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ADDRESS (Annotated Database of Disease-RElated Sequences and Structures) maps disease-associated/benign mutations from HUMSAVAR to residues on PDB structures. It also performs and integrates structural analysis of mutations, including contact numbers and prediction of free-energy changes upon mutations (ΔΔG) by EvoEF and FoldX. The ADDRESS database can be used for hypothesis assessment and benchmarking of disease-associated prediction algorithms.

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# UniProt accession
(Gene in neXtProt)		 Wild type amino acid Mutant amino acid Residue index in UniProt dbSNP Disease association [OMIM ID]
15001 P08246 (ELANE) A V 61 rs137854447 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15002 P08246 (ELANE) S W 67 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15003 P08246 (ELANE) C F 71 rs878855315 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15004 P08246 (ELANE) C R 71 rs28931611 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15005 P08246 (ELANE) C S 71 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15006 P08246 (ELANE) C Y 71 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15007 P08246 (ELANE) V G 72 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15008 P08246 (ELANE) V G 80 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15009 P08246 (ELANE) R P 81 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15010 P08246 (ELANE) V M 82 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15011 P08246 (ELANE) L P 84 rs1064793108 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15012 P08246 (ELANE) G E 85 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15013 P08246 (ELANE) G R 85 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15014 P08246 (ELANE) Q L 97 - Disease: Cyclic haematopoies is (CH) [MIM:162800]
15015 P08246 (ELANE) V L 98 rs267606781 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15016 P08246 (ELANE) V M 98 rs267606781 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15017 P08246 (ELANE) V L 101 rs137854449 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15018 P08246 (ELANE) V M 101 rs137854449 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15019 P08246 (ELANE) R L 103 rs745455816 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15020 P08246 (ELANE) R P 103 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15021 P08246 (ELANE) I N 104 - Disease: Cyclic haematopoies is (CH) [MIM:162800]
15022 P08246 (ELANE) I V 118 rs1382122842 Benign
15023 P08246 (ELANE) I F 120 rs1131691520 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15024 P08246 (ELANE) I N 120 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15025 P08246 (ELANE) I S 120 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15026 P08246 (ELANE) L P 121 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15027 P08246 (ELANE) L H 123 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15028 P08246 (ELANE) N I 124 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15029 P08246 (ELANE) G R 125 rs377698556 Benign
15030 P08246 (ELANE) S L 126 rs137854450 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15031 P08246 (ELANE) A D 127 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15032 P08246 (ELANE) A P 127 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15033 P08246 (ELANE) V M 135 rs774457980 Benign
15034 P08246 (ELANE) A D 136 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15035 P08246 (ELANE) P L 139 rs137854448 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15036 P08246 (ELANE) P R 139 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15037 P08246 (ELANE) C F 151 rs57246956 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15038 P08246 (ELANE) C S 151 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15039 P08246 (ELANE) C W 151 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15040 P08246 (ELANE) L P 152 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15041 P08246 (ELANE) A D 153 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15042 P08246 (ELANE) A P 153 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15043 P08246 (ELANE) W C 156 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15044 P08246 (ELANE) W R 156 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15045 P08246 (ELANE) A T 166 rs201788817 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15046 P08246 (ELANE) G C 203 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15047 P08246 (ELANE) G R 203 rs201139487 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15048 P08246 (ELANE) P R 205 rs1555710077 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15049 P08246 (ELANE) L F 206 rs137854446 Disease: Cyclic haematopoies is (CH) [MIM:162800]
15050 P08246 (ELANE) L S 206 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15051 P08246 (ELANE) C G 208 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15052 P08246 (ELANE) N I 209 - Disease: Cyclic haematopoies is (CH) [MIM:162800]
15053 P08246 (ELANE) G V 210 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15054 P08246 (ELANE) G W 210 - Disease: Cyclic haematopoies is (CH) [MIM:162800]
15055 P08246 (ELANE) G E 214 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15056 P08246 (ELANE) G R 214 rs137854451 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15057 P08246 (ELANE) R Q 220 rs137854445 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15058 P08246 (ELANE) A P 233 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15059 P08246 (ELANE) V E 235 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15060 P08246 (ELANE) V G 235 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15061 P08246 (ELANE) P L 257 rs17216663 Benign
15062 P08246 (ELANE) P L 262 rs17216670 Benign
15063 P08247 (SYP) L Q 2 rs200470034 Benign
15064 P08247 (SYP) E Q 72 - Benign
15065 P08247 (SYP) S L 158 - Benign
15066 P08247 (SYP) D N 166 - Benign
15067 P08247 (SYP) G R 217 rs137852561 Disease: Mental retardation, X-linked 96 (MRX96) [MIM:300802]
15068 P08247 (SYP) D N 248 rs782086106 Benign
15069 P08253 (MMP2) R H 101 rs121912953 Disease: Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600]
15070 P08253 (MMP2) D Y 210 - Benign
15071 P08253 (MMP2) E K 404 rs121912955 Disease: Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600]
15072 P08253 (MMP2) A V 447 rs17859943 Benign
15073 P08253 (MMP2) V L 621 rs16955280 Benign
15074 P08254 (MMP3) K E 45 rs679620 Benign
15075 P08263 (GSTA1) T I 19 rs1051578 Benign
15076 P08263 (GSTA1) P Q 113 rs1051745 Benign
15077 P08263 (GSTA1) K Q 117 rs1051757 Benign
15078 P08294 (SOD3) A T 58 rs2536512 Benign
15079 P08294 (SOD3) A T 91 rs17879876 Benign
15080 P08294 (SOD3) R G 231 rs1799895 Benign
15081 P08311 (CTSG) N S 125 rs45567233 Benign
15082 P08319 (ADH4) I V 309 rs1126671 Benign
15083 P08319 (ADH4) R H 318 rs29001219 Benign
15084 P08319 (ADH4) V I 374 rs1126673 Benign
15085 P08397 (HMBS) M I 18 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15086 P08397 (HMBS) R C 22 rs189159450 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15087 P08397 (HMBS) G S 24 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15088 P08397 (HMBS) R C 26 rs998842815 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15089 P08397 (HMBS) R H 26 rs118204103 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15090 P08397 (HMBS) S N 28 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15091 P08397 (HMBS) A P 31 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15092 P08397 (HMBS) A T 31 rs118204104 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15093 P08397 (HMBS) R P 32 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15094 P08397 (HMBS) Q K 34 rs118204105 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15095 P08397 (HMBS) Q P 34 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15096 P08397 (HMBS) Q R 34 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15097 P08397 (HMBS) T M 35 rs974712040 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15098 P08397 (HMBS) L S 42 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15099 P08397 (HMBS) A S 55 rs118204106 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15100 P08397 (HMBS) D N 61 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15101 P08397 (HMBS) D Y 61 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15102 P08397 (HMBS) T P 78 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15103 P08397 (HMBS) E G 80 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15104 P08397 (HMBS) L P 81 rs118204119 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15105 P08397 (HMBS) L R 85 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15106 P08397 (HMBS) E V 86 rs150763621 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15107 P08397 (HMBS) V G 90 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15108 P08397 (HMBS) L P 92 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15109 P08397 (HMBS) V F 93 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15110 P08397 (HMBS) S F 96 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15111 P08397 (HMBS) K R 98 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15112 P08397 (HMBS) D G 99 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15113 P08397 (HMBS) D H 99 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15114 P08397 (HMBS) D N 99 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15115 P08397 (HMBS) G R 111 rs118204107 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15116 P08397 (HMBS) I T 113 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15117 P08397 (HMBS) R Q 116 rs1165046276 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15118 P08397 (HMBS) R W 116 rs118204094 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15119 P08397 (HMBS) P L 119 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15120 P08397 (HMBS) A G 122 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15121 P08397 (HMBS) V D 124 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15122 P08397 (HMBS) R L 149 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15123 P08397 (HMBS) R Q 149 rs118204098 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15124 P08397 (HMBS) R Q 167 rs118204095 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15125 P08397 (HMBS) R W 167 rs118204101 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15126 P08397 (HMBS) R Q 173 rs118204096 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15127 P08397 (HMBS) R W 173 rs575222284 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15128 P08397 (HMBS) L R 177 rs118204108 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15129 P08397 (HMBS) R C 195 rs34413634 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15130 P08397 (HMBS) R W 201 rs118204109 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15131 P08397 (HMBS) V L 202 rs914335144 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15132 P08397 (HMBS) Q K 204 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15133 P08397 (HMBS) E K 209 rs1007859875 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15134 P08397 (HMBS) M V 212 rs772471000 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15135 P08397 (HMBS) V M 215 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15136 P08397 (HMBS) G D 216 rs118204116 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15137 P08397 (HMBS) Q H 217 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15138 P08397 (HMBS) Q L 217 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15139 P08397 (HMBS) A D 219 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15140 P08397 (HMBS) V M 222 rs1261947877 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15141 P08397 (HMBS) E K 223 rs118204110 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15142 P08397 (HMBS) R G 225 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15143 P08397 (HMBS) R Q 225 rs142459647 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15144 P08397 (HMBS) G S 236 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15145 P08397 (HMBS) L R 238 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15146 P08397 (HMBS) L P 244 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15147 P08397 (HMBS) L R 245 rs118204099 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15148 P08397 (HMBS) C F 247 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15149 P08397 (HMBS) C R 247 rs118204111 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15150 P08397 (HMBS) E A 250 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15151 P08397 (HMBS) E D 250 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15152 P08397 (HMBS) E K 250 rs118204112 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15153 P08397 (HMBS) E Q 250 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15154 P08397 (HMBS) E V 250 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15155 P08397 (HMBS) A T 252 rs118204113 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15156 P08397 (HMBS) A V 252 rs118204114 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15157 P08397 (HMBS) L P 254 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15158 P08397 (HMBS) H N 256 rs118204115 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15159 P08397 (HMBS) H Y 256 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15160 P08397 (HMBS) G D 260 rs990831395 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15161 P08397 (HMBS) C Y 261 rs1334178100 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15162 P08397 (HMBS) V M 267 rs1057521126 Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15163 P08397 (HMBS) T I 269 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15164 P08397 (HMBS) A D 270 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15165 P08397 (HMBS) A G 270 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15166 P08397 (HMBS) G R 274 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15167 P08397 (HMBS) L P 278 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15168 P08397 (HMBS) G R 280 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15169 P08397 (HMBS) A P 330 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15170 P08397 (HMBS) G D 335 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15171 P08397 (HMBS) G S 335 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15172 P08397 (HMBS) L P 338 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15173 P08397 (HMBS) L P 343 - Disease: Acute intermittent porphyria (AIP) [MIM:176000]
15174 P08473 (MME) C Y 143 rs879255651 Disease: Spinocerebel lar ataxia 43 (SCA43) [MIM:617018]
15175 P08473 (MME) Y C 347 rs138218277 Disease: Charcot- Marie-Tooth disease 2T (CMT2T) [MIM:617017]
15176 P08473 (MME) A D 422 rs777476150 Disease: Charcot- Marie-Tooth disease 2T (CMT2T) [MIM:617017]
15177 P08473 (MME) Y H 497 rs200308207 Benign
15178 P08473 (MME) C R 621 rs879253752 Disease: Charcot- Marie-Tooth disease 2T (CMT2T) [MIM:617017]
15179 P08476 (INHBA) Q P 299 rs41294833 Benign
15180 P08493 (MGP) K E 53 rs1801716 Benign
15181 P08493 (MGP) T A 102 rs4236 Benign
15182 P08514 (ITGA2B) T I 40 rs5915 Benign
15183 P08514 (ITGA2B) L P 86 rs1052533574 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15184 P08514 (ITGA2B) A V 139 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15185 P08514 (ITGA2B) C W 161 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15186 P08514 (ITGA2B) Y H 174 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15187 P08514 (ITGA2B) P A 176 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15188 P08514 (ITGA2B) P L 176 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15189 P08514 (ITGA2B) F C 202 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15190 P08514 (ITGA2B) T I 207 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15191 P08514 (ITGA2B) L P 214 rs137852911 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15192 P08514 (ITGA2B) F L 222 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15193 P08514 (ITGA2B) G E 267 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15194 P08514 (ITGA2B) G D 273 rs137852907 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15195 P08514 (ITGA2B) G A 313 rs1126554 Benign
15196 P08514 (ITGA2B) F S 320 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15197 P08514 (ITGA2B) V F 329 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15198 P08514 (ITGA2B) E K 355 rs137852910 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15199 P08514 (ITGA2B) R H 358 rs137852908 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15200 P08514 (ITGA2B) G D 380 rs766006685 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15201 P08514 (ITGA2B) I T 405 rs75622274 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15202 P08514 (ITGA2B) G R 412 rs780786843 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15203 P08514 (ITGA2B) G D 449 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15204 P08514 (ITGA2B) A D 581 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15205 P08514 (ITGA2B) I T 596 rs76811038 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15206 P08514 (ITGA2B) V L 649 rs7207402 Benign
15207 P08514 (ITGA2B) C R 705 rs77961246 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15208 P08514 (ITGA2B) L V 752 rs761174160 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15209 P08514 (ITGA2B) R P 755 rs763762304 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15210 P08514 (ITGA2B) Q P 778 rs74475415 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15211 P08514 (ITGA2B) L P 847 rs1344532070 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15212 P08514 (ITGA2B) I S 874 rs5911 Benign
15213 P08514 (ITGA2B) V F 934 rs77458039 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15214 P08514 (ITGA2B) P L 943 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15215 P08514 (ITGA2B) S L 957 rs80002943 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15216 P08514 (ITGA2B) Y N 968 rs5914 Benign
15217 P08514 (ITGA2B) V M 982 rs78657866 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15218 P08514 (ITGA2B) A T 989 rs78165611 Benign
15219 P08514 (ITGA2B) R Q 1026 rs879255514 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
15220 P08514 (ITGA2B) R W 1026 rs766503255 Disease: Bleeding disorder, platelet- type 16 (BDPLT16) [MIM:187800]
15221 P08519 (LPA) R Q 3498 rs41259144 Benign
15222 P08519 (LPA) L V 3866 rs7765803 Benign
15223 P08519 (LPA) L V 3880 rs7765781 Benign
15224 P08519 (LPA) T P 3907 rs41272110 Benign
15225 P08519 (LPA) R Q 3929 rs41272112 Benign
15226 P08519 (LPA) M T 4106 rs41264308 Benign
15227 P08519 (LPA) M T 4187 rs1801693 Benign
15228 P08519 (LPA) G A 4330 rs41265936 Benign
15229 P08519 (LPA) I M 4399 rs3798220 Benign
15230 P08519 (LPA) R C 4524 rs3124784 Benign
15231 P08559 (PDHA1) R P 10 rs137853257 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15232 P08559 (PDHA1) R C 72 rs863224148 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15233 P08559 (PDHA1) H D 113 - Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15234 P08559 (PDHA1) A T 136 rs138727886 Disease: -
15235 P08559 (PDHA1) G R 162 rs866868610 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15236 P08559 (PDHA1) V M 167 - Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15237 P08559 (PDHA1) A T 199 - Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15238 P08559 (PDHA1) F L 205 rs137853254 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15239 P08559 (PDHA1) M V 210 rs794727843 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15240 P08559 (PDHA1) P L 217 rs1131691792 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15241 P08559 (PDHA1) T A 231 - Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15242 P08559 (PDHA1) Y N 243 rs137853255 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15243 P08559 (PDHA1) D A 258 rs137853253 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15244 P08559 (PDHA1) R G 263 rs137853259 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15245 P08559 (PDHA1) R Q 263 - Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15246 P08559 (PDHA1) M L 282 rs2229137 Benign
15247 P08559 (PDHA1) R H 288 rs137853258 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15248 P08559 (PDHA1) H L 292 - Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15249 P08559 (PDHA1) R C 302 rs137853252 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15250 P08559 (PDHA1) R H 302 rs1064794149 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15251 P08559 (PDHA1) D N 315 rs137853256 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15252 P08559 (PDHA1) E D 333 rs2228067 Benign
15253 P08559 (PDHA1) R H 378 rs137853250 Disease: Pyruvate dehydrogenas e E1-alpha deficiency (PDHAD) [MIM:312170]
15254 P08567 (PLEK) R W 5 rs17035364 Benign
15255 P08567 (PLEK) W R 92 - Benign
15256 P08567 (PLEK) K N 97 rs3816281 Benign
15257 P08567 (PLEK) K Q 108 rs34515106 Benign
15258 P08567 (PLEK) R K 340 rs1063479 Benign
15259 P08571 (CD14) N D 204 rs2228049 Benign
15260 P08571 (CD14) E K 341 rs11556179 Benign
15261 P08572 (COL4A2) V F 192 rs62621885 Benign
15262 P08572 (COL4A2) R K 517 rs7990383 Benign
15263 P08572 (COL4A2) G A 683 rs3803230 Benign
15264 P08572 (COL4A2) K R 701 rs78829338 Benign
15265 P08572 (COL4A2) P S 718 rs9583500 Benign
15266 P08572 (COL4A2) G E 1037 rs387906603 Disease: Brain small vessel disease 2 (BSVD2) [MIM:614483]
15267 P08572 (COL4A2) R Q 1109 rs184812559 Benign
15268 P08572 (COL4A2) E G 1123 rs117412802 Benign
15269 P08572 (COL4A2) Q K 1150 rs62621875 Benign
15270 P08572 (COL4A2) G D 1152 rs387906602 Disease: Brain small vessel disease 2 (BSVD2) [MIM:614483]
15271 P08572 (COL4A2) G R 1389 - Disease: -
15272 P08572 (COL4A2) V I 1399 rs45520539 Benign
15273 P08572 (COL4A2) A T 1690 rs201105747 Benign
15274 P08574 (CYC1) M V 76 rs7820984 Benign
15275 P08574 (CYC1) L V 89 - Benign
15276 P08574 (CYC1) W C 96 rs587777041 Disease: Mitochondria l complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453]
15277 P08574 (CYC1) L F 215 rs587777042 Disease: Mitochondria l complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453]
15278 P08575 (PTPRC) T A 193 rs4915154 Benign
15279 P08575 (PTPRC) I L 296 rs2230606 Benign
15280 P08575 (PTPRC) T I 423 rs6696162 Benign
15281 P08575 (PTPRC) H Q 570 rs12136658 Benign
15282 P08575 (PTPRC) S R 1285 rs2298872 Benign
15283 P08581 (MET) R Q 143 rs35469582 Benign
15284 P08581 (MET) H Y 150 rs1436957498 Benign
15285 P08581 (MET) S L 156 rs56311081 Benign
15286 P08581 (MET) E D 168 rs55985569 Benign
15287 P08581 (MET) L S 238 rs34349517 Benign
15288 P08581 (MET) I M 316 rs35225896 Benign
15289 P08581 (MET) A V 320 rs35776110 Benign
15290 P08581 (MET) N S 375 rs33917957 Benign
15291 P08581 (MET) C Y 385 rs752055485 Benign
15292 P08581 (MET) F V 841 rs794728016 Disease: Deafness, autosomal recessive, 97 (DFNB97) [MIM:616705]
15293 P08581 (MET) R C 970 rs34589476 Benign
15294 P08581 (MET) T I 992 rs56391007 Benign
15295 P08581 (MET) Y S 1003 - Disease: -
15296 P08581 (MET) V I 1092 rs786202724 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15297 P08581 (MET) H L 1094 - Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15298 P08581 (MET) H R 1094 rs121913243 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15299 P08581 (MET) H Y 1094 rs121913244 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15300 P08581 (MET) H D 1106 - Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15301 P08581 (MET) M T 1131 rs121913668 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15302 P08581 (MET) T I 1173 rs121913675 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
15303 P08581 (MET) V L 1188 rs121913669 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15304 P08581 (MET) L V 1195 rs121913673 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15305 P08581 (MET) V I 1220 rs121913670 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15306 P08581 (MET) D H 1228 rs121913671 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15307 P08581 (MET) D N 1228 rs121913671 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15308 P08581 (MET) Y C 1230 rs121913246 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15309 P08581 (MET) Y D 1230 - Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15310 P08581 (MET) Y H 1230 rs121913247 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15311 P08581 (MET) K R 1244 rs121913677 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
15312 P08581 (MET) M I 1250 rs121913676 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
15313 P08581 (MET) M T 1250 rs121913245 Disease: Renal cell carcinoma papillary (RCCP) [MIM:605074]
15314 P08581 (MET) V I 1294 rs1263785859 Benign
15315 P08582 (MELTF) R W 294 rs2276790 Benign
15316 P08582 (MELTF) A T 559 rs17129219 Benign
15317 P08588 (ADRB1) A V 26 rs34844626 Benign
15318 P08588 (ADRB1) A T 29 rs35720093 Benign
15319 P08588 (ADRB1) R Q 31 rs35230616 Benign
15320 P08588 (ADRB1) S G 49 rs1801252 Benign
15321 P08588 (ADRB1) R G 389 rs1801253 Benign
15322 P08588 (ADRB1) R L 389 rs17875445 Benign
15323 P08588 (ADRB1) R H 399 rs36052953 Benign
15324 P08588 (ADRB1) H Y 405 rs35705839 Benign
15325 P08590 (MYL3) E G 56 rs199474702 Disease: Cardiomyopat hy, familial hypertrophic 8 (CMH8) [MIM:608751]
15326 P08590 (MYL3) E K 143 rs104893750 Disease: Cardiomyopat hy, familial hypertrophic 8 (CMH8) [MIM:608751]
15327 P08590 (MYL3) M V 149 rs104893748 Disease: Cardiomyopat hy, familial hypertrophic 8 (CMH8) [MIM:608751]
15328 P08590 (MYL3) R H 154 rs104893749 Disease: Cardiomyopat hy, familial hypertrophic 8 (CMH8) [MIM:608751]
15329 P08590 (MYL3) E G 177 rs193922391 Disease: Cardiomyopat hy, familial hypertrophic 8 (CMH8) [MIM:608751]
15330 P08603 (CFH) V I 62 rs800292 Benign
15331 P08603 (CFH) R G 78 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15332 P08603 (CFH) R L 127 rs121913058 Disease: Complement factor H deficiency (CFHD) [MIM:609814]
15333 P08603 (CFH) C Y 325 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15334 P08603 (CFH) Q K 400 rs201671665 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15335 P08603 (CFH) Y H 402 rs1061170 Benign
15336 P08603 (CFH) C S 431 rs121913056 Disease: Complement factor H deficiency (CFHD) [MIM:609814]
15337 P08603 (CFH) T R 493 rs1061171 Benign
15338 P08603 (CFH) C R 536 rs121913052 Disease: Complement factor H deficiency (CFHD) [MIM:609814]
15339 P08603 (CFH) I T 551 rs35453854 Benign
15340 P08603 (CFH) R G 567 rs757756991 Benign
15341 P08603 (CFH) V I 609 rs148165372 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15342 P08603 (CFH) C W 630 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15343 P08603 (CFH) C S 673 - Disease: Complement factor H deficiency (CFHD) [MIM:609814]
15344 P08603 (CFH) C Y 673 rs1391815797 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15345 P08603 (CFH) E K 850 rs762443267 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15346 P08603 (CFH) S I 890 rs515299 Benign
15347 P08603 (CFH) H R 893 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15348 P08603 (CFH) C S 915 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15349 P08603 (CFH) E D 936 rs1065489 Benign
15350 P08603 (CFH) Q H 950 rs149474608 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15351 P08603 (CFH) Y H 951 rs777049051 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15352 P08603 (CFH) T M 956 rs145975787 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15353 P08603 (CFH) C Y 959 rs121913053 Disease: Complement factor H deficiency (CFHD) [MIM:609814]
15354 P08603 (CFH) W C 978 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15355 P08603 (CFH) N T 997 rs17575212 Benign
15356 P08603 (CFH) V I 1007 - Benign
15357 P08603 (CFH) V L 1007 rs534399 Benign
15358 P08603 (CFH) A T 1010 rs11539862 Benign
15359 P08603 (CFH) T I 1017 rs34362004 Benign
15360 P08603 (CFH) Y F 1021 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15361 P08603 (CFH) C R 1043 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15362 P08603 (CFH) N Y 1050 rs35274867 Benign
15363 P08603 (CFH) I T 1059 rs35343172 Benign
15364 P08603 (CFH) Q E 1076 rs62625015 Disease: Complement factor H deficiency (CFHD) [MIM:609814]
15365 P08603 (CFH) R S 1078 rs121913062 Benign
15366 P08603 (CFH) D G 1119 rs575109631 Disease: Complement factor H deficiency (CFHD) [MIM:609814]
15367 P08603 (CFH) V G 1134 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15368 P08603 (CFH) Y D 1142 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15369 P08603 (CFH) Q E 1143 rs15809 Benign
15370 P08603 (CFH) W R 1157 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15371 P08603 (CFH) C W 1163 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15372 P08603 (CFH) I L 1169 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15373 P08603 (CFH) W C 1183 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15374 P08603 (CFH) W L 1183 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15375 P08603 (CFH) W R 1183 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15376 P08603 (CFH) T R 1184 - Disease: Complement factor H deficiency (CFHD) [MIM:609814]
15377 P08603 (CFH) L R 1189 rs121913055 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15378 P08603 (CFH) S L 1191 rs460897 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15379 P08603 (CFH) G D 1194 rs761877050 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15380 P08603 (CFH) V A 1197 rs460184 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15381 P08603 (CFH) E A 1198 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15382 P08603 (CFH) F S 1199 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15383 P08603 (CFH) R C 1210 rs121913059 Disease: Macular degeneration , age-related, 4 (ARMD4) [MIM:610698]
15384 P08603 (CFH) R G 1215 rs121913051 Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15385 P08603 (CFH) R Q 1215 - Disease: Complement factor H deficiency (CFHD) [MIM:609814]
15386 P08603 (CFH) P S 1226 - Disease: Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
15387 P08631 (HCK) A T 44 rs56029200 Benign
15388 P08631 (HCK) M L 105 rs55722810 Benign
15389 P08631 (HCK) P Q 502 rs17093828 Benign
15390 P08637 (FCGR3A) L R 66 rs10127939 Benign
15391 P08637 (FCGR3A) L H 66 rs10127939 Disease: Immunodefici ency 20 (IMD20) [MIM:615707]
15392 P08637 (FCGR3A) G D 147 rs443082 Benign
15393 P08637 (FCGR3A) Y H 158 rs396716 Benign
15394 P08637 (FCGR3A) F V 176 rs396991 Benign
15395 P08637 (FCGR3A) F S 203 rs1042206 Benign
15396 P08648 (ITGA5) R I 585 rs12318746 Benign
15397 P08651 (NFIC) A S 417 rs10412720 Benign
15398 P08670 (VIM) E K 151 rs121917775 Disease: Cataract 30, multiple types (CTRCT30) [MIM:116300]
15399 P08684 (CYP3A4) L P 15 rs12721634 Benign
15400 P08684 (CYP3A4) G D 56 rs56324128 Benign
15401 P08684 (CYP3A4) K E 96 rs3091339 Benign
15402 P08684 (CYP3A4) I V 118 rs55951658 Benign
15403 P08684 (CYP3A4) R Q 130 rs72552799 Benign
15404 P08684 (CYP3A4) R Q 162 rs4986907 Benign
15405 P08684 (CYP3A4) V I 170 rs72552798 Benign
15406 P08684 (CYP3A4) D H 174 rs4986908 Benign
15407 P08684 (CYP3A4) T S 185 rs12721627 Benign
15408 P08684 (CYP3A4) F S 189 rs4987161 Benign
15409 P08684 (CYP3A4) P R 218 rs55901263 Benign
15410 P08684 (CYP3A4) S P 222 rs55785340 Benign
15411 P08684 (CYP3A4) S A 252 rs3208363 Benign
15412 P08684 (CYP3A4) L P 293 rs28371759 Benign
15413 P08684 (CYP3A4) T N 349 rs10250778 Benign
15414 P08684 (CYP3A4) T M 363 rs67784355 Benign
15415 P08684 (CYP3A4) L F 373 rs12721629 Benign
15416 P08684 (CYP3A4) P L 416 rs4986909 Benign
15417 P08684 (CYP3A4) I T 431 rs1041988 Benign
15418 P08684 (CYP3A4) M T 445 rs4986910 Benign
15419 P08684 (CYP3A4) P S 467 rs4986913 Benign
15420 P08686 (CYP21A2) R C 16 rs757608533 Benign
15421 P08686 (CYP21A2) P L 30 rs9378251 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15422 P08686 (CYP21A2) P Q 30 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15423 P08686 (CYP21A2) G R 56 rs1413433421 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15424 P08686 (CYP21A2) H L 62 rs9378252 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15425 P08686 (CYP21A2) G E 64 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15426 P08686 (CYP21A2) I T 77 rs1333278223 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15427 P08686 (CYP21A2) G V 90 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15428 P08686 (CYP21A2) K R 98 rs1268071078 Benign
15429 P08686 (CYP21A2) K R 102 rs6474 Benign
15430 P08686 (CYP21A2) P L 105 rs550051210 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15431 P08686 (CYP21A2) L R 107 rs957886272 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15432 P08686 (CYP21A2) S F 113 rs1296268275 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15433 P08686 (CYP21A2) K Q 121 rs547552654 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15434 P08686 (CYP21A2) R H 124 rs72552750 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15435 P08686 (CYP21A2) L P 142 rs755020999 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15436 P08686 (CYP21A2) L P 167 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15437 P08686 (CYP21A2) C R 169 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15438 P08686 (CYP21A2) C Y 169 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15439 P08686 (CYP21A2) I N 172 rs6475 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15440 P08686 (CYP21A2) G A 178 rs72552751 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15441 P08686 (CYP21A2) G R 178 rs772317717 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15442 P08686 (CYP21A2) D E 183 rs397515531 Benign
15443 P08686 (CYP21A2) Y H 191 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15444 P08686 (CYP21A2) L F 198 rs143240527 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15445 P08686 (CYP21A2) S G 202 rs372964292 Benign
15446 P08686 (CYP21A2) V L 211 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15447 P08686 (CYP21A2) I T 230 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15448 P08686 (CYP21A2) R K 233 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15449 P08686 (CYP21A2) I N 236 rs111647200 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15450 P08686 (CYP21A2) V E 237 rs12530380 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15451 P08686 (CYP21A2) M K 239 rs6476 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15452 P08686 (CYP21A2) L P 261 rs750337015 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15453 P08686 (CYP21A2) P L 267 rs61732108 Benign
15454 P08686 (CYP21A2) S T 268 rs6472 Benign
15455 P08686 (CYP21A2) V G 281 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15456 P08686 (CYP21A2) V L 281 rs6471 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15457 P08686 (CYP21A2) H N 282 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15458 P08686 (CYP21A2) M L 283 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15459 P08686 (CYP21A2) G C 291 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15460 P08686 (CYP21A2) G R 291 rs201552310 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15461 P08686 (CYP21A2) G S 291 rs201552310 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15462 P08686 (CYP21A2) G D 292 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15463 P08686 (CYP21A2) L F 300 rs765001985 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15464 P08686 (CYP21A2) S Y 301 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15465 P08686 (CYP21A2) W R 302 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15466 P08686 (CYP21A2) V M 304 rs151344505 Benign
15467 P08686 (CYP21A2) L M 317 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15468 P08686 (CYP21A2) E K 320 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15469 P08686 (CYP21A2) R H 339 rs72552754 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15470 P08686 (CYP21A2) R P 341 rs747079101 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15471 P08686 (CYP21A2) R W 341 rs72552755 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15472 P08686 (CYP21A2) R C 354 rs772900496 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15473 P08686 (CYP21A2) R H 354 rs760216630 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15474 P08686 (CYP21A2) R P 356 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15475 P08686 (CYP21A2) R Q 356 rs574370139 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15476 P08686 (CYP21A2) R W 356 rs7769409 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15477 P08686 (CYP21A2) A V 362 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15478 P08686 (CYP21A2) L W 363 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15479 P08686 (CYP21A2) H Y 365 rs1330554738 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15480 P08686 (CYP21A2) R W 369 rs781074931 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15481 P08686 (CYP21A2) G S 375 rs151344506 Benign
15482 P08686 (CYP21A2) E D 380 rs72552756 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15483 P08686 (CYP21A2) R C 408 rs72552757 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15484 P08686 (CYP21A2) G S 424 rs72552758 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15485 P08686 (CYP21A2) R C 426 rs1370167869 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15486 P08686 (CYP21A2) R H 426 rs151344504 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15487 P08686 (CYP21A2) R C 435 rs767333157 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15488 P08686 (CYP21A2) T M 450 rs1319651744 Benign
15489 P08686 (CYP21A2) T P 450 - Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15490 P08686 (CYP21A2) P S 453 rs6445 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15491 P08686 (CYP21A2) R L 479 rs184649564 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15492 P08686 (CYP21A2) P S 482 rs776989258 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15493 P08686 (CYP21A2) R P 483 rs200005406 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15494 P08686 (CYP21A2) R Q 483 rs200005406 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15495 P08686 (CYP21A2) R W 483 rs759736443 Disease: Adrenal hyperplasia 3 (AH3) [MIM:201910]
15496 P08686 (CYP21A2) N S 493 rs6473 Benign
15497 P08697 (SERPINF2) A V 2 rs2070862 Benign
15498 P08697 (SERPINF2) A V 27 - Benign
15499 P08697 (SERPINF2) R W 33 rs2070863 Benign
15500 P08697 (SERPINF2) A G 98 rs36021516 Benign
15501 P08697 (SERPINF2) V M 411 rs121965062 Disease: Alpha-2-plas min inhibitor deficiency (APLID) [MIM:262850]
15502 P08697 (SERPINF2) R K 434 rs1057335 Benign
15503 P08697 (SERPINF2) P S 451 rs57360598 Benign
15504 P08700 (IL3) R C 3 rs35415145 Benign
15505 P08700 (IL3) R H 15 rs2069787 Benign
15506 P08700 (IL3) P S 27 rs40401 Benign
15507 P08700 (IL3) N S 60 rs35482671 Benign
15508 P08708 (RPS17) E K 36 rs1043734 Benign
15509 P08709 (F7) L P 13 rs387906507 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15510 P08709 (F7) F L 64 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15511 P08709 (F7) L Q 73 rs45572939 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15512 P08709 (F7) E Q 79 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15513 P08709 (F7) C F 82 rs1448296564 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15514 P08709 (F7) C R 82 rs745374448 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15515 P08709 (F7) E K 85 rs121964935 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15516 P08709 (F7) R G 88 rs776354144 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15517 P08709 (F7) R P 88 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15518 P08709 (F7) N D 117 rs121964932 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15519 P08709 (F7) S P 120 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15520 P08709 (F7) C F 121 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15521 P08709 (F7) L P 125 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15522 P08709 (F7) Y C 128 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15523 P08709 (F7) G D 138 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15524 P08709 (F7) R K 139 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15525 P08709 (F7) R Q 139 rs150525536 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15526 P08709 (F7) R W 139 rs776796178 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15527 P08709 (F7) C S 151 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15528 P08709 (F7) E K 154 rs146795869 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15529 P08709 (F7) G S 156 rs563972504 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15530 P08709 (F7) G C 157 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15531 P08709 (F7) G S 157 rs763458490 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15532 P08709 (F7) G V 157 rs771335282 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15533 P08709 (F7) Q R 160 rs200016360 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15534 P08709 (F7) S F 171 rs143855920 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15535 P08709 (F7) G R 177 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15536 P08709 (F7) L P 181 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15537 P08709 (F7) D N 183 rs1258691292 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15538 P08709 (F7) S F 186 rs764971156 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15539 P08709 (F7) P S 189 rs1479693459 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15540 P08709 (F7) P L 194 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15541 P08709 (F7) P T 194 rs1234759020 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15542 P08709 (F7) C R 195 rs372577568 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15543 P08709 (F7) K E 197 rs1250204261 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15544 P08709 (F7) I T 198 rs762621913 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15545 P08709 (F7) R Q 212 rs868044209 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15546 P08709 (F7) G D 216 rs1438503836 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15547 P08709 (F7) C Y 238 rs121964928 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15548 P08709 (F7) G R 240 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15549 P08709 (F7) T N 241 rs1160146175 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15550 P08709 (F7) S F 250 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15551 P08709 (F7) A P 251 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15552 P08709 (F7) A T 251 rs1269916662 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15553 P08709 (F7) C R 254 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15554 P08709 (F7) C Y 254 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15555 P08709 (F7) L P 264 rs753266903 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15556 P08709 (F7) A T 266 rs764807079 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15557 P08709 (F7) D N 272 rs751028917 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15558 P08709 (F7) D N 277 rs550074221 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15559 P08709 (F7) R W 283 rs779589651 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15560 P08709 (F7) V D 295 rs6045 Benign
15561 P08709 (F7) T I 298 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15562 P08709 (F7) H Q 301 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15563 P08709 (F7) D H 302 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15564 P08709 (F7) D N 302 rs770328850 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15565 P08709 (F7) A T 304 rs773627551 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15566 P08709 (F7) A V 304 rs121964931 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15567 P08709 (F7) R C 307 rs147680958 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15568 P08709 (F7) R H 307 rs121964929 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15569 P08709 (F7) V M 312 rs201991361 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15570 P08709 (F7) L V 314 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15571 P08709 (F7) L F 321 rs778138366 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15572 P08709 (F7) L R 323 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15573 P08709 (F7) E K 325 rs749760143 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15574 P08709 (F7) R Q 326 rs146698837 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15575 P08709 (F7) T M 332 rs200212201 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15576 P08709 (F7) R C 337 rs139372641 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15577 P08709 (F7) V F 341 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15578 P08709 (F7) G S 343 rs1250853566 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15579 P08709 (F7) W G 344 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15580 P08709 (F7) W R 344 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15581 P08709 (F7) G S 345 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15582 P08709 (F7) R C 350 rs747876824 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15583 P08709 (F7) A T 352 rs3093267 Benign
15584 P08709 (F7) A V 354 rs36209567 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15585 P08709 (F7) M I 358 rs149283257 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15586 P08709 (F7) M V 358 rs928183869 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15587 P08709 (F7) L P 360 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15588 P08709 (F7) P H 363 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15589 P08709 (F7) P R 363 rs963430078 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15590 P08709 (F7) R Q 364 rs121964926 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15591 P08709 (F7) R W 364 rs750980786 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15592 P08709 (F7) T S 367 rs747673406 Benign
15593 P08709 (F7) C F 370 rs121964927 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15594 P08709 (F7) R W 375 rs137919286 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15595 P08709 (F7) T M 384 rs531225271 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15596 P08709 (F7) M T 387 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15597 P08709 (F7) M V 387 rs1215224419 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15598 P08709 (F7) F S 388 rs121964938 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15599 P08709 (F7) C G 389 rs121964934 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15600 P08709 (F7) G C 391 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15601 P08709 (F7) G S 391 rs190485816 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15602 P08709 (F7) D E 398 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15603 P08709 (F7) K E 401 rs748979195 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15604 P08709 (F7) G E 402 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15605 P08709 (F7) G R 402 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15606 P08709 (F7) D H 403 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15607 P08709 (F7) S N 404 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15608 P08709 (F7) H Q 408 rs121964936 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15609 P08709 (F7) H R 408 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15610 P08709 (F7) R Q 413 rs6046 Benign
15611 P08709 (F7) R G 413 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15612 P08709 (F7) G C 414 rs121964937 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15613 P08709 (F7) T M 419 rs121964930 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15614 P08709 (F7) V F 422 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15615 P08709 (F7) G A 425 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15616 P08709 (F7) G C 425 - Disease: Factor VII deficiency (FA7D) [MIM:227500]
15617 P08709 (F7) A T 429 rs755377592 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15618 P08709 (F7) G D 432 rs1450120320 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15619 P08709 (F7) G E 435 rs756956471 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15620 P08709 (F7) Y F 437 rs758213652 Disease: Factor VII deficiency (FA7D) [MIM:227500]
15621 P08709 (F7) E K 445 rs3093248 Benign
15622 P08727 (KRT19) A G 60 rs4602 Benign
15623 P08729 (KRT7) H R 186 rs6580870 Benign
15624 P08729 (KRT7) G A 364 rs2608009 Benign
15625 P08754 (GNAI3) G R 40 rs387907178 Disease: Auriculocond ylar syndrome 1 (ARCND1) [MIM:602483]
15626 P08779 (KRT16) M T 121 rs28928894 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15627 P08779 (KRT16) Q P 122 rs59349773 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15628 P08779 (KRT16) L H 124 rs58293603 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15629 P08779 (KRT16) L P 124 rs58293603 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15630 P08779 (KRT16) L R 124 rs58293603 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15631 P08779 (KRT16) N D 125 rs58608173 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15632 P08779 (KRT16) N G 125 rs587777717 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15633 P08779 (KRT16) N S 125 rs60723330 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15634 P08779 (KRT16) R C 127 rs59856285 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15635 P08779 (KRT16) R P 127 rs57424749 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15636 P08779 (KRT16) L Q 128 rs28928895 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15637 P08779 (KRT16) L P 132 rs60944949 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15638 P08779 (KRT16) K N 354 rs59328451 Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15639 P08779 (KRT16) L P 421 - Disease: Pachyonychia congenita 1 (PC1) [MIM:167200]
15640 P08833 (IGFBP1) H D 114 rs41258845 Benign
15641 P08833 (IGFBP1) V I 183 rs1065782 Benign
15642 P08833 (IGFBP1) I M 253 rs4619 Benign
15643 P08842 (STS) S L 341 rs137853167 Disease: Ichthyosis, X-linked (IXL) [MIM:308100]
15644 P08842 (STS) W R 372 rs137853165 Disease: Ichthyosis, X-linked (IXL) [MIM:308100]
15645 P08842 (STS) W S 372 rs137853168 Disease: Ichthyosis, X-linked (IXL) [MIM:308100]
15646 P08842 (STS) G R 380 - Disease: Ichthyosis, X-linked (IXL) [MIM:308100]
15647 P08842 (STS) H R 444 rs137853169 Disease: Ichthyosis, X-linked (IXL) [MIM:308100]
15648 P08842 (STS) C Y 446 rs137853166 Disease: Ichthyosis, X-linked (IXL) [MIM:308100]
15649 P08842 (STS) V M 476 rs183370963 Benign
15650 P08842 (STS) Q P 560 - Disease: Ichthyosis, X-linked (IXL) [MIM:308100]
15651 P08861 (CELA3B) R W 79 rs7528405 Benign
15652 P08865 (RPSA) T N 54 rs397514762 Disease: Asplenia, isolated congenital (ICAS) [MIM:271400]
15653 P08865 (RPSA) L F 58 rs397514763 Disease: Asplenia, isolated congenital (ICAS) [MIM:271400]
15654 P08865 (RPSA) R W 117 rs17856150 Benign
15655 P08865 (RPSA) R G 180 rs397514760 Disease: Asplenia, isolated congenital (ICAS) [MIM:271400]
15656 P08865 (RPSA) R W 180 rs397514760 Disease: Asplenia, isolated congenital (ICAS) [MIM:271400]
15657 P08865 (RPSA) M V 185 rs1214087389 Benign
15658 P08865 (RPSA) R C 186 rs397514761 Disease: Asplenia, isolated congenital (ICAS) [MIM:271400]
15659 P08865 (RPSA) V G 257 rs369708612 Benign
15660 P08865 (RPSA) A T 278 rs143085301 Benign
15661 P08887 (IL6R) D A 358 rs2228145 Benign
15662 P08887 (IL6R) V I 385 rs2228146 Benign
15663 P08908 (HTR1A) P L 16 rs1800041 Benign
15664 P08908 (HTR1A) G S 22 rs1799920 Benign
15665 P08908 (HTR1A) I V 28 rs1799921 Benign
15666 P08908 (HTR1A) P L 184 rs1800043 Benign
15667 P08908 (HTR1A) R L 220 rs1800044 Benign
15668 P08908 (HTR1A) G D 273 rs1800042 Benign
15669 P08910 (ABHD2) R Q 253 rs17851730 Benign
15670 P08913 (ADRA2A) N K 266 rs1800035 Benign
15671 P08913 (ADRA2A) C S 416 rs35658213 Benign
15672 P08922 (ROS1) N S 13 rs45606237 Benign
15673 P08922 (ROS1) G V 126 rs34245787 Benign
15674 P08922 (ROS1) T P 145 rs1998206 Benign
15675 P08922 (ROS1) R Q 167 rs2243380 Benign
15676 P08922 (ROS1) P S 224 rs55959124 Benign
15677 P08922 (ROS1) Y C 338 rs55707658 Benign
15678 P08922 (ROS1) S P 370 rs56274823 Benign
15679 P08922 (ROS1) I M 537 rs28639589 Benign
15680 P08922 (ROS1) S F 653 rs34203286 Benign
15681 P08922 (ROS1) N S 790 rs34582164 Benign
15682 P08922 (ROS1) S L 1109 rs2229079 Benign
15683 P08922 (ROS1) Y F 1239 rs56192249 Benign
15684 P08922 (ROS1) Y S 1353 rs35269727 Benign
15685 P08922 (ROS1) C R 1370 rs36106063 Benign
15686 P08922 (ROS1) F S 1439 rs17079086 Benign
15687 P08922 (ROS1) R G 1506 rs35841892 Benign
15688 P08922 (ROS1) D H 1776 rs12664076 Benign
15689 P08922 (ROS1) E K 1902 rs9489124 Benign
15690 P08922 (ROS1) H N 1999 rs45569132 Benign
15691 P08922 (ROS1) R H 2039 rs3752566 Benign
15692 P08922 (ROS1) D N 2203 rs556427413 Benign
15693 P08922 (ROS1) D E 2213 rs75510639 Benign
15694 P08922 (ROS1) D N 2213 rs529038 Benign
15695 P08922 (ROS1) K Q 2228 rs529156 Benign
15696 P08922 (ROS1) S C 2229 rs619203 Benign
15697 P08922 (ROS1) N K 2240 rs210968 Benign
15698 P08922 (ROS1) K R 2328 rs35932630 Benign
15699 P08949 (NMB) P T 73 rs1051168 Benign
15700 P08F94 (PKHD1) A V 17 rs755654557 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15701 P08F94 (PKHD1) I V 25 - Benign
15702 P08F94 (PKHD1) T M 36 rs137852944 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15703 P08F94 (PKHD1) R W 92 rs370277502 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15704 P08F94 (PKHD1) I V 222 rs369925690 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15705 P08F94 (PKHD1) G S 223 rs749454235 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15706 P08F94 (PKHD1) I T 246 rs1037991711 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15707 P08F94 (PKHD1) F L 253 rs775254013 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15708 P08F94 (PKHD1) Y C 255 rs886042259 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15709 P08F94 (PKHD1) I V 292 rs367590965 Benign
15710 P08F94 (PKHD1) A V 293 rs398124499 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15711 P08F94 (PKHD1) I T 307 rs1288017883 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15712 P08F94 (PKHD1) G V 326 rs778329699 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15713 P08F94 (PKHD1) F L 372 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15714 P08F94 (PKHD1) E D 457 - Benign
15715 P08F94 (PKHD1) G E 466 rs750730042 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15716 P08F94 (PKHD1) G V 470 rs776845008 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15717 P08F94 (PKHD1) I S 473 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15718 P08F94 (PKHD1) Y H 486 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15719 P08F94 (PKHD1) R P 488 - Benign
15720 P08F94 (PKHD1) R P 496 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15721 P08F94 (PKHD1) I T 539 rs749730748 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15722 P08F94 (PKHD1) T M 579 rs45500692 Benign
15723 P08F94 (PKHD1) W C 656 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15724 P08F94 (PKHD1) H P 686 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15725 P08F94 (PKHD1) D N 703 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15726 P08F94 (PKHD1) R C 723 rs794727366 Benign
15727 P08F94 (PKHD1) P R 724 rs1229139298 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15728 P08F94 (PKHD1) V F 732 rs201432731 Benign
15729 P08F94 (PKHD1) P L 739 rs758352210 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15730 P08F94 (PKHD1) T M 752 rs200654041 Benign
15731 P08F94 (PKHD1) R C 760 rs9370096 Benign
15732 P08F94 (PKHD1) R W 760 rs9370096 Benign
15733 P08F94 (PKHD1) R H 760 rs745770404 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15734 P08F94 (PKHD1) P L 805 rs199531851 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15735 P08F94 (PKHD1) N S 830 rs62406032 Benign
15736 P08F94 (PKHD1) W R 852 - Benign
15737 P08F94 (PKHD1) T P 899 rs922828020 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15738 P08F94 (PKHD1) M K 997 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15739 P08F94 (PKHD1) A E 1030 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15740 P08F94 (PKHD1) G S 1122 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15741 P08F94 (PKHD1) G S 1123 rs142107837 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15742 P08F94 (PKHD1) Y C 1136 rs41273726 Benign
15743 P08F94 (PKHD1) A P 1150 - Benign
15744 P08F94 (PKHD1) C Y 1204 - Benign
15745 P08F94 (PKHD1) C W 1249 rs748540413 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15746 P08F94 (PKHD1) A V 1262 rs9296669 Benign
15747 P08F94 (PKHD1) S L 1283 - Benign
15748 P08F94 (PKHD1) P T 1389 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15749 P08F94 (PKHD1) L R 1407 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15750 P08F94 (PKHD1) C Y 1472 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15751 P08F94 (PKHD1) P L 1486 rs1421520936 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15752 P08F94 (PKHD1) S I 1584 rs1197981811 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15753 P08F94 (PKHD1) S F 1664 rs28937907 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15754 P08F94 (PKHD1) L F 1709 rs45517932 Benign
15755 P08F94 (PKHD1) G R 1712 rs141103838 Benign
15756 P08F94 (PKHD1) V M 1741 rs137852946 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15757 P08F94 (PKHD1) T I 1781 rs1554197025 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15758 P08F94 (PKHD1) V L 1789 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15759 P08F94 (PKHD1) V G 1817 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15760 P08F94 (PKHD1) S L 1833 rs201105958 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15761 P08F94 (PKHD1) Y C 1838 rs777999875 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15762 P08F94 (PKHD1) S N 1867 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15763 P08F94 (PKHD1) L V 1870 rs2435322 Benign
15764 P08F94 (PKHD1) V G 1875 rs202016058 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15765 P08F94 (PKHD1) Q R 1917 rs1412045164 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15766 P08F94 (PKHD1) W L 1928 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15767 P08F94 (PKHD1) D G 1942 rs1210846081 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15768 P08F94 (PKHD1) G D 1971 rs180675584 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15769 P08F94 (PKHD1) E G 1995 rs1554144359 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15770 P08F94 (PKHD1) I T 1998 rs1210348558 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15771 P08F94 (PKHD1) A T 2009 rs761786260 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15772 P08F94 (PKHD1) V L 2032 rs1187112770 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15773 P08F94 (PKHD1) L R 2106 rs1254909885 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15774 P08F94 (PKHD1) L P 2134 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15775 P08F94 (PKHD1) G E 2210 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15776 P08F94 (PKHD1) S L 2219 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15777 P08F94 (PKHD1) G R 2224 rs759687904 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15778 P08F94 (PKHD1) I F 2303 rs751084512 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15779 P08F94 (PKHD1) I K 2331 rs200179145 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15780 P08F94 (PKHD1) C G 2422 rs201881567 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15781 P08F94 (PKHD1) C R 2422 rs201881567 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15782 P08F94 (PKHD1) E V 2431 rs1280884139 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15783 P08F94 (PKHD1) R C 2573 rs752994816 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15784 P08F94 (PKHD1) A G 2615 - Benign
15785 P08F94 (PKHD1) T A 2641 rs7766366 Benign
15786 P08F94 (PKHD1) C F 2688 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15787 P08F94 (PKHD1) D Y 2761 rs1554263080 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15788 P08F94 (PKHD1) L P 2772 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15789 P08F94 (PKHD1) V G 2798 rs1554243589 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15790 P08F94 (PKHD1) C R 2803 rs398124495 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15791 P08F94 (PKHD1) M K 2804 rs794727759 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15792 P08F94 (PKHD1) S G 2861 rs150925674 Benign
15793 P08F94 (PKHD1) Y C 2863 rs1342555536 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15794 P08F94 (PKHD1) T K 2869 rs142522748 Benign
15795 P08F94 (PKHD1) T M 2938 rs776068047 Benign
15796 P08F94 (PKHD1) I T 2957 rs760222236 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15797 P08F94 (PKHD1) D G 2962 rs1554220680 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15798 P08F94 (PKHD1) S L 2983 rs141169758 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15799 P08F94 (PKHD1) S F 3018 rs137852945 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15800 P08F94 (PKHD1) V G 3036 rs893497345 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15801 P08F94 (PKHD1) H R 3049 rs367678592 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15802 P08F94 (PKHD1) D Y 3052 rs765526 Benign
15803 P08F94 (PKHD1) A V 3072 rs139306706 Benign
15804 P08F94 (PKHD1) I V 3081 rs142146981 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15805 P08F94 (PKHD1) D N 3088 rs201066635 Benign
15806 P08F94 (PKHD1) R P 3107 - Benign
15807 P08F94 (PKHD1) H Y 3124 rs1554218666 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15808 P08F94 (PKHD1) D Y 3139 rs45503297 Benign
15809 P08F94 (PKHD1) R I 3143 - Benign
15810 P08F94 (PKHD1) I L 3167 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15811 P08F94 (PKHD1) N D 3175 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15812 P08F94 (PKHD1) N S 3175 rs1343246818 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15813 P08F94 (PKHD1) I T 3177 rs200511261 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15814 P08F94 (PKHD1) A T 3207 rs1242089464 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15815 P08F94 (PKHD1) V A 3263 rs146519878 Benign
15816 P08F94 (PKHD1) D V 3293 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15817 P08F94 (PKHD1) V D 3440 rs756792624 Benign
15818 P08F94 (PKHD1) I V 3468 rs748863662 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15819 P08F94 (PKHD1) V G 3471 rs137852950 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15820 P08F94 (PKHD1) R C 3482 rs148617572 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15821 P08F94 (PKHD1) E V 3502 rs1554183496 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15822 P08F94 (PKHD1) S R 3505 rs139014478 Benign
15823 P08F94 (PKHD1) E Q 3529 rs145184792 Benign
15824 P08F94 (PKHD1) E K 3551 rs751593192 Benign
15825 P08F94 (PKHD1) I T 3553 rs137852948 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15826 P08F94 (PKHD1) C Y 3622 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15827 P08F94 (PKHD1) P S 3783 - Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15828 P08F94 (PKHD1) V I 3837 rs9474034 Benign
15829 P08F94 (PKHD1) R L 3842 rs76572975 Benign
15830 P08F94 (PKHD1) Q R 3899 rs4715227 Benign
15831 P08F94 (PKHD1) I N 3905 rs2661488 Benign
15832 P08F94 (PKHD1) R H 3913 rs2661487 Benign
15833 P08F94 (PKHD1) R C 3957 rs146680689 Disease: Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
15834 P08F94 (PKHD1) V I 3960 rs34548196 Benign
15835 P08F94 (PKHD1) Q R 4048 rs9381994 Benign
15836 P09001 (MRPL3) M T 261 rs2291381 Benign
15837 P09001 (MRPL3) P R 317 rs387906962 Disease: Combined oxidative phosphorylat ion deficiency 9 (COXPD9) [MIM:614582]
15838 P09016 (HOXD4) S P 123 rs34727427 Benign
15839 P09017 (HOXC4) R L 158 rs11835301 Benign
15840 P09017 (HOXC4) N S 178 rs35406888 Benign
15841 P09093 (CELA3A) H R 24 rs7531336 Benign
15842 P09093 (CELA3A) S P 25 rs7533776 Benign
15843 P09093 (CELA3A) H N 31 rs7519660 Benign
15844 P09093 (CELA3A) A G 241 rs3820285 Benign
15845 P09104 (ENO2) P A 264 - Benign
15846 P09104 (ENO2) T A 395 - Benign
15847 P09110 (ACAA1) E D 172 rs156265 Benign
15848 P09110 (ACAA1) V A 387 rs2229528 Benign
15849 P09131 (SLC10A3) V I 354 rs35381503 Benign
15850 P09132 (SRP19) A T 4 rs17855423 Benign
15851 P09172 (DBH) G S 12 rs5318 Benign
15852 P09172 (DBH) V M 101 rs267606760 Disease: Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]
15853 P09172 (DBH) D E 114 rs77576840 Disease: Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]
15854 P09172 (DBH) E Q 181 rs5319 Benign
15855 P09172 (DBH) A T 211 rs5320 Benign
15856 P09172 (DBH) K N 239 rs5321 Benign
15857 P09172 (DBH) E Q 250 rs5323 Benign
15858 P09172 (DBH) D N 290 rs5324 Benign
15859 P09172 (DBH) L P 317 rs5325 Benign
15860 P09172 (DBH) A S 318 rs4531 Benign
15861 P09172 (DBH) D N 345 rs267606761 Disease: Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]
15862 P09172 (DBH) R C 549 rs6271 Benign
15863 P09210 (GSTA2) P S 110 rs2234951 Benign
15864 P09210 (GSTA2) S T 112 rs2180314 Benign
15865 P09210 (GSTA2) V A 149 rs2266631 Benign
15866 P09210 (GSTA2) E A 210 rs6577 Benign
15867 P09211 (GSTP1) I V 105 rs1695 Benign
15868 P09211 (GSTP1) A V 114 rs1138272 Benign
15869 P09211 (GSTP1) G D 169 rs41462048 Benign
15870 P09237 (MMP7) R H 77 rs10502001 Benign
15871 P09237 (MMP7) G D 137 rs17884789 Benign
15872 P09237 (MMP7) P L 241 rs17886506 Benign
15873 P09238 (MMP10) L V 4 rs17435959 Benign
15874 P09238 (MMP10) R K 53 rs486055 Benign
15875 P09238 (MMP10) G R 65 rs17293607 Benign
15876 P09238 (MMP10) F L 226 rs17860971 Benign
15877 P09238 (MMP10) G E 282 rs17860973 Benign
15878 P09238 (MMP10) L F 440 rs17860996 Benign
15879 P09238 (MMP10) H L 475 rs17861009 Benign
15880 P09326 (CD48) E Q 102 rs2295615 Benign
15881 P09326 (CD48) L S 241 rs16832307 Benign
15882 P09327 (VIL1) K R 254 rs35305540 Benign
15883 P09417 (QDPR) L P 14 rs756639609 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15884 P09417 (QDPR) G R 17 rs757483045 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15885 P09417 (QDPR) G V 17 - Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15886 P09417 (QDPR) G D 18 rs1278371188 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15887 P09417 (QDPR) G D 23 rs104893863 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15888 P09417 (QDPR) W R 36 rs104893865 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15889 P09417 (QDPR) S T 51 - Benign
15890 P09417 (QDPR) Q R 66 rs1252488251 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15891 P09417 (QDPR) L P 74 rs1158304986 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15892 P09417 (QDPR) W G 108 rs104893864 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15893 P09417 (QDPR) P L 145 - Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15894 P09417 (QDPR) G R 149 rs1028029163 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15895 P09417 (QDPR) Y C 150 rs104893866 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15896 P09417 (QDPR) G S 151 - Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15897 P09417 (QDPR) H Y 158 rs750201480 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15898 P09417 (QDPR) G S 170 rs769460415 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15899 P09417 (QDPR) F C 212 rs777797545 Disease: Hyperphenyla laninemia, BH4-deficien t, C (HPABH4C) [MIM:261630]
15900 P09429 (HMGB1) E Q 156 - Benign
15901 P09466 (PAEP) L V 28 rs34284195 Benign
15902 P09466 (PAEP) Q K 126 rs3748210 Benign
15903 P09467 (FBP1) G S 164 rs121918188 Disease: Fructose-1,6 -bisphosphat ase deficiency (FBP1D) [MIM:229700]
15904 P09467 (FBP1) A D 177 rs121918189 Disease: Fructose-1,6 -bisphosphat ase deficiency (FBP1D) [MIM:229700]
15905 P09467 (FBP1) F S 194 rs121918191 Disease: Fructose-1,6 -bisphosphat ase deficiency (FBP1D) [MIM:229700]
15906 P09467 (FBP1) R K 218 rs1769259 Benign
15907 P09467 (FBP1) F I 233 rs2297085 Benign
15908 P09467 (FBP1) R L 255 rs28369761 Benign
15909 P09467 (FBP1) P R 284 rs121918192 Disease: Fructose-1,6 -bisphosphat ase deficiency (FBP1D) [MIM:229700]
15910 P09467 (FBP1) V A 325 - Benign
15911 P09471 (GNAO1) G R 40 rs886041715 Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15912 P09471 (GNAO1) S G 47 - Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15913 P09471 (GNAO1) I T 56 - Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15914 P09471 (GNAO1) D G 174 rs587777055 Disease: Epileptic encephalopat hy, early infantile, 17 (EIEE17) [MIM:615473]
15915 P09471 (GNAO1) G R 203 rs587777057 Disease: Epileptic encephalopat hy, early infantile, 17 (EIEE17) [MIM:615473]
15916 P09471 (GNAO1) R C 209 rs886039494 Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15917 P09471 (GNAO1) R G 209 rs886039494 Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15918 P09471 (GNAO1) R H 209 rs797044878 Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15919 P09471 (GNAO1) R L 209 - Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15920 P09471 (GNAO1) A V 227 rs797045599 Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15921 P09471 (GNAO1) E G 246 rs1114167431 Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15922 P09471 (GNAO1) E K 246 rs797044951 Disease: Neurodevelop mental disorder with involuntary movements (NEDIM) [MIM:617493]
15923 P09471 (GNAO1) I N 279 rs587777054 Disease: Epileptic encephalopat hy, early infantile, 17 (EIEE17) [MIM:615473]
15924 P09486 (SPARC) P S 19 rs6874468 Benign
15925 P09486 (SPARC) N S 70 rs13359508 Benign
15926 P09486 (SPARC) R H 166 rs1057517662 Disease: Osteogenesis imperfecta 17 (OI17) [MIM:616507]
15927 P09486 (SPARC) E K 263 rs1057517663 Disease: Osteogenesis imperfecta 17 (OI17) [MIM:616507]
15928 P09488 (GSTM1) K N 173 rs1065411 Benign
15929 P09488 (GSTM1) S T 210 rs449856 Benign
15930 P09493 (TPM1) E K 40 rs104894501 Disease: Cardiomyopat hy, dilated 1Y (CMD1Y) [MIM:611878]
15931 P09493 (TPM1) E K 54 rs104894505 Disease: Cardiomyopat hy, dilated 1Y (CMD1Y) [MIM:611878]
15932 P09493 (TPM1) A V 63 rs199476306 Disease: Cardiomyopat hy, familial hypertrophic 3 (CMH3) [MIM:115196]
15933 P09493 (TPM1) D N 175 rs104894503 Disease: Cardiomyopat hy, familial hypertrophic 3 (CMH3) [MIM:115196]
15934 P09493 (TPM1) E G 180 rs104894502 Disease: Cardiomyopat hy, familial hypertrophic 3 (CMH3) [MIM:115196]
15935 P09493 (TPM1) E V 180 rs104894502 Disease: Cardiomyopat hy, familial hypertrophic 3 (CMH3) [MIM:115196]
15936 P09493 (TPM1) E K 192 rs199476315 Disease: Left ventricular non- compaction 9 (LVNC9) [MIM:611878]
15937 P09493 (TPM1) K E 248 rs199476319 Disease: Left ventricular non- compaction 9 (LVNC9) [MIM:611878]
15938 P09525 (ANXA4) T M 85 rs2228203 Benign
15939 P09543 (CNP) Q R 207 rs34353668 Benign
15940 P09544 (WNT2) L R 5 rs145839592 Benign
15941 P09544 (WNT2) C F 294 rs1051751 Benign
15942 P09544 (WNT2) R W 299 rs148046128 Benign
15943 P09564 (CD7) T A 113 rs34579511 Benign
15944 P09601 (HMOX1) D H 7 rs2071747 Benign
15945 P09601 (HMOX1) P L 106 rs9282702 Benign
15946 P09603 (CSF1) S N 341 rs12565736 Benign
15947 P09603 (CSF1) L P 408 rs1058885 Benign
15948 P09603 (CSF1) G R 438 rs2229165 Benign
15949 P09603 (CSF1) F S 489 rs333971 Benign
15950 P09603 (CSF1) S F 496 rs12721516 Benign
15951 P09603 (CSF1) A V 531 rs2229167 Benign
15952 P09619 (PDGFRB) I F 29 rs17110944 Benign
15953 P09619 (PDGFRB) S F 180 rs17853027 Benign
15954 P09619 (PDGFRB) E K 282 rs34586048 Benign
15955 P09619 (PDGFRB) P S 345 rs2229558 Benign
15956 P09619 (PDGFRB) E K 485 rs41287110 Benign
15957 P09619 (PDGFRB) R C 561 rs367543286 Disease: Myofibromato sis, infantile 1 (IMF1) [MIM:228550]
15958 P09619 (PDGFRB) P R 584 rs863224946 Disease: Kosaki overgrowth syndrome (KOGS) [MIM:616592]
15959 P09619 (PDGFRB) L P 658 rs397509381 Disease: Basal ganglia calcificatio n, idiopathic, 4 (IBGC4) [MIM:615007]
15960 P09619 (PDGFRB) P T 660 rs144050370 Disease: Myofibromato sis, infantile 1 (IMF1) [MIM:228550]
15961 P09619 (PDGFRB) V A 665 rs1554108211 Disease: Premature aging syndrome, Penttinen type (PENTT) [MIM:601812]
15962 P09619 (PDGFRB) N Y 718 rs35322465 Benign
15963 P09619 (PDGFRB) R W 987 rs397509382 Disease: Basal ganglia calcificatio n, idiopathic, 4 (IBGC4) [MIM:615007]
15964 P09619 (PDGFRB) E V 1071 - Disease: Basal ganglia calcificatio n, idiopathic, 4 (IBGC4) [MIM:615007]
15965 P09622 (DLD) I T 47 rs397514651 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15966 P09622 (DLD) K E 72 rs121964987 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15967 P09622 (DLD) K T 104 rs1130477 Benign
15968 P09622 (DLD) G C 229 rs121964990 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15969 P09622 (DLD) L V 331 rs17624 Benign
15970 P09622 (DLD) M V 361 rs121964993 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15971 P09622 (DLD) E K 375 rs121964992 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15972 P09622 (DLD) I T 393 rs121964991 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15973 P09622 (DLD) D V 479 rs397514649 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15974 P09622 (DLD) R G 482 rs397514650 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15975 P09622 (DLD) P L 488 rs121964988 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15976 P09622 (DLD) R G 495 rs121964989 Disease: Dihydrolipoa mide dehydrogenas e deficiency (DLDD) [MIM:246900]
15977 P09629 (HOXB7) T A 9 rs7406910 Benign
15978 P09651 (HNRNPA1) G R 283 rs375259222 Benign
15979 P09651 (HNRNPA1) D N 314 rs397518453 Disease: Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]
15980 P09651 (HNRNPA1) D V 314 rs397518452 Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 3 (IBMPFD3) [MIM:615424]
15981 P09651 (HNRNPA1) N S 319 rs397518454 Disease: Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]
15982 P09651 (HNRNPA1) P S 340 - Disease: Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]
15983 P09668 (CTSH) G R 11 rs2289702 Benign
15984 P09668 (CTSH) A T 23 rs35001431 Benign
15985 P09668 (CTSH) C S 26 rs1036938 Benign
15986 P09668 (CTSH) H Y 179 rs1130856 Benign
15987 P09681 (GIP) S G 103 rs2291725 Benign
15988 P09681 (GIP) N S 146 rs35703924 Benign
15989 P09693 (CD3G) V F 131 rs3753058 Benign
15990 P09758 (TACSTD2) E D 147 rs1062964 Benign
15991 P09758 (TACSTD2) D A 173 rs35075952 Benign
15992 P09758 (TACSTD2) D E 216 rs14008 Benign
15993 P09769 (FGR) T I 110 rs34597831 Benign
15994 P09769 (FGR) S R 130 rs35334091 Benign
15995 P09848 (LCT) S L 190 rs35156533 Benign
15996 P09848 (LCT) V I 219 rs3754689 Benign
15997 P09848 (LCT) Q H 268 rs121908937 Disease: Congenital lactase deficiency (COLACD) [MIM:223000]
15998 P09848 (LCT) I V 362 rs4954449 Benign
15999 P09848 (LCT) G S 1363 rs386833833 Disease: Congenital lactase deficiency (COLACD) [MIM:223000]
16000 P09848 (LCT) V M 1593 rs35891837 Benign
16001 P09848 (LCT) N S 1639 rs2322659 Benign
16002 P09871 (C1S) R H 119 rs12146727 Benign
16003 P09871 (C1S) C R 294 rs886040975 Disease: Ehlers- Danlos syndrome, periodontal type, 2 (EDSPD2) [MIM:617174]
16004 P09871 (C1S) V L 327 rs2239170 Benign
16005 P09871 (C1S) R H 383 rs20573 Benign
16006 P09874 (PARP1) F L 54 rs3738708 Benign
16007 P09874 (PARP1) A T 188 rs1805409 Benign
16008 P09874 (PARP1) V I 334 rs3219057 Benign
16009 P09874 (PARP1) P S 377 rs2230484 Benign
16010 P09874 (PARP1) S Y 383 rs3219062 Benign
16011 P09874 (PARP1) V A 762 rs1136410 Benign
16012 P09874 (PARP1) K R 940 rs3219145 Benign
16013 P09884 (POLA1) I S 79 - Disease: Van Esch-O'Drisc oll syndrome (VEODS) [MIM:301030]
16014 P09884 (POLA1) G R 110 - Disease: Van Esch-O'Drisc oll syndrome (VEODS) [MIM:301030]
16015 P09884 (POLA1) Y H 740 rs2230927 Benign
16016 P09884 (POLA1) P L 1381 - Disease: Van Esch-O'Drisc oll syndrome (VEODS) [MIM:301030]
16017 P09913 (IFIT2) E A 79 rs17468739 Benign
16018 P09913 (IFIT2) K R 121 rs2070845 Benign
16019 P09913 (IFIT2) D E 352 rs1727 Benign
16020 P09914 (IFIT1) P H 131 rs11553019 Benign
16021 P09917 (ALOX5) E K 254 rs2228065 Benign
16022 P09919 (CSF3) L M 157 rs2227329 Benign
16023 P09919 (CSF3) A T 174 rs2227330 Benign
16024 P09923 (ALPI) R H 144 rs7559279 Benign
16025 P09923 (ALPI) H L 298 rs1047223 Benign
16026 P09936 (UCHL1) E A 7 rs397515634 Disease: Spastic paraplegia 79, autosomal recessive (SPG79) [MIM:615491]
16027 P09936 (UCHL1) S Y 18 rs5030732 Benign
16028 P09936 (UCHL1) I M 93 rs121917767 Disease: Parkinson disease 5 (PARK5) [MIM:613643]
16029 P09936 (UCHL1) R Q 178 rs768996179 Disease: Spastic paraplegia 79, autosomal recessive (SPG79) [MIM:615491]
16030 P09936 (UCHL1) A D 216 rs1057519600 Disease: Spastic paraplegia 79, autosomal recessive (SPG79) [MIM:615491]
16031 P09958 (FURIN) A V 43 rs16944971 Benign
16032 P09960 (LTA4H) Y H 131 rs45630737 Benign
16033 P0C024 (NUDT7) R H 100 rs308925 Benign
16034 P0C024 (NUDT7) E G 181 rs16946429 Benign
16035 P0C091 (FREM3) D N 412 rs4478130 Benign
16036 P0C091 (FREM3) D N 417 rs184496 Benign
16037 P0C0E4 (RAB40AL) D G 59 rs145606134 Disease: Mental retardation, X-linked, syndromic, Martin- Probst type (MRXSMP) [MIM:300519]
16038 P0C0L4 (C4A) L V 141 rs9296005 Benign
16039 P0C0L4 (C4A) S Y 347 rs392610 Benign
16040 P0C0L4 (C4A) V A 418 - Benign
16041 P0C0L4 (C4A) R W 477 - Benign
16042 P0C0L4 (C4A) H P 549 rs2229405 Benign
16043 P0C0L4 (C4A) P L 726 rs1215093373 Benign
16044 P0C0L4 (C4A) D N 727 - Benign
16045 P0C0L4 (C4A) A T 907 rs429329 Benign
16046 P0C0L4 (C4A) D G 1073 rs147162052 Benign
16047 P0C0L4 (C4A) N S 1176 rs17874654 Benign
16048 P0C0L4 (C4A) T S 1201 - Benign
16049 P0C0L4 (C4A) V A 1207 rs28357075 Benign
16050 P0C0L4 (C4A) L R 1210 rs28357076 Benign
16051 P0C0L4 (C4A) S A 1286 rs201016130 Benign
16052 P0C0L5 (C4B) S Y 347 rs139889867 Benign
16053 P0C0L5 (C4B) P L 478 - Benign
16054 P0C0L5 (C4B) T A 907 rs796750528 Benign
16055 P0C0L5 (C4B) G D 1073 rs2258218 Benign
16056 P0C0L5 (C4B) S N 1176 rs2746414 Benign
16057 P0C0L5 (C4B) A V 1207 rs2229403 Benign
16058 P0C0L5 (C4B) R L 1210 rs2229409 Benign
16059 P0C0L5 (C4B) I F 1317 rs2023616 Benign
16060 P0C0P6 (NPS) S L 14 rs990310 Benign
16061 P0C0P6 (NPS) V L 75 rs4751440 Benign
16062 P0C1S8 (WEE2) K T 8 rs35672788 Benign
16063 P0C1S8 (WEE2) D H 234 rs1554415096 Disease: Oocyte maturation defect 5 (OOMD5) [MIM:617996]
16064 P0C1S8 (WEE2) D E 470 rs55901099 Benign
16065 P0C1S8 (WEE2) Y D 526 rs35683659 Benign
16066 P0C221 (CCDC175) G R 164 rs17834244 Benign
16067 P0C221 (CCDC175) G E 507 rs4261431 Benign
16068 P0C221 (CCDC175) S N 689 rs12887189 Benign
16069 P0C221 (CCDC175) S R 689 rs4394993 Benign
16070 P0C263 (SBK2) E K 20 rs34316437 Benign
16071 P0C263 (SBK2) A E 41 - Benign
16072 P0C263 (SBK2) G D 102 rs56158623 Benign
16073 P0C2Y1 (NBPF7) E D 170 rs6678923 Benign
16074 P0C5J1 (FAM86B2) D Y 43 rs2684093 Benign
16075 P0C5J1 (FAM86B2) R S 285 rs7817085 Benign
16076 P0C645 (OR4E1) I L 199 rs10143044 Benign
16077 P0C645 (OR4E1) R W 238 rs970025 Benign
16078 P0C645 (OR4E1) V A 274 rs7144135 Benign
16079 P0C671 (BNIP5) L V 582 rs743852 Benign
16080 P0C6C1 (ANKRD34C) P R 369 rs410400 Benign
16081 P0C6C1 (ANKRD34C) P H 427 rs449340 Benign
16082 P0C6C1 (ANKRD34C) L I 442 rs422777 Benign
16083 P0C6P0 (NBEAP1) V A 33 rs6422240 Benign
16084 P0C6P0 (NBEAP1) T I 54 rs6422239 Benign
16085 P0C6P0 (NBEAP1) C R 81 rs7497658 Benign
16086 P0C6S8 (LINGO3) R H 426 rs7258841 Benign
16087 P0C7H9 (USP17L7) A G 161 rs17815120 Benign
16088 P0C7H9 (USP17L7) P L 494 rs9694759 Benign
16089 P0C7I6 (CCDC159) C S 278 rs6887 Benign
16090 P0C7L1 (SPINK8) K N 78 rs11718350 Benign
16091 P0C7M7 (ACSM4) R H 481 rs61584783 Benign
16092 P0C7P3 (SLFN14) Q R 93 rs10512472 Benign
16093 P0C7P3 (SLFN14) K E 218 rs869320716 Disease: Bleeding disorder, platelet- type 20 (BDPLT20) [MIM:616913]
16094 P0C7P3 (SLFN14) K N 219 rs869320715 Disease: Bleeding disorder, platelet- type 20 (BDPLT20) [MIM:616913]
16095 P0C7P3 (SLFN14) V D 220 rs869320714 Disease: Bleeding disorder, platelet- type 20 (BDPLT20) [MIM:616913]
16096 P0C7P3 (SLFN14) R W 223 rs757188030 Disease: Bleeding disorder, platelet- type 20 (BDPLT20) [MIM:616913]
16097 P0C7P3 (SLFN14) K E 385 rs321612 Benign
16098 P0C7P3 (SLFN14) G S 870 rs1350011 Benign
16099 P0C7P3 (SLFN14) S I 880 rs1350010 Benign
16100 P0C7P3 (SLFN14) L F 905 rs9907259 Benign
16101 P0C7P3 (SLFN14) Y F 912 rs8073060 Benign
16102 P0C7Q2 (ARMS2) R H 3 rs10490923 Benign
16103 P0C7Q2 (ARMS2) A S 69 rs10490924 Benign
16104 P0C7Q5 (SLC35G4) T A 104 rs8087447 Benign
16105 P0C7Q6 (SLC35G6) A T 51 rs3760422 Benign
16106 P0C7Q6 (SLC35G6) P L 251 rs4491591 Benign
16107 P0C7Q6 (SLC35G6) A T 263 rs7209977 Benign
16108 P0C7T5 (ATXN1L) S P 313 rs7194407 Benign
16109 P0C7T7 (FRMD6-AS1) G R 115 rs11845396 Benign
16110 P0C7U3 (ZDHHC11B) R Q 42 rs1809933 Benign
16111 P0C7U3 (ZDHHC11B) R G 200 rs634901 Benign
16112 P0C7U3 (ZDHHC11B) V L 228 rs3817063 Benign
16113 P0C7V0 (LINC00271) A E 112 rs13197384 Benign
16114 P0C7V8 (DCAF8L2) T A 345 rs5926895 Benign
16115 P0C7W0 (PRR29) T S 24 rs62070903 Benign
16116 P0C7X2 (ZNF688) S I 131 rs33997546 Benign
16117 P0C7X4 (FTH1P19) R H 17 rs7058438 Benign
16118 P0C7X4 (FTH1P19) A P 106 rs7055365 Benign
16119 P0C7X5 (ZNF806) V A 8 rs2459647 Benign
16120 P0C7X5 (ZNF806) A S 28 rs7340197 Benign
16121 P0C7X5 (ZNF806) F L 44 rs7355766 Benign
16122 P0C7X5 (ZNF806) K T 60 rs4953961 Benign
16123 P0C7X5 (ZNF806) M V 113 rs7355689 Benign
16124 P0C7X5 (ZNF806) G E 163 rs7349198 Benign
16125 P0C7X5 (ZNF806) R C 189 rs7349364 Benign
16126 P0C7X5 (ZNF806) A V 223 rs7349365 Benign
16127 P0C7X5 (ZNF806) V A 248 rs7349446 Benign
16128 P0C7X5 (ZNF806) V I 276 rs7349215 Benign
16129 P0C7X5 (ZNF806) G R 283 rs7349216 Benign
16130 P0C7X5 (ZNF806) G V 367 rs7340191 Benign
16131 P0C7X5 (ZNF806) D E 375 rs7340499 Benign
16132 P0C7X5 (ZNF806) E G 396 rs2598810 Benign
16133 P0C7X5 (ZNF806) F C 498 rs2598809 Benign
16134 P0C7X5 (ZNF806) C Y 539 rs2677622 Benign
16135 P0C7X5 (ZNF806) A V 556 rs2598807 Benign
16136 P0C7X5 (ZNF806) R H 561 rs7340213 Benign
16137 P0C7X5 (ZNF806) K E 564 rs2598806 Benign
16138 P0C862 (C1QTNF9) L F 6 rs1974332 Benign
16139 P0C862 (C1QTNF9) M V 219 rs3751357 Benign
16140 P0C862 (C1QTNF9) V M 301 rs4589405 Benign
16141 P0C869 (PLA2G4B) R C 191 rs3816533 Benign
16142 P0C869 (PLA2G4B) M I 239 rs2290552 Benign
16143 P0C869 (PLA2G4B) R H 391 rs34807597 Benign
16144 P0C869 (PLA2G4B) T I 591 rs36126315 Benign
16145 P0C870 (JMJD7) A G 28 rs7174710 Benign
16146 P0C870 (JMJD7) M V 160 - Benign
16147 P0CAP1 (MYZAP) A V 277 rs16977629 Benign
16148 P0CB38 (PABPC4L) V I 192 rs10009368 Benign
16149 P0CB38 (PABPC4L) S N 331 rs6830036 Benign
16150 P0CB38 (PABPC4L) H P 370 rs11099273 Benign
16151 P0CG23 (ZNF853) G R 8 rs2243563 Benign
16152 P0CG23 (ZNF853) Q R 30 rs1806552 Benign
16153 P0CG23 (ZNF853) Q E 212 rs11971880 Benign
16154 P0CG30 (GSTT2B) M I 139 rs1622002 Benign
16155 P0CG37 (CFC1) R W 78 rs2579433 Benign
16156 P0CG37 (CFC1) R C 112 rs104893611 Disease: Heterotaxy, visceral, 2, autosomal (HTX2) [MIM:605376]
16157 P0CG37 (CFC1) R C 189 rs1350439781 Benign
16158 P0CI25 (TRIM49) G R 373 rs12417980 Benign
16159 P0CJ72 (MTRNR2L5) T I 13 rs11004928 Benign
16160 P0CW18 (PRSS56) R G 176 rs387907096 Disease: Microphthalm ia, isolated, 6 (MCOP6) [MIM:613517]
16161 P0CW18 (PRSS56) G R 237 rs730882160 Disease: Microphthalm ia, isolated, 6 (MCOP6) [MIM:613517]
16162 P0CW18 (PRSS56) V F 302 rs74703359 Disease: Microphthalm ia, isolated, 6 (MCOP6) [MIM:613517]
16163 P0CW18 (PRSS56) W S 309 rs387907095 Disease: Microphthalm ia, isolated, 6 (MCOP6) [MIM:613517]
16164 P0CW18 (PRSS56) G R 320 rs730882158 Disease: Microphthalm ia, isolated, 6 (MCOP6) [MIM:613517]
16165 P0CW18 (PRSS56) C R 395 rs730882161 Disease: Microphthalm ia, isolated, 6 (MCOP6) [MIM:613517]
16166 P0CW18 (PRSS56) P A 599 rs61744404 Disease: Microphthalm ia, isolated, 6 (MCOP6) [MIM:613517]
16167 P0DI81 (TRAPPC2) D Y 47 - Disease: Spondyloepip hyseal dysplasia tarda (SEDT) [MIM:313400]
16168 P0DI81 (TRAPPC2) S L 73 rs769218264 Disease: Spondyloepip hyseal dysplasia tarda (SEDT) [MIM:313400]
16169 P0DI81 (TRAPPC2) F S 83 rs104894948 Disease: Spondyloepip hyseal dysplasia tarda (SEDT) [MIM:313400]
16170 P0DI81 (TRAPPC2) V D 130 - Disease: Spondyloepip hyseal dysplasia tarda (SEDT) [MIM:313400]
16171 P0DJI8 (SAA1) G S 15 rs1232745554 Benign
16172 P0DJI8 (SAA1) V A 70 - Benign
16173 P0DJI8 (SAA1) A V 75 - Benign
16174 P0DJI8 (SAA1) D N 78 rs557915415 Benign
16175 P0DJI8 (SAA1) F L 86 rs1059559 Benign
16176 P0DJI8 (SAA1) G D 90 rs79681911 Benign
16177 P0DJI9 (SAA2) R H 89 rs2229338 Benign
16178 P0DMM9 (SULT1A3) P H 101 rs751527244 Benign
16179 P0DMM9 (SULT1A3) P L 101 rs751527244 Benign
16180 P0DMM9 (SULT1A3) R C 144 rs1293732453 Benign
16181 P0DMM9 (SULT1A3) K N 234 rs1328799050 Benign
16182 P0DMN0 (SULT1A4) P H 101 rs1460887051 Benign
16183 P0DMN0 (SULT1A4) P L 101 rs751527244 Benign
16184 P0DMS8 (ADORA3) I L 248 rs35511654 Benign
16185 P0DMS8 (ADORA3) M K 266 rs2800889 Benign
16186 P0DMV8 (HSPA1A) E D 110 rs562047 Benign
16187 P0DMV9 (HSPA1B) I V 95 - Benign
16188 P0DMV9 (HSPA1B) A V 467 rs538280104 Benign
16189 P0DMV9 (HSPA1B) N S 499 rs483638 Benign
16190 P0DN86 (CGB3) F L 4 rs767100833 Benign
16191 P0DN86 (CGB3) T A 18 rs201240617 Benign
16192 P0DN86 (CGB3) K R 22 rs201575305 Benign
16193 P0DN86 (CGB3) R W 28 rs1261895475 Benign
16194 P0DN86 (CGB3) R H 30 rs201373221 Benign
16195 P0DN86 (CGB3) T I 35 rs201780746 Benign
16196 P0DN86 (CGB3) D A 137 rs200199557 Benign
16197 P0DN86 (CGB3) S C 147 - Benign
16198 P0DOY3 (IGLC3) K R 83 - Benign
16199 P0DP23 (CALM1) N I 54 rs267607276 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 4 (CPVT4) [MIM:614916]
16200 P0DP23 (CALM1) F L 90 rs730882253 Disease: Long QT syndrome 14 (LQT14) [MIM:616247]
16201 P0DP23 (CALM1) N S 98 rs398124647 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 4 (CPVT4) [MIM:614916]
16202 P0DP23 (CALM1) D G 130 rs730882252 Disease: Long QT syndrome 14 (LQT14) [MIM:616247]
16203 P0DP23 (CALM1) E G 141 - Disease: Long QT syndrome 14 (LQT14) [MIM:616247]
16204 P0DP23 (CALM1) F L 142 rs11551462 Disease: Long QT syndrome 14 (LQT14) [MIM:616247]
16205 P0DP24 (CALM2) D V 96 rs730882254 Disease: Long QT syndrome 15 (LQT15) [MIM:616249]
16206 P0DP24 (CALM2) N I 98 rs398124647 Disease: Long QT syndrome 15 (LQT15) [MIM:616249]
16207 P0DP24 (CALM2) N S 98 rs398124647 Disease: Long QT syndrome 15 (LQT15) [MIM:616249]
16208 P0DP24 (CALM2) D G 130 rs730882252 Disease: Long QT syndrome 15 (LQT15) [MIM:616249]
16209 P0DP24 (CALM2) D V 130 - Disease: Long QT syndrome 15 (LQT15) [MIM:616249]
16210 P0DP24 (CALM2) D E 132 rs398124648 Disease: Long QT syndrome 15 (LQT15) [MIM:616249]
16211 P0DP24 (CALM2) D H 134 rs398124650 Disease: Long QT syndrome 15 (LQT15) [MIM:616249]
16212 P0DP24 (CALM2) Q P 136 rs398124649 Disease: Long QT syndrome 15 (LQT15) [MIM:616249]
16213 P0DP25 (CALM3) A V 103 - Disease: -
16214 P0DP91 (ERCC6) G D 746 - Disease: Premature ovarian failure 11 (POF11) [MIM:616946]
16215 P0DP91 (ERCC6) R K 850 rs4253072 Benign
16216 P0DP91 (ERCC6) V I 1056 - Disease: Premature ovarian failure 11 (POF11) [MIM:616946]
16217 P0DPB3 (SCHIP1) E K 101 rs3732851 Benign
16218 P0DPB3 (SCHIP1) A V 481 rs17850021 Benign
16219 P0DPB6 (POLR1D) E K 47 rs767196650 Disease: Treacher Collins syndrome 2 (TCS2) [MIM:613717]
16220 P0DPB6 (POLR1D) T I 50 - Disease: Treacher Collins syndrome 2 (TCS2) [MIM:613717]
16221 P0DPB6 (POLR1D) L R 51 - Disease: Treacher Collins syndrome 2 (TCS2) [MIM:613717]
16222 P0DPB6 (POLR1D) G E 52 - Disease: Treacher Collins syndrome 2 (TCS2) [MIM:613717]
16223 P0DPB6 (POLR1D) R C 56 rs1014369151 Disease: Treacher Collins syndrome 2 (TCS2) [MIM:613717]
16224 P0DPB6 (POLR1D) L S 82 - Disease: Treacher Collins syndrome 2 (TCS2) [MIM:613717]
16225 P0DPB6 (POLR1D) G S 99 - Disease: Treacher Collins syndrome 2 (TCS2) [MIM:613717]
16226 P0DPD6 (ECE2) R Q 499 rs35875049 Benign
16227 P0DPD7 (EEF1AKMT4) H Y 101 rs7633387 Benign
16228 P0DPH7 (TUBA3C) V L 75 rs36215077 Benign
16229 P0DPH7 (TUBA3C) D V 392 rs17076703 Benign
16230 P0DPH7 (TUBA3C) V M 440 rs1803092 Benign
16231 P0DPI2 (GATD3A) V M 148 rs17264865 Benign
16232 P0DPI2 (GATD3A) L V 248 rs2838497 Benign
16233 P0DSE1 (TRA) G A 110 - Benign
16234 P0DSE2 (TRB) I S 114 - Benign
16235 P0DTE4 (UGT2A1) R K 75 rs1347046 Benign
16236 P0DTE4 (UGT2A1) G R 308 rs4148301 Benign
16237 P0DTE4 (UGT2A1) V I 391 rs4148304 Benign
16238 P10070 (GLI2) D H 449 rs13427953 Benign
16239 P10070 (GLI2) R P 516 - Disease: Culler-Jones syndrome (CJS) [MIM:615849]
16240 P10070 (GLI2) S I 579 rs12618388 Benign
16241 P10070 (GLI2) P L 608 rs149800897 Disease: Culler-Jones syndrome (CJS) [MIM:615849]
16242 P10070 (GLI2) P S 625 rs3099537 Benign
16243 P10070 (GLI2) A S 1156 rs3738880 Benign
16244 P10070 (GLI2) D N 1306 rs12711538 Benign
16245 P10070 (GLI2) M I 1444 rs146467786 Benign
16246 P10070 (GLI2) R H 1543 rs138987487 Benign
16247 P10071 (GLI3) T A 183 rs846266 Benign
16248 P10071 (GLI3) D E 440 - Benign
16249 P10071 (GLI3) C G 515 - Disease: Greig cephalo- poly- syndactyly syndrome (GCPS) [MIM:175700]
16250 P10071 (GLI3) C Y 520 - Disease: Greig cephalo- poly- syndactyly syndrome (GCPS) [MIM:175700]
16251 P10071 (GLI3) R W 625 rs121917712 Disease: Greig cephalo- poly- syndactyly syndrome (GCPS) [MIM:175700]
16252 P10071 (GLI3) P S 707 rs121917716 Disease: Greig cephalo- poly- syndactyly syndrome (GCPS) [MIM:175700]
16253 P10071 (GLI3) G R 727 rs121917710 Disease: Polydactyly, postaxial B (PAPB) [MIM:174200]
16254 P10071 (GLI3) I M 808 rs62622373 Benign
16255 P10071 (GLI3) A P 934 rs28933372 Disease: Greig cephalo- poly- syndactyly syndrome (GCPS) [MIM:175700]
16256 P10071 (GLI3) P L 998 rs929387 Benign
16257 P10071 (GLI3) G E 1336 rs35280470 Benign
16258 P10071 (GLI3) R C 1537 rs35364414 Benign
16259 P10072 (ZNF875) R H 448 rs2921563 Benign
16260 P10072 (ZNF875) S I 513 rs3745765 Benign
16261 P10072 (ZNF875) T I 628 rs3745764 Benign
16262 P10074 (ZBTB48) S A 675 rs2229330 Benign
16263 P10075 (GLI4) A T 180 rs1056148 Benign
16264 P10082 (PYY) R G 37 rs229969 Benign
16265 P10082 (PYY) T R 72 rs1058046 Benign
16266 P10082 (PYY) D H 95 rs465407 Benign
16267 P10124 (SRGN) R Q 31 rs2229498 Benign
16268 P10144 (GZMB) R Q 55 rs8192917 Benign
16269 P10144 (GZMB) P A 94 rs11539752 Benign
16270 P10144 (GZMB) Y H 247 rs2236338 Benign
16271 P10147 (CCL3) E D 78 rs34171309 Benign
16272 P10153 (RNASE2) H Q 100 rs8012891 Benign
16273 P10153 (RNASE2) H N 156 rs146887874 Benign
16274 P10163 (PRB4) R G 185 rs11054244 Benign
16275 P10163 (PRB4) P R 186 rs11054243 Benign
16276 P10163 (PRB4) P H 200 rs12308244 Benign
16277 P10163 (PRB4) A P 272 rs1052808 Benign
16278 P10242 (MYB) T I 336 rs2229999 Benign
16279 P10242 (MYB) T N 422 rs2230000 Benign
16280 P10244 (MYBL2) N S 341 rs6017146 Benign
16281 P10244 (MYBL2) S G 427 rs2070235 Benign
16282 P10244 (MYBL2) V M 595 rs7660 Benign
16283 P10244 (MYBL2) I M 624 rs11556379 Benign
16284 P10253 (GAA) S P 46 rs777215354 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16285 P10253 (GAA) R H 74 rs764797280 Benign
16286 P10253 (GAA) R H 89 rs200586324 Benign
16287 P10253 (GAA) D N 91 rs1800299 Benign
16288 P10253 (GAA) C G 103 rs398123174 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16289 P10253 (GAA) C R 103 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16290 P10253 (GAA) C G 108 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16291 P10253 (GAA) C F 127 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16292 P10253 (GAA) R H 190 rs528367092 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16293 P10253 (GAA) Y C 191 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16294 P10253 (GAA) H R 199 rs1042393 Benign
16295 P10253 (GAA) L P 208 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16296 P10253 (GAA) P L 217 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16297 P10253 (GAA) G R 219 rs370950728 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16298 P10253 (GAA) V L 220 rs530478036 Benign
16299 P10253 (GAA) V M 222 rs374569672 Benign
16300 P10253 (GAA) R H 223 rs1042395 Benign
16301 P10253 (GAA) R P 224 rs200210219 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16302 P10253 (GAA) R Q 224 rs200210219 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16303 P10253 (GAA) R W 224 rs757700700 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16304 P10253 (GAA) T K 234 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16305 P10253 (GAA) T R 234 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16306 P10253 (GAA) A V 237 rs121907944 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16307 P10253 (GAA) S L 251 rs200856561 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16308 P10253 (GAA) S L 254 rs577915581 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16309 P10253 (GAA) E K 262 rs201896815 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16310 P10253 (GAA) P S 266 rs1555599667 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16311 P10253 (GAA) T A 271 - Benign
16312 P10253 (GAA) P R 285 rs764622267 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16313 P10253 (GAA) P S 285 rs886042086 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16314 P10253 (GAA) N D 290 rs552929702 Benign
16315 P10253 (GAA) L F 291 rs773417785 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16316 P10253 (GAA) L P 291 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16317 P10253 (GAA) Y C 292 rs1057516600 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16318 P10253 (GAA) G R 293 rs121907945 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16319 P10253 (GAA) L R 299 rs121907940 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16320 P10253 (GAA) H L 308 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16321 P10253 (GAA) H P 308 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16322 P10253 (GAA) G R 309 rs543300039 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16323 P10253 (GAA) L R 312 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16324 P10253 (GAA) N I 316 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16325 P10253 (GAA) M K 318 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16326 P10253 (GAA) M T 318 rs121907936 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16327 P10253 (GAA) P L 324 rs750030887 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16328 P10253 (GAA) W G 330 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16329 P10253 (GAA) G E 335 rs730880022 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16330 P10253 (GAA) G R 335 rs202095215 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16331 P10253 (GAA) P R 347 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16332 P10253 (GAA) L P 355 rs766074609 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16333 P10253 (GAA) G R 359 - Benign
16334 P10253 (GAA) P L 361 rs755253527 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16335 P10253 (GAA) C R 374 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16336 P10253 (GAA) R L 375 rs142752477 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16337 P10253 (GAA) G R 377 rs752002666 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16338 P10253 (GAA) P L 397 rs776008078 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16339 P10253 (GAA) Q R 401 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16340 P10253 (GAA) W R 402 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16341 P10253 (GAA) D N 404 rs141533320 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16342 P10253 (GAA) L P 405 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16343 P10253 (GAA) M V 408 rs560575383 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16344 P10253 (GAA) D V 419 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16345 P10253 (GAA) R C 437 rs770610356 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16346 P10253 (GAA) A P 445 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16347 P10253 (GAA) Y F 455 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16348 P10253 (GAA) P H 457 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16349 P10253 (GAA) P L 457 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16350 P10253 (GAA) Y C 458 rs1358826817 Benign
16351 P10253 (GAA) G R 478 rs778068209 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16352 P10253 (GAA) W R 481 rs772883420 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16353 P10253 (GAA) P R 482 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16354 P10253 (GAA) G V 483 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16355 P10253 (GAA) A P 486 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16356 P10253 (GAA) D N 489 rs398123169 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16357 P10253 (GAA) M T 519 rs786204720 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16358 P10253 (GAA) M V 519 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16359 P10253 (GAA) E K 521 rs121907937 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16360 P10253 (GAA) E Q 521 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16361 P10253 (GAA) P A 522 rs1057517146 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16362 P10253 (GAA) P S 522 rs892129065 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16363 P10253 (GAA) S Y 523 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16364 P10253 (GAA) F Y 525 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16365 P10253 (GAA) S V 529 rs121907941 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16366 P10253 (GAA) P L 545 rs121907942 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16367 P10253 (GAA) G R 549 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16368 P10253 (GAA) L P 552 rs779556619 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16369 P10253 (GAA) I F 557 rs747150965 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16370 P10253 (GAA) C S 558 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16371 P10253 (GAA) S P 566 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16372 P10253 (GAA) H L 568 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16373 P10253 (GAA) N K 570 rs765362308 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16374 P10253 (GAA) H Q 572 rs772962666 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16375 P10253 (GAA) Y C 575 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16376 P10253 (GAA) Y S 575 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16377 P10253 (GAA) G A 576 - Benign
16378 P10253 (GAA) G S 576 rs1800307 Benign
16379 P10253 (GAA) G R 576 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16380 P10253 (GAA) E K 579 rs991082382 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16381 P10253 (GAA) R K 585 rs747373179 Benign
16382 P10253 (GAA) R M 585 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16383 P10253 (GAA) R H 594 rs775450536 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16384 P10253 (GAA) R P 594 rs775450536 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16385 P10253 (GAA) S Y 599 rs753505203 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16386 P10253 (GAA) R C 600 rs764670084 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16387 P10253 (GAA) R H 600 rs377544304 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16388 P10253 (GAA) S L 601 rs374470794 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16389 P10253 (GAA) T A 602 rs781484283 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16390 P10253 (GAA) G D 607 rs1393386120 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16391 P10253 (GAA) A V 610 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16392 P10253 (GAA) H Q 612 rs768397968 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16393 P10253 (GAA) H Y 612 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16394 P10253 (GAA) T K 614 rs369531647 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16395 P10253 (GAA) G R 615 rs549029029 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16396 P10253 (GAA) S R 619 rs914396317 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16397 P10253 (GAA) S P 627 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16398 P10253 (GAA) P L 629 rs746961289 Benign
16399 P10253 (GAA) N K 635 rs1414146587 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16400 P10253 (GAA) G V 638 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16401 P10253 (GAA) G W 638 rs757617999 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16402 P10253 (GAA) G R 643 rs28937909 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16403 P10253 (GAA) D E 645 rs28940868 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16404 P10253 (GAA) D H 645 rs368438393 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16405 P10253 (GAA) D N 645 rs368438393 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16406 P10253 (GAA) C W 647 rs776948121 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16407 P10253 (GAA) G D 648 rs1448515860 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16408 P10253 (GAA) G S 648 rs536906561 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16409 P10253 (GAA) R H 660 rs374143224 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16410 P10253 (GAA) R Q 672 rs778418246 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16411 P10253 (GAA) R T 672 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16412 P10253 (GAA) R W 672 rs757111744 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16413 P10253 (GAA) E K 689 rs1800309 Benign
16414 P10253 (GAA) R C 702 rs786204645 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16415 P10253 (GAA) R L 702 rs398123172 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16416 P10253 (GAA) T R 711 rs759292700 Benign
16417 P10253 (GAA) V I 718 rs141017311 Benign
16418 P10253 (GAA) R W 725 rs121907938 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16419 P10253 (GAA) T N 737 rs1381005435 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16420 P10253 (GAA) Q K 743 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16421 P10253 (GAA) W C 746 rs1800312 Benign
16422 P10253 (GAA) W G 746 rs1479740763 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16423 P10253 (GAA) W S 746 rs752921215 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16424 P10253 (GAA) Y C 766 rs144016984 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16425 P10253 (GAA) P R 768 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16426 P10253 (GAA) V I 780 rs1126690 Benign
16427 P10253 (GAA) V I 816 rs1800314 Benign
16428 P10253 (GAA) R P 819 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16429 P10253 (GAA) A D 880 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16430 P10253 (GAA) L Q 901 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16431 P10253 (GAA) P R 913 rs1480070037 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16432 P10253 (GAA) V F 916 rs1221948995 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16433 P10253 (GAA) T I 927 rs1800315 Benign
16434 P10253 (GAA) L P 935 - Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16435 P10253 (GAA) V D 949 rs1245412108 Disease: Glycogen storage disease 2 (GSD2) [MIM:232300]
16436 P10275 (AR) E K 2 rs104894742 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16437 P10275 (AR) Q R 196 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16438 P10275 (AR) S R 207 rs374549047 Benign
16439 P10275 (AR) G R 216 rs199554641 Benign
16440 P10275 (AR) L P 257 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16441 P10275 (AR) P R 392 rs773996740 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16442 P10275 (AR) P S 392 rs201934623 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16443 P10275 (AR) G S 492 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16444 P10275 (AR) L F 548 rs139524801 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16445 P10275 (AR) P S 549 rs137852588 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16446 P10275 (AR) C Y 560 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16447 P10275 (AR) G W 569 rs1555982864 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16448 P10275 (AR) Y C 572 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16449 P10275 (AR) A D 574 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16450 P10275 (AR) C F 577 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16451 P10275 (AR) C R 577 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16452 P10275 (AR) C F 580 rs137852586 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16453 P10275 (AR) C Y 580 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16454 P10275 (AR) V F 582 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16455 P10275 (AR) F S 583 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16456 P10275 (AR) F Y 583 rs137852587 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16457 P10275 (AR) R K 586 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16458 P10275 (AR) A T 597 rs137852569 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16459 P10275 (AR) S G 598 rs142280455 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16460 P10275 (AR) C F 602 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16461 P10275 (AR) D Y 605 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16462 P10275 (AR) R Q 608 rs137852573 Disease: Breast cancer
16463 P10275 (AR) R K 609 rs137852576 Disease: Breast cancer
16464 P10275 (AR) N T 611 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16465 P10275 (AR) C Y 612 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16466 P10275 (AR) R H 616 rs754201976 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16467 P10275 (AR) R P 616 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16468 P10275 (AR) L P 617 rs1555990488 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16469 P10275 (AR) L R 617 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16470 P10275 (AR) R P 618 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16471 P10275 (AR) A D 646 rs1800053 Benign
16472 P10275 (AR) I N 665 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16473 P10275 (AR) P H 672 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16474 P10275 (AR) L P 678 rs137852579 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16475 P10275 (AR) E K 682 rs1555995816 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16476 P10275 (AR) P T 683 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16477 P10275 (AR) V I 685 rs1555995822 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16478 P10275 (AR) C R 687 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16479 P10275 (AR) A V 688 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16480 P10275 (AR) G E 689 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16481 P10275 (AR) D H 696 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16482 P10275 (AR) D N 696 rs1555995840 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16483 P10275 (AR) D V 696 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16484 P10275 (AR) L M 701 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16485 P10275 (AR) L F 702 rs1555995851 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16486 P10275 (AR) L H 702 rs864622007 Disease: Prostate cancer
16487 P10275 (AR) S A 703 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16488 P10275 (AR) S C 704 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16489 P10275 (AR) S G 704 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16490 P10275 (AR) N S 706 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16491 P10275 (AR) N Y 706 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16492 P10275 (AR) L R 708 rs137852585 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16493 P10275 (AR) G A 709 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16494 P10275 (AR) G V 709 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16495 P10275 (AR) R T 711 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16496 P10275 (AR) Q E 712 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16497 P10275 (AR) L F 713 rs137852595 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16498 P10275 (AR) L F 723 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16499 P10275 (AR) P S 724 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16500 P10275 (AR) G D 725 - Disease: Prostate cancer
16501 P10275 (AR) F L 726 rs1555996810 Benign
16502 P10275 (AR) N K 728 rs768869912 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16503 P10275 (AR) L S 729 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16504 P10275 (AR) D N 733 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16505 P10275 (AR) D Y 733 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16506 P10275 (AR) Q H 734 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16507 P10275 (AR) I T 738 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16508 P10275 (AR) W R 742 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16509 P10275 (AR) M I 743 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16510 P10275 (AR) M V 743 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16511 P10275 (AR) G E 744 rs137852600 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16512 P10275 (AR) G V 744 rs137852600 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16513 P10275 (AR) L F 745 - Disease: Prostate cancer
16514 P10275 (AR) M T 746 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16515 P10275 (AR) V M 747 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16516 P10275 (AR) A D 749 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16517 P10275 (AR) M V 750 rs1085307685 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16518 P10275 (AR) G D 751 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16519 P10275 (AR) W R 752 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16520 P10275 (AR) R Q 753 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16521 P10275 (AR) F L 755 - Disease: Prostate cancer
16522 P10275 (AR) F V 755 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16523 P10275 (AR) N S 757 rs141425171 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16524 P10275 (AR) N T 759 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16525 P10275 (AR) S F 760 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16526 P10275 (AR) L F 763 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16527 P10275 (AR) Y C 764 rs137852567 Disease: Prostate cancer
16528 P10275 (AR) Y H 764 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16529 P10275 (AR) F L 765 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16530 P10275 (AR) A T 766 rs1555996863 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16531 P10275 (AR) A V 766 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16532 P10275 (AR) P S 767 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16533 P10275 (AR) D E 768 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16534 P10275 (AR) L P 769 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16535 P10275 (AR) N H 772 rs886041352 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16536 P10275 (AR) E A 773 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16537 P10275 (AR) E G 773 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16538 P10275 (AR) R C 775 rs137852562 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16539 P10275 (AR) R H 775 rs137852572 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16540 P10275 (AR) R W 780 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16541 P10275 (AR) M I 781 rs137852589 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16542 P10275 (AR) C Y 785 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16543 P10275 (AR) M V 788 rs137852570 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16544 P10275 (AR) R S 789 rs1254203917 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16545 P10275 (AR) L F 791 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16546 P10275 (AR) E D 794 rs1414341563 Benign
16547 P10275 (AR) F S 795 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16548 P10275 (AR) Q E 799 rs137852591 Disease: Prostate cancer
16549 P10275 (AR) C Y 807 rs1064793480 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16550 P10275 (AR) M R 808 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16551 P10275 (AR) M T 808 rs137852592 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16552 P10275 (AR) M V 808 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16553 P10275 (AR) L F 813 rs1555997625 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16554 P10275 (AR) S N 815 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16555 P10275 (AR) G A 821 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16556 P10275 (AR) L V 822 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16557 P10275 (AR) F V 828 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16558 P10275 (AR) R L 832 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16559 P10275 (AR) R Q 832 rs1386577803 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16560 P10275 (AR) Y C 835 rs1057521122 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16561 P10275 (AR) R C 841 rs137852577 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16562 P10275 (AR) R G 841 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16563 P10275 (AR) R H 841 rs9332969 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16564 P10275 (AR) R S 841 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16565 P10275 (AR) I S 842 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16566 P10275 (AR) I T 843 rs9332970 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16567 P10275 (AR) R K 855 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16568 P10275 (AR) R C 856 rs886041132 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16569 P10275 (AR) R H 856 rs9332971 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16570 P10275 (AR) F L 857 rs137852598 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16571 P10275 (AR) L R 864 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16572 P10275 (AR) D G 865 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16573 P10275 (AR) D N 865 rs1555997810 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16574 P10275 (AR) S P 866 rs137852597 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16575 P10275 (AR) V E 867 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16576 P10275 (AR) V L 867 rs137852564 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16577 P10275 (AR) V M 867 rs137852564 Disease: Prostate cancer
16578 P10275 (AR) I M 870 rs137852574 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16579 P10275 (AR) A G 871 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16580 P10275 (AR) A V 871 rs143040492 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16581 P10275 (AR) R G 872 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16582 P10275 (AR) H R 875 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16583 P10275 (AR) D Y 880 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16584 P10275 (AR) L V 882 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16585 P10275 (AR) M V 887 rs755226547 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16586 P10275 (AR) V M 890 rs886041133 Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16587 P10275 (AR) P L 893 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16588 P10275 (AR) M T 896 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16589 P10275 (AR) I T 899 rs1555998105 Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16590 P10275 (AR) V M 904 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16591 P10275 (AR) P H 905 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16592 P10275 (AR) P S 905 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16593 P10275 (AR) L F 908 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16594 P10275 (AR) G R 910 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16595 P10275 (AR) V L 912 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16596 P10275 (AR) P S 914 - Disease: Androgen insensitivit y, partial (PAIS) [MIM:312300]
16597 P10275 (AR) F L 917 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16598 P10275 (AR) H R 918 - Disease: Androgen insensitivit y syndrome (AIS) [MIM:300068]
16599 P10321 (HLA-C) R Q 7 - Benign
16600 P10321 (HLA-C) A T 8 - Benign
16601 P10321 (HLA-C) L I 10 rs2308527 Benign
16602 P10321 (HLA-C) G A 16 - Benign
16603 P10321 (HLA-C) T I 20 - Benign
16604 P10321 (HLA-C) C G 25 - Benign
16605 P10321 (HLA-C) R K 30 - Benign
16606 P10321 (HLA-C) D F 33 - Benign
16607 P10321 (HLA-C) D S 33 - Benign
16608 P10321 (HLA-C) D Y 33 - Benign
16609 P10321 (HLA-C) A S 35 - Benign
16610 P10321 (HLA-C) R W 38 - Benign
16611 P10321 (HLA-C) G S 40 - Benign
16612 P10321 (HLA-C) R H 45 - Benign
16613 P10321 (HLA-C) S A 48 rs707911 Benign
16614 P10321 (HLA-C) R Q 59 - Benign
16615 P10321 (HLA-C) A E 73 rs1050409 Benign
16616 P10321 (HLA-C) K N 90 - Benign
16617 P10321 (HLA-C) A T 97 rs41543814 Benign
16618 P10321 (HLA-C) S N 101 - Benign
16619 P10321 (HLA-C) N K 104 - Benign
16620 P10321 (HLA-C) D A 114 - Benign
16621 P10321 (HLA-C) T I 118 - Benign
16622 P10321 (HLA-C) L F 119 - Benign
16623 P10321 (HLA-C) L I 119 - Benign
16624 P10321 (HLA-C) R W 121 - Benign
16625 P10321 (HLA-C) S C 123 - Benign
16626 P10321 (HLA-C) S F 123 - Benign
16627 P10321 (HLA-C) S Y 123 - Benign
16628 P10321 (HLA-C) L V 127 - Benign
16629 P10321 (HLA-C) Y H 137 - Benign
16630 P10321 (HLA-C) D N 138 - Benign
16631 P10321 (HLA-C) S F 140 - Benign
16632 P10321 (HLA-C) S L 140 - Benign
16633 P10321 (HLA-C) S Y 140 - Benign
16634 P10321 (HLA-C) T K 162 - Benign
16635 P10321 (HLA-C) T S 167 - Benign
16636 P10321 (HLA-C) L W 171 - Benign
16637 P10321 (HLA-C) A E 176 - Benign
16638 P10321 (HLA-C) A T 176 - Benign
16639 P10321 (HLA-C) L D 180 - Benign
16640 P10321 (HLA-C) L Q 180 - Benign
16641 P10321 (HLA-C) L R 180 - Benign
16642 P10321 (HLA-C) L W 180 - Benign
16643 P10321 (HLA-C) T E 187 - Benign
16644 P10321 (HLA-C) T L 187 - Benign
16645 P10321 (HLA-C) R G 194 - Benign
16646 P10321 (HLA-C) E K 197 - Benign
16647 P10321 (HLA-C) E K 201 - Benign
16648 P10321 (HLA-C) P H 208 - Benign
16649 P10321 (HLA-C) P R 208 - Benign
16650 P10321 (HLA-C) P L 217 - Benign
16651 P10321 (HLA-C) L V 218 - Benign
16652 P10321 (HLA-C) A T 235 - Benign
16653 P10321 (HLA-C) R W 243 - Benign
16654 P10321 (HLA-C) V M 272 rs1050276 Benign
16655 P10321 (HLA-C) Q E 277 - Benign
16656 P10321 (HLA-C) M V 285 - Benign
16657 P10321 (HLA-C) Q P 291 - Benign
16658 P10321 (HLA-C) L C 294 - Benign
16659 P10321 (HLA-C) S R 297 - Benign
16660 P10321 (HLA-C) E G 299 - Benign
16661 P10321 (HLA-C) E K 299 - Benign
16662 P10321 (HLA-C) M V 309 - Benign
16663 P10321 (HLA-C) V A 319 - Benign
16664 P10321 (HLA-C) V M 327 - Benign
16665 P10321 (HLA-C) V M 328 - Benign
16666 P10321 (HLA-C) T A 329 - Benign
16667 P10321 (HLA-C) A V 330 - Benign
16668 P10321 (HLA-C) M V 331 - Benign
16669 P10321 (HLA-C) M I 332 - Benign
16670 P10321 (HLA-C) C H 333 - Benign
16671 P10321 (HLA-C) C S 350 - Benign
16672 P10321 (HLA-C) T A 363 - Benign
16673 P10323 (ACR) L V 120 rs1064734 Benign
16674 P10323 (ACR) F L 166 rs1064735 Benign
16675 P10398 (ARAF) M T 98 rs56197559 Benign
16676 P10398 (ARAF) E D 578 rs55852926 Benign
16677 P10412 (H1-4) K R 152 rs2298090 Benign
16678 P10415 (BCL2) T S 7 - Benign
16679 P10415 (BCL2) A T 43 rs1800477 Benign
16680 P10451 (SPP1) S N 224 rs7435825 Benign
16681 P10451 (SPP1) R H 301 rs4660 Benign
16682 P10515 (DLAT) A V 43 rs2303436 Benign
16683 P10515 (DLAT) S F 98 rs537057 Benign
16684 P10515 (DLAT) L F 99 rs537060 Benign
16685 P10515 (DLAT) Q R 209 rs11553595 Benign
16686 P10515 (DLAT) D V 313 rs11553592 Benign
16687 P10515 (DLAT) V A 318 rs627441 Benign
16688 P10515 (DLAT) D N 451 rs10891314 Benign
16689 P10523 (SAG) I V 76 rs7565275 Benign
16690 P10523 (SAG) R C 84 rs115857633 Benign
16691 P10523 (SAG) T M 125 rs137886124 Benign
16692 P10523 (SAG) P L 364 rs112613526 Benign
16693 P10523 (SAG) V I 378 rs200602069 Benign
16694 P10523 (SAG) R C 384 rs1427707173 Benign
16695 P10523 (SAG) V A 403 rs1046976 Benign
16696 P10523 (SAG) V I 403 rs1046974 Benign
16697 P10586 (PTPRF) A V 412 rs1065775 Benign
16698 P10586 (PTPRF) Y C 450 rs3748796 Benign
16699 P10586 (PTPRF) D N 562 rs3748800 Benign
16700 P10589 (NR2F1) R K 112 rs587777277 Disease: Bosch- Boonstra- Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]
16701 P10589 (NR2F1) S R 113 rs587777275 Disease: Bosch- Boonstra- Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]
16702 P10589 (NR2F1) R P 115 rs587777274 Disease: Bosch- Boonstra- Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]
16703 P10589 (NR2F1) L P 252 rs587777276 Disease: Bosch- Boonstra- Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]
16704 P10600 (TGFB3) T M 60 rs4252315 Benign
16705 P10600 (TGFB3) C Y 409 rs398122984 Disease: Loeys-Dietz syndrome 5 (LDS5) [MIM:615582]
16706 P10619 (CTSA) Q R 49 rs137854541 Disease: Galactosiali dosis (GSL) [MIM:256540]
16707 P10619 (CTSA) S Y 51 rs538562022 Disease: Galactosiali dosis (GSL) [MIM:256540]
16708 P10619 (CTSA) W R 65 rs28934603 Disease: Galactosiali dosis (GSL) [MIM:256540]
16709 P10619 (CTSA) S L 90 rs137854542 Disease: Galactosiali dosis (GSL) [MIM:256540]
16710 P10619 (CTSA) V M 132 rs137854545 Disease: Galactosiali dosis (GSL) [MIM:256540]
16711 P10619 (CTSA) L P 236 rs137854546 Disease: Galactosiali dosis (GSL) [MIM:256540]
16712 P10619 (CTSA) Y N 249 rs137854544 Disease: Galactosiali dosis (GSL) [MIM:256540]
16713 P10619 (CTSA) Y C 395 rs137854543 Disease: Galactosiali dosis (GSL) [MIM:256540]
16714 P10619 (CTSA) M T 406 rs137854548 Disease: Galactosiali dosis (GSL) [MIM:256540]
16715 P10619 (CTSA) G S 439 rs137854547 Disease: Galactosiali dosis (GSL) [MIM:256540]
16716 P10619 (CTSA) F V 440 rs137854540 Disease: Galactosiali dosis (GSL) [MIM:256540]
16717 P10619 (CTSA) K E 453 rs137854549 Disease: Galactosiali dosis (GSL) [MIM:256540]
16718 P10632 (CYP2C8) R K 139 rs11572080 Benign
16719 P10632 (CYP2C8) E D 154 - Benign
16720 P10632 (CYP2C8) G S 171 rs142886225 Benign
16721 P10632 (CYP2C8) R G 186 rs72558195 Benign
16722 P10632 (CYP2C8) N K 193 - Benign
16723 P10632 (CYP2C8) I M 223 - Benign
16724 P10632 (CYP2C8) A P 238 rs188934928 Benign
16725 P10632 (CYP2C8) I V 244 rs11572102 Benign
16726 P10632 (CYP2C8) K R 247 rs769460274 Benign
16727 P10632 (CYP2C8) K R 249 - Benign
16728 P10632 (CYP2C8) I M 264 rs1058930 Benign
16729 P10632 (CYP2C8) I F 269 rs11572103 Benign
16730 P10632 (CYP2C8) K N 383 - Benign
16731 P10632 (CYP2C8) L S 390 rs72558194 Benign
16732 P10632 (CYP2C8) K R 399 rs10509681 Benign
16733 P10632 (CYP2C8) H L 411 - Benign
16734 P10635 (CYP2D6) A V 5 rs773790593 Benign
16735 P10635 (CYP2D6) V M 11 rs769258 Benign
16736 P10635 (CYP2D6) R Q 25 rs138417770 Benign
16737 P10635 (CYP2D6) R H 26 rs28371696 Benign
16738 P10635 (CYP2D6) R C 28 rs138100349 Benign
16739 P10635 (CYP2D6) P S 34 rs1065852 Benign
16740 P10635 (CYP2D6) G R 42 rs5030862 Benign
16741 P10635 (CYP2D6) A V 85 rs267608310 Benign
16742 P10635 (CYP2D6) L M 91 rs28371703 Benign
16743 P10635 (CYP2D6) H R 94 rs28371704 Benign
16744 P10635 (CYP2D6) V A 104 rs76187628 Benign
16745 P10635 (CYP2D6) T I 107 rs28371706 Benign
16746 P10635 (CYP2D6) F I 120 rs1135822 Benign
16747 P10635 (CYP2D6) L S 142 rs375135093 Benign
16748 P10635 (CYP2D6) K R 147 rs569229126 Benign
16749 P10635 (CYP2D6) E K 155 rs28371710 Benign
16750 P10635 (CYP2D6) C S 161 - Benign
16751 P10635 (CYP2D6) F L 164 - Benign
16752 P10635 (CYP2D6) G R 169 rs5030865 Benign
16753 P10635 (CYP2D6) G E 212 rs5030866 Benign
16754 P10635 (CYP2D6) E K 215 rs567606867 Benign
16755 P10635 (CYP2D6) F S 219 rs371793722 Benign
16756 P10635 (CYP2D6) L P 231 rs17002853 Benign
16757 P10635 (CYP2D6) A S 237 rs28371717 Benign
16758 P10635 (CYP2D6) T P 249 - Benign
16759 P10635 (CYP2D6) R C 296 rs16947 Benign
16760 P10635 (CYP2D6) I L 297 rs949717872 Benign
16761 P10635 (CYP2D6) A G 300 rs1058170 Benign
16762 P10635 (CYP2D6) S L 311 rs1800754 Benign
16763 P10635 (CYP2D6) H P 324 rs5030867 Benign
16764 P10635 (CYP2D6) V M 327 - Benign
16765 P10635 (CYP2D6) R L 329 rs3915951 Benign
16766 P10635 (CYP2D6) D N 336 rs745746329 Benign
16767 P10635 (CYP2D6) D G 337 rs748712690 Benign
16768 P10635 (CYP2D6) V M 342 rs750996195 Benign
16769 P10635 (CYP2D6) R G 343 rs267608295 Benign
16770 P10635 (CYP2D6) R Q 344 rs76088846 Benign
16771 P10635 (CYP2D6) R H 365 rs1058172 Benign
16772 P10635 (CYP2D6) I T 369 - Benign
16773 P10635 (CYP2D6) G S 373 rs61737946 Benign
16774 P10635 (CYP2D6) E K 410 rs769157652 Benign
16775 P10635 (CYP2D6) E K 418 rs28371733 Benign
16776 P10635 (CYP2D6) R C 440 rs777560972 Benign
16777 P10635 (CYP2D6) F L 457 - Benign
16778 P10635 (CYP2D6) H D 463 - Benign
16779 P10635 (CYP2D6) P A 469 rs1135833 Benign
16780 P10635 (CYP2D6) H Y 478 rs28371735 Benign
16781 P10635 (CYP2D6) S T 486 rs1135840 Benign
16782 P10635 (CYP2D6) R C 497 rs370580423 Benign
16783 P10636 (MAPT) R H 5 rs63750959 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16784 P10636 (MAPT) R L 5 rs63750959 Disease: Progressive supranuclear palsy 1 (PSNP1) [MIM:601104]
16785 P10636 (MAPT) T M 17 rs144611688 Benign
16786 P10636 (MAPT) T A 30 rs748728879 Benign
16787 P10636 (MAPT) D N 285 rs62063786 Benign
16788 P10636 (MAPT) V A 289 rs62063787 Benign
16789 P10636 (MAPT) R W 370 rs17651549 Benign
16790 P10636 (MAPT) Y H 441 rs2258689 Benign
16791 P10636 (MAPT) S P 447 rs10445337 Benign
16792 P10636 (MAPT) K T 574 rs63750129 Disease: Pick disease of the brain (PIDB) [MIM:172700]
16793 P10636 (MAPT) L V 583 rs63750349 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16794 P10636 (MAPT) G V 589 rs63750376 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16795 P10636 (MAPT) N K 596 rs63750756 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16796 P10636 (MAPT) N H 613 rs63750416 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16797 P10636 (MAPT) V I 617 rs116733906 Benign
16798 P10636 (MAPT) P L 618 rs63751273 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16799 P10636 (MAPT) P S 618 rs63751438 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16800 P10636 (MAPT) G V 620 rs63751391 Disease: Progressive supranuclear palsy 1 (PSNP1) [MIM:601104]
16801 P10636 (MAPT) S N 622 rs63751165 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16802 P10636 (MAPT) K M 634 rs63750092 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16803 P10636 (MAPT) S F 637 rs63750635 Disease: Pick disease of the brain (PIDB) [MIM:172700]
16804 P10636 (MAPT) V M 654 rs63750570 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16805 P10636 (MAPT) E V 659 rs63750711 Disease: Frontotempor al dementia (FTD) [MIM:600274]
16806 P10636 (MAPT) S L 669 rs63750425 Benign
16807 P10636 (MAPT) K I 686 rs63751264 Disease: Pick disease of the brain (PIDB) [MIM:172700]
16808 P10636 (MAPT) G R 706 rs63750512 Disease: Pick disease of the brain (PIDB) [MIM:172700]
16809 P10636 (MAPT) R W 723 rs63750424 Benign
16810 P10643 (C7) C R 128 rs2271708 Benign
16811 P10643 (C7) R Q 220 rs369349760 Disease: Complement component 7 deficiency (C7D) [MIM:610102]
16812 P10643 (C7) R H 222 rs75345202 Benign
16813 P10643 (C7) G R 379 rs121964921 Disease: Complement component 7 deficiency (C7D) [MIM:610102]
16814 P10643 (C7) S T 389 rs1063499 Benign
16815 P10643 (C7) K Q 420 rs3792646 Benign
16816 P10643 (C7) R S 521 rs121964920 Disease: Complement component 7 deficiency (C7D) [MIM:610102]
16817 P10643 (C7) T P 587 rs13157656 Benign
16818 P10643 (C7) E Q 682 rs541873000 Disease: Complement component 7 deficiency (C7D) [MIM:610102]
16819 P10643 (C7) R H 687 rs113187203 Disease: Complement component 7 deficiency (C7D) [MIM:610102]
16820 P10644 (PRKAR1A) S N 9 - Disease: Carney complex 1 (CNC1) [MIM:160980]
16821 P10644 (PRKAR1A) R C 74 rs137853303 Disease: Carney complex 1 (CNC1) [MIM:160980]
16822 P10644 (PRKAR1A) R S 146 - Disease: Carney complex 1 (CNC1) [MIM:160980]
16823 P10644 (PRKAR1A) Y C 175 - Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16824 P10644 (PRKAR1A) D Y 183 - Disease: Carney complex 1 (CNC1) [MIM:160980]
16825 P10644 (PRKAR1A) A D 213 rs281864786 Disease: Carney complex 1 (CNC1) [MIM:160980]
16826 P10644 (PRKAR1A) A T 213 - Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16827 P10644 (PRKAR1A) D N 227 - Benign
16828 P10644 (PRKAR1A) T A 239 - Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16829 P10644 (PRKAR1A) Q R 285 rs1555814719 Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16830 P10644 (PRKAR1A) G E 289 - Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16831 P10644 (PRKAR1A) G W 289 - Disease: Carney complex 1 (CNC1) [MIM:160980]
16832 P10644 (PRKAR1A) I T 327 rs387906695 Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16833 P10644 (PRKAR1A) A V 328 - Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16834 P10644 (PRKAR1A) R L 335 - Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16835 P10644 (PRKAR1A) R P 335 rs387906694 Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16836 P10644 (PRKAR1A) Y C 373 - Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16837 P10644 (PRKAR1A) Y H 373 rs387906693 Disease: Acrodysostos is 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
16838 P10645 (CHGA) R Q 61 rs3742712 Benign
16839 P10645 (CHGA) E K 176 rs9658654 Benign
16840 P10645 (CHGA) E D 264 rs9658655 Benign
16841 P10645 (CHGA) R W 271 rs9658662 Benign
16842 P10645 (CHGA) A G 274 rs9658663 Benign
16843 P10645 (CHGA) G S 315 rs9658664 Benign
16844 P10645 (CHGA) L P 332 rs9658665 Benign
16845 P10645 (CHGA) D N 369 rs2228575 Benign
16846 P10645 (CHGA) G S 382 rs9658667 Benign
16847 P10645 (CHGA) P L 388 rs9658668 Benign
16848 P10645 (CHGA) R Q 392 rs9658669 Benign
16849 P10645 (CHGA) R W 399 rs729940 Benign
16850 P10646 (TFPI) V M 292 rs5940 Benign
16851 P10696 (ALPG) L M 273 rs17416141 Benign
16852 P10696 (ALPG) L R 316 rs183793479 Benign
16853 P10696 (ALPG) G E 527 rs1048999 Benign
16854 P10721 (KIT) V I 532 rs55792975 Benign
16855 P10721 (KIT) M L 541 rs3822214 Benign
16856 P10721 (KIT) M V 541 rs3822214 Benign
16857 P10721 (KIT) K I 550 - Disease: Gastrointest inal stromal tumor (GIST) [MIM:606764]
16858 P10721 (KIT) V A 559 rs121913517 Disease: Gastrointest inal stromal tumor (GIST) [MIM:606764]
16859 P10721 (KIT) V D 559 rs121913517 Disease: Gastrointest inal stromal tumor (GIST) [MIM:606764]
16860 P10721 (KIT) E K 583 rs121913680 Disease: Piebald trait (PBT) [MIM:172800]
16861 P10721 (KIT) F C 584 rs28933371 Disease: Piebald trait (PBT) [MIM:172800]
16862 P10721 (KIT) F L 584 rs794726671 Disease: Piebald trait (PBT) [MIM:172800]
16863 P10721 (KIT) G R 601 - Disease: Piebald trait (PBT) [MIM:172800]
16864 P10721 (KIT) L P 656 - Disease: Piebald trait (PBT) [MIM:172800]
16865 P10721 (KIT) G R 664 rs121913679 Disease: Piebald trait (PBT) [MIM:172800]
16866 P10721 (KIT) C S 691 rs35200131 Benign
16867 P10721 (KIT) S N 715 rs56094246 Benign
16868 P10721 (KIT) R G 791 - Disease: Piebald trait (PBT) [MIM:172800]
16869 P10721 (KIT) R G 796 rs121913684 Disease: Piebald trait (PBT) [MIM:172800]
16870 P10721 (KIT) G V 812 - Disease: Piebald trait (PBT) [MIM:172800]
16871 P10721 (KIT) D F 816 - Disease: Mastocytosis , cutaneous (MASTC) [MIM:154800]
16872 P10721 (KIT) D I 816 rs1057519709 Disease: Mastocytosis , cutaneous (MASTC) [MIM:154800]
16873 P10721 (KIT) D V 816 rs121913507 Disease: Mast cell leukemia
16874 P10721 (KIT) D Y 816 rs121913506 Disease: Mastocytosis , systemic (MASTSYS) [MIM:154800]
16875 P10721 (KIT) D G 820 rs121913682 Benign
16876 P10721 (KIT) N I 822 - Disease: Mastocytosis , cutaneous (MASTC) [MIM:154800]
16877 P10721 (KIT) E K 839 rs121913509 Disease: Mastocytosis , cutaneous (MASTC) [MIM:154800]
16878 P10721 (KIT) T P 847 rs121913687 Disease: Piebald trait (PBT) [MIM:172800]
16879 P10745 (RBP3) G V 18 rs864621997 Benign
16880 P10745 (RBP3) R H 122 rs41302693 Benign
16881 P10745 (RBP3) V M 155 rs782157576 Benign
16882 P10745 (RBP3) S P 163 rs35686775 Benign
16883 P10745 (RBP3) V M 196 rs782398712 Benign
16884 P10745 (RBP3) R Q 267 rs200239015 Benign
16885 P10745 (RBP3) V M 282 rs782095820 Benign
16886 P10745 (RBP3) T I 321 rs376854254 Benign
16887 P10745 (RBP3) A T 325 rs368898051 Benign
16888 P10745 (RBP3) R H 346 rs111245635 Benign
16889 P10745 (RBP3) A T 379 rs781840247 Benign
16890 P10745 (RBP3) S L 433 rs375761633 Benign
16891 P10745 (RBP3) R S 443 rs864621999 Benign
16892 P10745 (RBP3) H L 505 rs201808774 Benign
16893 P10745 (RBP3) Q R 518 rs563600593 Benign
16894 P10745 (RBP3) H Q 523 rs148093336 Benign
16895 P10745 (RBP3) R C 535 rs143632019 Benign
16896 P10745 (RBP3) R H 544 rs41284962 Benign
16897 P10745 (RBP3) V A 593 rs782233167 Benign
16898 P10745 (RBP3) I V 599 rs144289912 Benign
16899 P10745 (RBP3) D N 614 rs149642039 Benign
16900 P10745 (RBP3) A V 615 rs368920246 Benign
16901 P10745 (RBP3) T I 675 rs864622000 Benign
16902 P10745 (RBP3) A V 688 rs200168559 Benign
16903 P10745 (RBP3) V M 693 rs112888313 Benign
16904 P10745 (RBP3) P L 723 rs148247227 Benign
16905 P10745 (RBP3) G S 741 rs143110000 Benign
16906 P10745 (RBP3) R C 747 rs782664364 Benign
16907 P10745 (RBP3) N K 785 rs864622001 Benign
16908 P10745 (RBP3) R C 833 rs142945423 Benign
16909 P10745 (RBP3) G S 835 rs782480179 Benign
16910 P10745 (RBP3) V M 884 rs11204213 Benign
16911 P10745 (RBP3) T R 903 rs373766942 Benign
16912 P10745 (RBP3) S R 921 rs548622709 Benign
16913 P10745 (RBP3) E K 956 rs781847641 Benign
16914 P10745 (RBP3) T I 963 rs200706310 Benign
16915 P10745 (RBP3) S Y 1021 rs148591757 Benign
16916 P10745 (RBP3) V I 1059 rs864622002 Benign
16917 P10745 (RBP3) D N 1080 rs146150511 Disease: Retinitis pigmentosa 66 (RP66) [MIM:615233]
16918 P10745 (RBP3) T M 1194 rs782099994 Benign
16919 P10746 (UROS) V F 3 rs773301339 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16920 P10746 (UROS) L F 4 rs121908015 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16921 P10746 (UROS) Y C 19 - Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16922 P10746 (UROS) S P 47 rs397515527 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16923 P10746 (UROS) P L 53 rs121908013 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16924 P10746 (UROS) T A 62 rs28941775 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16925 P10746 (UROS) A V 66 rs28941774 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16926 P10746 (UROS) A T 69 - Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16927 P10746 (UROS) C R 73 rs121908012 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16928 P10746 (UROS) V F 82 rs121908016 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16929 P10746 (UROS) V A 99 - Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16930 P10746 (UROS) A V 104 rs397515528 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16931 P10746 (UROS) K R 124 rs17153561 Benign
16932 P10746 (UROS) I T 129 - Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16933 P10746 (UROS) V G 171 rs17173752 Benign
16934 P10746 (UROS) G R 188 rs121908017 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16935 P10746 (UROS) G W 188 rs121908017 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16936 P10746 (UROS) S P 212 rs139388833 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16937 P10746 (UROS) I S 219 rs767029901 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16938 P10746 (UROS) G S 225 rs121908020 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16939 P10746 (UROS) T M 228 rs121908014 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16940 P10746 (UROS) L P 237 rs777433697 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16941 P10746 (UROS) P Q 248 rs121908021 Disease: Congenital erythropoiet ic porphyria (CEP) [MIM:263700]
16942 P10767 (FGF6) V A 36 rs11613495 Benign
16943 P10767 (FGF6) A V 63 rs17183529 Benign
16944 P10767 (FGF6) D V 174 rs7961645 Benign
16945 P10767 (FGF6) R W 191 rs17183778 Benign
16946 P10768 (ESD) G E 190 rs9778 Benign
16947 P10768 (ESD) G D 257 rs15303 Benign
16948 P10809 (HSPD1) D G 29 rs72466451 Disease: Leukodystrop hy, hypomyelinat ing, 4 (HLD4) [MIM:612233]
16949 P10809 (HSPD1) V I 98 rs66468541 Disease: Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280]
16950 P10826 (RARB) L P 220 - Disease: Microphthalm ia, syndromic, 12 (MCOPS12) [MIM:615524]
16951 P10826 (RARB) G A 303 - Disease: Microphthalm ia, syndromic, 12 (MCOPS12) [MIM:615524]
16952 P10826 (RARB) R C 394 - Disease: Microphthalm ia, syndromic, 12 (MCOPS12) [MIM:615524]
16953 P10826 (RARB) R S 394 - Disease: Microphthalm ia, syndromic, 12 (MCOPS12) [MIM:615524]
16954 P10827 (THRA) A V 263 rs1555545033 Disease: Hypothyroidi sm, congenital, non- goitrous, 6 (CHNG6) [MIM:614450]
16955 P10827 (THRA) N Y 359 - Disease: Hypothyroidi sm, congenital, non- goitrous, 6 (CHNG6) [MIM:614450]
16956 P10828 (THRB) D G 216 rs9865746 Benign
16957 P10828 (THRB) A T 234 rs121918694 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16958 P10828 (THRB) R W 243 rs121918707 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16959 P10828 (THRB) A G 268 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16960 P10828 (THRB) R H 316 rs121918695 Disease: Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]
16961 P10828 (THRB) A T 317 rs121918690 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16962 P10828 (THRB) R C 320 rs121918696 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16963 P10828 (THRB) R H 320 rs121918693 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16964 P10828 (THRB) N D 331 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16965 P10828 (THRB) G R 332 rs28999969 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16966 P10828 (THRB) A P 335 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16967 P10828 (THRB) T I 337 rs1054624 Benign
16968 P10828 (THRB) R W 338 rs121918697 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16969 P10828 (THRB) Q H 340 rs121918688 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16970 P10828 (THRB) L P 341 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16971 P10828 (THRB) K I 342 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16972 P10828 (THRB) G R 345 rs121918686 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16973 P10828 (THRB) G S 345 rs121918686 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16974 P10828 (THRB) G V 345 rs28999970 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16975 P10828 (THRB) L F 346 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16976 P10828 (THRB) G E 347 rs28999971 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16977 P10828 (THRB) V E 348 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16978 P10828 (THRB) T I 426 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16979 P10828 (THRB) R Q 429 rs1553609210 Disease: Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]
16980 P10828 (THRB) I M 431 rs1553609195 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16981 P10828 (THRB) R H 438 rs121918698 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16982 P10828 (THRB) M V 442 rs121918691 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16983 P10828 (THRB) K E 443 rs121918692 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16984 P10828 (THRB) C R 446 rs121918703 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16985 P10828 (THRB) P T 447 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16986 P10828 (THRB) P H 453 rs121918687 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16987 P10828 (THRB) P L 453 - Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16988 P10828 (THRB) P S 453 rs28933408 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16989 P10828 (THRB) P T 453 rs28933408 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16990 P10828 (THRB) F C 459 rs121918702 Disease: Generalized thyroid hormone resistance (GTHR) [MIM:188570]
16991 P10909 (CLU) N H 317 rs9331936 Benign
16992 P10909 (CLU) D N 328 rs9331938 Benign
16993 P10909 (CLU) S L 396 rs13494 Benign
16994 P10912 (GHR) C S 56 - Disease: Laron syndrome (LARS) [MIM:262500]
16995 P10912 (GHR) S L 58 - Disease: Laron syndrome (LARS) [MIM:262500]
16996 P10912 (GHR) E K 62 rs121909361 Disease: Growth hormone insensitivit y, partial (GHIP) [MIM:604271]
16997 P10912 (GHR) W R 68 - Disease: Laron syndrome (LARS) [MIM:262500]
16998 P10912 (GHR) R K 89 - Disease: Laron syndrome (LARS) [MIM:262500]
16999 P10912 (GHR) F S 114 rs121909357 Disease: Laron syndrome (LARS) [MIM:262500]
17000 P10912 (GHR) V A 143 - Disease: Laron syndrome (LARS) [MIM:262500]
17001 P10912 (GHR) P Q 149 rs121909365 Disease: Laron syndrome (LARS) [MIM:262500]
17002 P10912 (GHR) V F 162 rs6413484 Benign
17003 P10912 (GHR) V D 162 - Disease: Laron syndrome (LARS) [MIM:262500]
17004 P10912 (GHR) D H 170 rs121909366 Disease: Laron syndrome (LARS) [MIM:262500]
17005 P10912 (GHR) I T 171 rs121909367 Disease: Laron syndrome (LARS) [MIM:262500]
17006 P10912 (GHR) Q P 172 rs121909368 Disease: Laron syndrome (LARS) [MIM:262500]
17007 P10912 (GHR) V G 173 rs121909369 Disease: Laron syndrome (LARS) [MIM:262500]
17008 P10912 (GHR) R H 179 rs6181 Benign
17009 P10912 (GHR) R C 179 rs121909362 Disease: Laron syndrome (LARS) [MIM:262500]
17010 P10912 (GHR) Y C 226 - Disease: Laron syndrome (LARS) [MIM:262500]
17011 P10912 (GHR) R G 229 - Disease: Laron syndrome (LARS) [MIM:262500]
17012 P10912 (GHR) S I 244 rs1164396446 Disease: Laron syndrome (LARS) [MIM:262500]
17013 P10912 (GHR) D N 262 - Disease: Laron syndrome (LARS) [MIM:262500]
17014 P10912 (GHR) C F 440 rs6182 Benign
17015 P10912 (GHR) E K 465 rs34283856 Benign
17016 P10912 (GHR) P T 495 rs6183 Benign
17017 P10912 (GHR) I L 544 rs6180 Benign
17018 P10912 (GHR) P T 579 rs6184 Benign
17019 P10914 (IRF1) M L 8 rs121912469 Disease: Gastric cancer (GASC) [MIM:613659]
17020 P10914 (IRF1) W R 11 rs121912470 Disease: Gastric cancer (GASC) [MIM:613659]
17021 P10915 (HAPLN1) N S 281 rs6864342 Benign
17022 P10916 (MYL2) A T 13 rs104894363 Disease: Cardiomyopat hy, familial hypertrophic 10 (CMH10) [MIM:608758]
17023 P10916 (MYL2) F L 18 rs104894370 Disease: Cardiomyopat hy, familial hypertrophic 10 (CMH10) [MIM:608758]
17024 P10916 (MYL2) E K 22 rs104894368 Disease: Cardiomyopat hy, familial hypertrophic 10 (CMH10) [MIM:608758]
17025 P10916 (MYL2) G R 57 rs2428140 Benign
17026 P10916 (MYL2) R Q 58 rs104894369 Disease: Cardiomyopat hy, familial hypertrophic 10 (CMH10) [MIM:608758]
17027 P10916 (MYL2) P A 95 rs121913658 Disease: Cardiomyopat hy, familial hypertrophic 10 (CMH10) [MIM:608758]
17028 P10916 (MYL2) D V 166 rs199474815 Disease: Cardiomyopat hy, familial hypertrophic 10 (CMH10) [MIM:608758]
17029 P10997 (IAPP) S G 53 rs1800203 Benign
17030 P11021 (HSPA5) N H 543 rs35356639 Benign
17031 P11047 (LAMC1) I V 458 rs20563 Benign
17032 P11047 (LAMC1) E K 731 rs2230157 Benign
17033 P11047 (LAMC1) L P 888 rs20558 Benign
17034 P11047 (LAMC1) R Q 1121 rs20559 Benign
17035 P11055 (MYH3) T I 178 rs121913619 Disease: Arthrogrypos is, distal, 2B3 (DA2B3) [MIM:618436]
17036 P11055 (MYH3) A T 234 rs121913623 Disease: Arthrogrypos is, distal, 2B3 (DA2B3) [MIM:618436]
17037 P11055 (MYH3) S F 261 - Disease: Arthrogrypos is, distal, 2B3 (DA2B3) [MIM:618436]
17038 P11055 (MYH3) F V 287 - Disease: Contractures , pterygia, and variable skeletal fusions syndrome 1A (CPSKF1A) [MIM:178110]
17039 P11055 (MYH3) T R 333 - Disease: Contractures , pterygia, and variable skeletal fusions syndrome 1A (CPSKF1A) [MIM:178110]
17040 P11055 (MYH3) E G 498 - Disease: Arthrogrypos is, distal, 2A (DA2A) [MIM:193700]
17041 P11055 (MYH3) Y S 583 - Disease: Arthrogrypos is, distal, 2A (DA2A) [MIM:193700]
17042 P11055 (MYH3) R C 672 rs121913618 Disease: Arthrogrypos is, distal, 2A (DA2A) [MIM:193700]
17043 P11055 (MYH3) R H 672 rs121913617 Disease: Arthrogrypos is, distal, 2A (DA2A) [MIM:193700]
17044 P11055 (MYH3) G V 769 - Disease: Arthrogrypos is, distal, 2B3 (DA2B3) [MIM:618436]
17045 P11055 (MYH3) V D 825 rs121913620 Disease: Arthrogrypos is, distal, 2A (DA2A) [MIM:193700]
17046 P11055 (MYH3) K E 838 - Disease: Arthrogrypos is, distal, 2B3 (DA2B3) [MIM:618436]
17047 P11055 (MYH3) A V 1003 rs34088014 Benign
17048 P11055 (MYH3) Q P 1075 rs796051884 Disease: Contractures , pterygia, and variable skeletal fusions syndrome 1A (CPSKF1A) [MIM:178110]
17049 P11055 (MYH3) R C 1137 rs12941197 Benign
17050 P11055 (MYH3) A T 1192 rs2285477 Benign
17051 P11055 (MYH3) T I 1313 rs35230241 Benign
17052 P11055 (MYH3) D A 1622 rs1446303362 Benign
17053 P11055 (MYH3) A V 1637 rs34165480 Benign
17054 P11086 (PNMT) N S 9 rs11569781 Benign
17055 P11086 (PNMT) T A 98 rs36060376 Benign
17056 P11086 (PNMT) R C 112 rs34530498 Benign
17057 P11086 (PNMT) A T 175 rs34341496 Benign
17058 P11086 (PNMT) S C 188 rs5639 Benign
17059 P11086 (PNMT) L H 211 rs5640 Benign
17060 P11086 (PNMT) L Q 217 rs5641 Benign
17061 P11086 (PNMT) R H 254 rs5642 Benign
17062 P11086 (PNMT) W R 276 rs5643 Benign
17063 P11117 (ACP2) R Q 29 rs2167079 Benign
17064 P11117 (ACP2) S F 320 rs34425282 Benign
17065 P11117 (ACP2) V I 402 rs4647764 Benign
17066 P11137 (MAP2) A G 82 rs2271251 Benign
17067 P11137 (MAP2) E G 179 rs6749066 Benign
17068 P11137 (MAP2) R K 423 rs741006 Benign
17069 P11137 (MAP2) H L 976 rs13425372 Benign
17070 P11137 (MAP2) G R 991 rs35927101 Benign
17071 P11137 (MAP2) M V 1099 rs17745550 Benign
17072 P11142 (HSPA8) D Y 32 rs11551602 Benign
17073 P11142 (HSPA8) F L 459 rs11551598 Benign
17074 P11150 (LIPC) V M 95 rs6078 Benign
17075 P11150 (LIPC) N S 215 rs6083 Benign
17076 P11150 (LIPC) S F 289 rs121912502 Disease: Hepatic lipase deficiency (HL deficiency) [MIM:614025]
17077 P11150 (LIPC) V I 342 rs145811475 Benign
17078 P11150 (LIPC) F L 356 rs3829462 Benign
17079 P11150 (LIPC) T M 405 rs113298164 Disease: Hepatic lipase deficiency (HL deficiency) [MIM:614025]
17080 P11150 (LIPC) D A 409 rs142036980 Benign
17081 P11150 (LIPC) S N 440 rs6079 Benign
17082 P11161 (EGR2) I N 268 rs104894158 Disease: Neuropathy, congenital hypomyelinat ing, 1, autosomal recessive (CHN1) [MIM:605253]
17083 P11161 (EGR2) D V 355 - Disease: Charcot- Marie-Tooth disease 1D (CMT1D) [MIM:607678]
17084 P11161 (EGR2) R W 359 rs104894161 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
17085 P11161 (EGR2) R C 381 - Disease: Charcot- Marie-Tooth disease 1D (CMT1D) [MIM:607678]
17086 P11161 (EGR2) R H 381 rs281865137 Disease: Charcot- Marie-Tooth disease 1D (CMT1D) [MIM:607678]
17087 P11161 (EGR2) D Y 383 rs104894160 Disease: Charcot- Marie-Tooth disease 1D (CMT1D) [MIM:607678]
17088 P11161 (EGR2) R W 409 rs104894159 Disease: Charcot- Marie-Tooth disease 1D (CMT1D) [MIM:607678]
17089 P11161 (EGR2) D G 411 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
17090 P11161 (EGR2) E G 412 rs749558026 Disease: Charcot- Marie-Tooth disease 1D (CMT1D) [MIM:607678]
17091 P11161 (EGR2) E K 412 rs121434563 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
17092 P11166 (SLC2A1) N I 34 rs80359812 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17093 P11166 (SLC2A1) N S 34 - Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17094 P11166 (SLC2A1) N Y 34 - Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17095 P11166 (SLC2A1) S F 66 rs80359813 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17096 P11166 (SLC2A1) M T 77 rs1187210267 Disease: Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
17097 P11166 (SLC2A1) G D 91 rs80359814 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17098 P11166 (SLC2A1) R W 92 rs202060209 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17099 P11166 (SLC2A1) R W 93 rs267607061 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17100 P11166 (SLC2A1) S I 95 rs267607060 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17101 P11166 (SLC2A1) M V 96 rs753161833 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17102 P11166 (SLC2A1) R C 126 rs80359818 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17103 P11166 (SLC2A1) R H 126 rs80359816 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17104 P11166 (SLC2A1) R L 126 rs80359816 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17105 P11166 (SLC2A1) G S 130 rs80359819 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17106 P11166 (SLC2A1) E K 146 rs80359820 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17107 P11166 (SLC2A1) R C 153 - Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17108 P11166 (SLC2A1) R H 153 rs794727642 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17109 P11166 (SLC2A1) A V 155 - Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17110 P11166 (SLC2A1) V I 165 rs1057520545 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17111 P11166 (SLC2A1) R C 212 rs387907312 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17112 P11166 (SLC2A1) R H 212 rs886039517 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17113 P11166 (SLC2A1) R S 218 - Disease: Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
17114 P11166 (SLC2A1) R P 223 rs397514564 Disease: Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
17115 P11166 (SLC2A1) R W 223 rs796053248 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17116 P11166 (SLC2A1) R C 232 rs387907313 Disease: Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
17117 P11166 (SLC2A1) E V 243 - Disease: Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
17118 P11166 (SLC2A1) K E 256 rs121909738 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17119 P11166 (SLC2A1) A T 275 rs121909740 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17120 P11166 (SLC2A1) G D 286 rs864309514 Disease: Stomatin- deficient cryohydrocyt osis with neurologic defects (SDCHCN) [MIM:608885]
17121 P11166 (SLC2A1) S P 294 - Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17122 P11166 (SLC2A1) T M 295 rs80359823 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17123 P11166 (SLC2A1) V L 303 rs1205631854 Benign
17124 P11166 (SLC2A1) T I 310 rs80359824 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17125 P11166 (SLC2A1) G S 314 rs121909739 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17126 P11166 (SLC2A1) N T 317 - Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17127 P11166 (SLC2A1) S L 324 rs796053253 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17128 P11166 (SLC2A1) E Q 329 - Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17129 P11166 (SLC2A1) R Q 333 rs1553155986 Disease: GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
17130 P11166 (SLC2A1) R W 333 rs80359825 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17131 P11166 (SLC2A1) G D 382 - Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17132 P11166 (SLC2A1) A D 405 - Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17133 P11166 (SLC2A1) N S 411 rs398123069 Disease: Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
17134 P11166 (SLC2A1) R W 458 rs13306758 Disease: Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
17135 P11166 (SLC2A1) R W 468 rs267607059 Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17136 P11166 (SLC2A1) P L 485 - Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
17137 P11168 (SLC2A2) P L 68 rs7637863 Benign
17138 P11168 (SLC2A2) V I 101 rs1800572 Benign
17139 P11168 (SLC2A2) T I 110 rs5400 Benign
17140 P11168 (SLC2A2) V I 197 rs121909741 Benign
17141 P11168 (SLC2A2) L P 389 rs121909747 Disease: Fanconi- Bickel syndrome (FBS) [MIM:227810]
17142 P11168 (SLC2A2) I T 404 rs2229608 Benign
17143 P11168 (SLC2A2) P L 417 rs121909744 Disease: Fanconi- Bickel syndrome (FBS) [MIM:227810]
17144 P11168 (SLC2A2) V E 423 rs28928874 Disease: Fanconi- Bickel syndrome (FBS) [MIM:227810]
17145 P11168 (SLC2A2) L V 478 rs5397 Benign
17146 P11169 (SLC2A3) V L 85 rs17728193 Benign
17147 P11171 (EPB41) V I 214 rs111642750 Benign
17148 P11172 (UMPS) S G 30 rs17843776 Benign
17149 P11172 (UMPS) R G 96 rs121917890 Disease: Orotic aciduria 1 (ORAC1) [MIM:258900]
17150 P11172 (UMPS) V G 109 rs121917892 Disease: Orotic aciduria 1 (ORAC1) [MIM:258900]
17151 P11172 (UMPS) G A 213 rs1801019 Benign
17152 P11172 (UMPS) G R 429 rs121917891 Disease: Orotic aciduria 1 (ORAC1) [MIM:258900]
17153 P11172 (UMPS) I V 446 rs3772809 Benign
17154 P11177 (PDHB) L V 31 - Benign
17155 P11177 (PDHB) Y C 132 rs28935769 Disease: Pyruvate dehydrogenas e E1-beta deficiency (PDHBD) [MIM:614111]
17156 P11177 (PDHB) P S 344 rs28933391 Disease: Pyruvate dehydrogenas e E1-beta deficiency (PDHBD) [MIM:614111]
17157 P11182 (DBT) I M 98 rs121965001 Disease: Maple syrup urine disease 2 (MSUD2) [MIM:248600]
17158 P11182 (DBT) F C 276 rs121964999 Disease: Maple syrup urine disease 2 (MSUD2) [MIM:248600]
17159 P11182 (DBT) G S 384 rs12021720 Disease: Maple syrup urine disease 2 (MSUD2) [MIM:248600]
17160 P11215 (ITGAM) R H 77 rs1143679 Benign
17161 P11215 (ITGAM) M T 441 rs1143680 Benign
17162 P11215 (ITGAM) A V 858 rs1143683 Benign
17163 P11215 (ITGAM) P S 1146 rs1143678 Benign
17164 P11216 (PYGB) A S 303 rs2228976 Benign
17165 P11216 (PYGB) D N 502 rs2227891 Benign
17166 P11217 (PYGM) L P 116 rs776680924 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17167 P11217 (PYGM) R W 194 rs376581557 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17168 P11217 (PYGM) G S 205 rs119103251 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17169 P11217 (PYGM) L P 292 rs780375860 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17170 P11217 (PYGM) E K 349 - Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17171 P11217 (PYGM) L P 397 rs1005687078 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17172 P11217 (PYGM) R G 414 rs11231866 Benign
17173 P11217 (PYGM) T N 488 rs1555134900 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17174 P11217 (PYGM) K T 543 rs119103252 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17175 P11217 (PYGM) R W 602 rs750195683 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17176 P11217 (PYGM) E K 655 rs119103253 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17177 P11217 (PYGM) A D 660 - Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17178 P11217 (PYGM) Q E 666 rs119103256 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17179 P11217 (PYGM) N Y 685 - Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17180 P11217 (PYGM) G R 686 rs144081869 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17181 P11217 (PYGM) A P 687 - Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17182 P11217 (PYGM) A V 704 rs1483102315 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17183 P11217 (PYGM) W R 798 rs119103258 Disease: Glycogen storage disease 5 (GSD5) [MIM:232600]
17184 P11226 (MBL2) R C 52 rs5030737 Benign
17185 P11226 (MBL2) G D 54 rs1800450 Benign
17186 P11226 (MBL2) G E 57 rs1800451 Benign
17187 P11226 (MBL2) N Y 214 rs12260094 Benign
17188 P11230 (CHRNB1) E G 32 rs17856697 Benign
17189 P11230 (CHRNB1) D Y 124 rs17856698 Benign
17190 P11230 (CHRNB1) L M 285 rs137852811 Disease: Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]
17191 P11230 (CHRNB1) V A 289 - Disease: Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]
17192 P11230 (CHRNB1) V M 289 rs137852810 Disease: Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]
17193 P11245 (NAT2) L I 24 rs45477599 Benign
17194 P11245 (NAT2) R Q 64 rs1801279 Benign
17195 P11245 (NAT2) R W 64 rs1805158 Benign
17196 P11245 (NAT2) I T 114 rs1801280 Benign
17197 P11245 (NAT2) D N 122 rs4986996 Benign
17198 P11245 (NAT2) L V 135 rs12720065 Benign
17199 P11245 (NAT2) L F 137 rs4986997 Benign
17200 P11245 (NAT2) Q P 145 rs72554616 Benign
17201 P11245 (NAT2) T M 193 rs79050330 Benign
17202 P11245 (NAT2) R Q 197 rs1799930 Benign
17203 P11245 (NAT2) Y H 208 rs56387565 Benign
17204 P11245 (NAT2) P L 228 rs45518335 Benign
17205 P11245 (NAT2) K R 268 rs1208 Benign
17206 P11245 (NAT2) V M 280 rs56393504 Benign
17207 P11245 (NAT2) K T 282 rs56054745 Benign
17208 P11245 (NAT2) G E 286 rs1799931 Benign
17209 P11274 (BCR) I M 413 rs56321828 Benign
17210 P11274 (BCR) K T 558 rs4437065 Benign
17211 P11274 (BCR) D E 752 rs12484731 Benign
17212 P11274 (BCR) N S 796 rs140504 Benign
17213 P11274 (BCR) Y C 910 rs35537221 Benign
17214 P11274 (BCR) V I 949 rs2229038 Benign
17215 P11274 (BCR) E K 1037 rs776552570 Benign
17216 P11274 (BCR) V M 1091 rs778229520 Benign
17217 P11274 (BCR) T A 1096 rs745459086 Benign
17218 P11274 (BCR) A G 1104 rs11558696 Benign
17219 P11274 (BCR) D N 1106 rs879255379 Benign
17220 P11274 (BCR) T M 1127 rs35812689 Benign
17221 P11274 (BCR) A T 1149 rs200099830 Benign
17222 P11274 (BCR) E K 1161 - Benign
17223 P11274 (BCR) K E 1187 rs1195127922 Benign
17224 P11274 (BCR) V M 1189 rs55816482 Benign
17225 P11274 (BCR) A G 1204 rs56265970 Benign
17226 P11274 (BCR) W R 1235 rs55719322 Benign
17227 P11277 (SPTB) W R 202 rs121918646 Disease: Spherocytosi s 2 (SPH2) [MIM:616649]
17228 P11277 (SPTB) S N 439 rs229587 Benign
17229 P11277 (SPTB) E K 525 rs55752508 Benign
17230 P11277 (SPTB) S I 613 rs3742601 Benign
17231 P11277 (SPTB) N D 1151 rs77806 Benign
17232 P11277 (SPTB) H R 1374 rs10132778 Benign
17233 P11277 (SPTB) R Q 1403 rs17180350 Benign
17234 P11277 (SPTB) G R 1408 rs17245552 Benign
17235 P11277 (SPTB) A G 2018 rs121918647 Disease: Elliptocytos is 3 (EL3) [MIM:617948]
17236 P11277 (SPTB) S P 2019 rs121918648 Disease: Elliptocytos is 3 (EL3) [MIM:617948]
17237 P11277 (SPTB) A V 2023 rs367841692 Disease: Elliptocytos is 3 (EL3) [MIM:617948]
17238 P11277 (SPTB) W R 2024 rs1225539653 Disease: Elliptocytos is 3 (EL3) [MIM:617948]
17239 P11277 (SPTB) L R 2025 rs121918649 Disease: Elliptocytos is 3 (EL3) [MIM:617948]
17240 P11277 (SPTB) A P 2053 rs121918645 Disease: Elliptocytos is 3 (EL3) [MIM:617948]
17241 P11279 (LAMP1) I T 309 rs9577230 Benign
17242 P11309 (PIM1) E Q 124 rs35760989 Benign
17243 P11309 (PIM1) E K 135 rs200523275 Benign
17244 P11309 (PIM1) E D 142 rs33989191 Benign
17245 P11310 (ACADM) R C 53 rs398123072 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17246 P11310 (ACADM) Y H 67 rs121434280 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17247 P11310 (ACADM) I T 78 rs398123074 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17248 P11310 (ACADM) C Y 116 rs875989859 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17249 P11310 (ACADM) T I 121 rs121434283 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17250 P11310 (ACADM) M I 149 rs121434277 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17251 P11310 (ACADM) T A 193 rs121434279 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17252 P11310 (ACADM) G R 195 rs121434278 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17253 P11310 (ACADM) R L 206 rs200724875 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17254 P11310 (ACADM) C R 244 rs121434276 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17255 P11310 (ACADM) S L 245 rs121434281 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17256 P11310 (ACADM) G R 267 rs121434274 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17257 P11310 (ACADM) R T 281 rs121434282 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17258 P11310 (ACADM) G R 310 rs747268471 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17259 P11310 (ACADM) M T 326 rs786204631 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17260 P11310 (ACADM) K E 329 rs77931234 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17261 P11310 (ACADM) S R 336 - Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17262 P11310 (ACADM) Y C 352 rs1227800781 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17263 P11310 (ACADM) I T 375 rs121434275 Disease: Acyl-CoA dehydrogenas e medium-chain deficiency (ACADMD) [MIM:201450]
17264 P11362 (FGFR1) R S 22 rs17175750 Benign
17265 P11362 (FGFR1) G S 48 rs121909640 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17266 P11362 (FGFR1) G R 70 rs140254426 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17267 P11362 (FGFR1) N K 77 rs767195580 Benign
17268 P11362 (FGFR1) R C 78 rs1554570706 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17269 P11362 (FGFR1) G D 97 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17270 P11362 (FGFR1) Y C 99 rs727505373 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17271 P11362 (FGFR1) C F 101 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17272 P11362 (FGFR1) V I 102 rs55642501 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17273 P11362 (FGFR1) V I 116 rs747842199 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17274 P11362 (FGFR1) N S 117 rs780765366 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17275 P11362 (FGFR1) D A 129 rs765615419 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17276 P11362 (FGFR1) L S 165 rs397515481 Disease: Hartsfield syndrome (HRTFDS) [MIM:615465]
17277 P11362 (FGFR1) A S 167 rs121909630 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17278 P11362 (FGFR1) V A 174 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17279 P11362 (FGFR1) C S 178 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17280 P11362 (FGFR1) L S 191 rs869025669 Disease: Hartsfield syndrome (HRTFDS) [MIM:615465]
17281 P11362 (FGFR1) W G 213 rs17851623 Benign
17282 P11362 (FGFR1) D H 224 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17283 P11362 (FGFR1) Y D 228 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17284 P11362 (FGFR1) G D 237 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17285 P11362 (FGFR1) G S 237 rs121909635 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17286 P11362 (FGFR1) I T 239 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17287 P11362 (FGFR1) L P 245 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17288 P11362 (FGFR1) R Q 250 rs121909645 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17289 P11362 (FGFR1) R W 250 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17290 P11362 (FGFR1) P R 252 rs121909627 Disease: Pfeiffer syndrome (PS) [MIM:101600]
17291 P11362 (FGFR1) R Q 254 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17292 P11362 (FGFR1) G D 270 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17293 P11362 (FGFR1) V M 273 rs1131691929 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17294 P11362 (FGFR1) E G 274 rs727505369 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17295 P11362 (FGFR1) C Y 277 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17296 P11362 (FGFR1) P R 283 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17297 P11362 (FGFR1) I T 300 rs121909633 Disease: Trigonocepha ly 1 (TRIGNO1) [MIM:190440]
17298 P11362 (FGFR1) N I 330 rs121909632 Disease: Osteoglophon ic dysplasia (OGD) [MIM:166250]
17299 P11362 (FGFR1) S C 332 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17300 P11362 (FGFR1) Y C 339 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17301 P11362 (FGFR1) L S 342 rs121909638 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17302 P11362 (FGFR1) A V 343 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17303 P11362 (FGFR1) S C 346 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17304 P11362 (FGFR1) G R 348 rs886037634 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17305 P11362 (FGFR1) P L 366 rs121909641 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17306 P11362 (FGFR1) Y C 374 rs121909631 Disease: Osteoglophon ic dysplasia (OGD) [MIM:166250]
17307 P11362 (FGFR1) C R 381 rs121909634 Disease: Osteoglophon ic dysplasia (OGD) [MIM:166250]
17308 P11362 (FGFR1) R L 470 rs121909637 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17309 P11362 (FGFR1) P T 483 rs397515444 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17310 P11362 (FGFR1) G R 490 rs869025670 Disease: Hartsfield syndrome (HRTFDS) [MIM:615465]
17311 P11362 (FGFR1) A T 520 rs749758370 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17312 P11362 (FGFR1) I V 538 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17313 P11362 (FGFR1) N K 546 rs779707422 Disease: Encephalocra niocutaneous lipomatosis (ECCL) [MIM:613001]
17314 P11362 (FGFR1) V M 561 - Benign
17315 P11362 (FGFR1) V M 607 rs121909629 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17316 P11362 (FGFR1) K N 618 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17317 P11362 (FGFR1) H R 621 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17318 P11362 (FGFR1) R G 622 rs121909628 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17319 P11362 (FGFR1) R Q 622 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17320 P11362 (FGFR1) D Y 623 rs398122946 Disease: Hartsfield syndrome (HRTFDS) [MIM:615465]
17321 P11362 (FGFR1) R T 627 rs869025671 Disease: Hartsfield syndrome (HRTFDS) [MIM:615465]
17322 P11362 (FGFR1) N K 628 rs869025672 Disease: Hartsfield syndrome (HRTFDS) [MIM:615465]
17323 P11362 (FGFR1) K E 656 rs869320694 Disease: Encephalocra niocutaneous lipomatosis (ECCL) [MIM:613001]
17324 P11362 (FGFR1) W R 666 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17325 P11362 (FGFR1) E K 670 rs397515446 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17326 P11362 (FGFR1) A P 671 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17327 P11362 (FGFR1) S F 685 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17328 P11362 (FGFR1) G R 687 rs727505376 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17329 P11362 (FGFR1) E G 692 rs397515445 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17330 P11362 (FGFR1) I F 693 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17331 P11362 (FGFR1) G R 703 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17332 P11362 (FGFR1) G S 703 rs768957161 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17333 P11362 (FGFR1) M R 719 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17334 P11362 (FGFR1) P H 722 rs267606805 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17335 P11362 (FGFR1) P S 722 rs121909642 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17336 P11362 (FGFR1) N K 724 rs267606806 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17337 P11362 (FGFR1) C Y 725 rs398122945 Disease: Hartsfield syndrome (HRTFDS) [MIM:615465]
17338 P11362 (FGFR1) P S 745 - Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17339 P11362 (FGFR1) D Y 768 rs121909644 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17340 P11362 (FGFR1) L V 769 rs2956723 Benign
17341 P11362 (FGFR1) P S 772 rs56234888 Benign
17342 P11362 (FGFR1) V I 795 rs781328162 Disease: Hypogonadotr opic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
17343 P11362 (FGFR1) G R 818 rs17182456 Benign
17344 P11362 (FGFR1) R C 822 rs17182463 Benign
17345 P11387 (TOP1) G S 214 rs6029542 Benign
17346 P11388 (TOP2A) R Q 450 rs746765101 Benign
17347 P11388 (TOP2A) R K 487 rs267607133 Benign
17348 P11388 (TOP2A) T K 1324 rs28969502 Benign
17349 P11388 (TOP2A) G D 1386 rs34300454 Benign
17350 P11388 (TOP2A) A S 1515 rs11540720 Benign
17351 P11413 (G6PD) H R 32 rs137852340 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17352 P11413 (G6PD) A G 44 rs78478128 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17353 P11413 (G6PD) I T 48 rs76645461 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17354 P11413 (G6PD) D N 58 rs137852315 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17355 P11413 (G6PD) V M 68 rs1050828 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17356 P11413 (G6PD) Y H 70 rs137852349 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17357 P11413 (G6PD) L P 75 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17358 P11413 (G6PD) R C 81 rs138687036 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17359 P11413 (G6PD) R H 81 rs782308266 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17360 P11413 (G6PD) S C 106 rs267606835 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17361 P11413 (G6PD) N D 126 rs1050829 Benign
17362 P11413 (G6PD) L P 128 rs78365220 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17363 P11413 (G6PD) G V 131 rs137852341 Benign
17364 P11413 (G6PD) E K 156 rs137852313 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17365 P11413 (G6PD) G D 163 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17366 P11413 (G6PD) G S 163 rs137852314 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17367 P11413 (G6PD) N D 165 rs137852331 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17368 P11413 (G6PD) R H 166 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17369 P11413 (G6PD) D G 176 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17370 P11413 (G6PD) D V 181 rs5030872 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17371 P11413 (G6PD) R W 182 rs267606836 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17372 P11413 (G6PD) S F 184 rs782315572 Benign
17373 P11413 (G6PD) S F 188 rs5030868 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17374 P11413 (G6PD) R C 198 rs137852330 Benign
17375 P11413 (G6PD) R H 198 rs137852332 Benign
17376 P11413 (G6PD) R P 198 rs137852332 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17377 P11413 (G6PD) R S 198 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17378 P11413 (G6PD) M V 212 rs782754619 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17379 P11413 (G6PD) V L 213 rs137852326 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17380 P11413 (G6PD) F L 216 rs137852319 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17381 P11413 (G6PD) R Q 227 rs137852328 Benign
17382 P11413 (G6PD) R L 227 rs137852328 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17383 P11413 (G6PD) R G 257 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17384 P11413 (G6PD) E K 274 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17385 P11413 (G6PD) S F 278 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17386 P11413 (G6PD) T S 279 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17387 P11413 (G6PD) D H 282 rs137852318 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17388 P11413 (G6PD) R H 285 rs74575103 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17389 P11413 (G6PD) V M 291 rs137852327 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17390 P11413 (G6PD) E K 317 rs137852339 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17391 P11413 (G6PD) G V 321 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17392 P11413 (G6PD) Y H 322 rs137852347 Benign
17393 P11413 (G6PD) L P 323 rs76723693 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17394 P11413 (G6PD) A T 335 rs5030869 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17395 P11413 (G6PD) L F 342 rs137852342 Benign
17396 P11413 (G6PD) P S 353 rs137852333 Benign
17397 P11413 (G6PD) N K 363 rs137852329 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17398 P11413 (G6PD) C R 385 rs137852322 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17399 P11413 (G6PD) K E 386 rs137852320 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17400 P11413 (G6PD) R C 387 rs137852334 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17401 P11413 (G6PD) R H 387 rs137852321 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17402 P11413 (G6PD) R H 393 rs137852316 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17403 P11413 (G6PD) V L 394 rs137852335 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17404 P11413 (G6PD) P L 396 rs1557229683 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17405 P11413 (G6PD) E K 398 rs137852325 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17406 P11413 (G6PD) G C 410 rs137852323 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17407 P11413 (G6PD) G D 410 rs137852336 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17408 P11413 (G6PD) E K 416 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17409 P11413 (G6PD) R P 439 rs137852337 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17410 P11413 (G6PD) L F 440 rs1557229599 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17411 P11413 (G6PD) G R 447 rs137852317 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17412 P11413 (G6PD) Q H 449 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17413 P11413 (G6PD) R C 454 rs398123546 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17414 P11413 (G6PD) R H 454 rs137852324 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17415 P11413 (G6PD) R L 459 rs72554665 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17416 P11413 (G6PD) R P 459 rs72554665 Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17417 P11413 (G6PD) R H 463 rs72554664 Benign
17418 P11413 (G6PD) G V 488 - Disease: Anemia, non- spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
17419 P11464 (PSG1) E Q 41 rs707744 Benign
17420 P11464 (PSG1) T P 43 rs707745 Benign
17421 P11464 (PSG1) E K 47 rs1058956 Benign
17422 P11464 (PSG1) T A 63 rs1064479 Benign
17423 P11464 (PSG1) R K 73 rs1064480 Benign
17424 P11464 (PSG1) E Q 87 rs1058661 Benign
17425 P11464 (PSG1) A V 101 rs707748 Benign
17426 P11464 (PSG1) I V 125 rs1058960 Benign
17427 P11464 (PSG1) V E 134 rs1058671 Benign
17428 P11464 (PSG1) E K 197 rs1058692 Benign
17429 P11464 (PSG1) T N 198 rs1058693 Benign
17430 P11465 (PSG2) V L 20 rs3887660 Benign
17431 P11465 (PSG2) T A 176 rs16976431 Benign
17432 P11465 (PSG2) Q L 179 rs1058086 Benign
17433 P11465 (PSG2) T R 335 rs1064937 Benign
17434 P11473 (VDR) G D 33 rs121909790 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17435 P11473 (VDR) H Q 35 - Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17436 P11473 (VDR) K E 45 - Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17437 P11473 (VDR) G D 46 rs121909797 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17438 P11473 (VDR) F I 47 - Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17439 P11473 (VDR) R Q 50 rs121909794 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17440 P11473 (VDR) R Q 73 rs121909791 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17441 P11473 (VDR) R Q 80 rs121909793 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17442 P11473 (VDR) L V 230 rs11574090 Benign
17443 P11473 (VDR) R L 274 rs121909796 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17444 P11473 (VDR) H Q 305 rs121909798 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17445 P11473 (VDR) I S 314 rs121909799 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17446 P11473 (VDR) V M 346 rs267607169 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17447 P11473 (VDR) S P 360 - Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17448 P11473 (VDR) T I 362 rs11574115 Benign
17449 P11473 (VDR) R C 391 rs121909800 Disease: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
17450 P11487 (FGF3) L P 6 rs121917706 Disease: Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]
17451 P11487 (FGF3) S P 156 rs121917703 Disease: Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]
17452 P11488 (GNAT1) G D 38 rs104893740 Disease: Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444]
17453 P11488 (GNAT1) D G 129 rs786205854 Disease: Night blindness, congenital stationary, 1G (CSNB1G) [MIM:616389]
17454 P11488 (GNAT1) Q E 200 rs786205853 Disease: Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444]
17455 P11498 (PC) H L 76 rs7104156 Benign
17456 P11498 (PC) V A 145 rs28940591 Disease: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
17457 P11498 (PC) R Q 156 rs119103241 Disease: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
17458 P11498 (PC) R W 270 rs1258494752 Disease: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
17459 P11498 (PC) Y C 304 - Disease: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
17460 P11498 (PC) R C 451 rs113994143 Disease: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
17461 P11498 (PC) R L 583 rs119103242 Disease: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
17462 P11498 (PC) A T 610 rs28940589 Disease: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
17463 P11498 (PC) R Q 631 rs113994145 Disease: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
17464 P11498 (PC) M I 743 rs28940590 Disease: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
17465 P11509 (CYP2A6) G R 5 rs28399434 Benign
17466 P11509 (CYP2A6) S N 29 rs28399435 Benign
17467 P11509 (CYP2A6) V L 110 rs72549435 Benign
17468 P11509 (CYP2A6) F L 118 rs28399440 Benign
17469 P11509 (CYP2A6) R L 128 rs4986891 Benign
17470 P11509 (CYP2A6) R Q 128 rs4986891 Benign
17471 P11509 (CYP2A6) S A 131 rs59552350 Benign
17472 P11509 (CYP2A6) L H 160 rs1801272 Benign
17473 P11509 (CYP2A6) K E 194 rs199916117 Benign
17474 P11509 (CYP2A6) R C 203 rs56256500 Benign
17475 P11509 (CYP2A6) R S 203 rs56256500 Benign
17476 P11509 (CYP2A6) S P 224 rs28399447 Benign
17477 P11509 (CYP2A6) V M 292 rs2644906 Benign
17478 P11509 (CYP2A6) T S 294 rs4997557 Benign
17479 P11509 (CYP2A6) V M 365 rs28399454 Benign
17480 P11509 (CYP2A6) Y F 392 rs1809810 Benign
17481 P11509 (CYP2A6) N D 418 rs28399463 Benign
17482 P11509 (CYP2A6) E D 419 rs8192730 Benign
17483 P11509 (CYP2A6) N Y 438 rs143731390 Benign
17484 P11509 (CYP2A6) I T 471 rs5031016 Benign
17485 P11509 (CYP2A6) K R 476 rs6413474 Benign
17486 P11509 (CYP2A6) G V 479 rs5031017 Benign
17487 P11509 (CYP2A6) R L 485 rs28399468 Benign
17488 P11511 (CYP19A1) W R 39 rs2236722 Benign
17489 P11511 (CYP19A1) R H 192 rs765057534 Disease: Aromatase deficiency (AROD) [MIM:613546]
17490 P11511 (CYP19A1) T M 201 rs28757184 Benign
17491 P11511 (CYP19A1) R C 264 rs700519 Benign
17492 P11511 (CYP19A1) R H 264 rs2304462 Benign
17493 P11511 (CYP19A1) R Q 365 rs80051519 Disease: Aromatase deficiency (AROD) [MIM:613546]
17494 P11511 (CYP19A1) R L 375 rs762631156 Benign
17495 P11511 (CYP19A1) R C 375 rs121434536 Disease: Aromatase deficiency (AROD) [MIM:613546]
17496 P11511 (CYP19A1) R C 435 rs121434534 Disease: Aromatase deficiency (AROD) [MIM:613546]
17497 P11511 (CYP19A1) C Y 437 rs78310315 Disease: Aromatase deficiency (AROD) [MIM:613546]
17498 P11532 (DMD) K N 18 - Disease: Cardiomyopat hy, dilated, X-linked 3B (CMD3B) [MIM:302045]
17499 P11532 (DMD) L R 54 - Disease: Duchenne muscular dystrophy (DMD) [MIM:310200]
17500 P11532 (DMD) Q P 133 rs1800256 Benign
17501 P11532 (DMD) A D 168 - Disease: Becker muscular dystrophy (BMD) [MIM:300376]
17502 P11532 (DMD) A P 171 - Disease: Becker muscular dystrophy (BMD) [MIM:300376]
17503 P11532 (DMD) Y N 231 - Disease: Becker muscular dystrophy (BMD) [MIM:300376]
17504 P11532 (DMD) T A 279 - Disease: Cardiomyopat hy, dilated, X-linked 3B (CMD3B) [MIM:302045]
17505 P11532 (DMD) Q H 365 rs1800266 Benign
17506 P11532 (DMD) T S 409 rs34155804 Benign
17507 P11532 (DMD) A V 573 rs5972599 Benign
17508 P11532 (DMD) L I 623 rs1800259 Benign
17509 P11532 (DMD) D G 645 - Disease: Duchenne muscular dystrophy (DMD) [MIM:310200]
17510 P11532 (DMD) S L 666 rs34563188 Benign
17511 P11532 (DMD) T S 715 rs16998350 Benign
17512 P11532 (DMD) K E 773 - Disease: Duchenne muscular dystrophy (DMD) [MIM:310200]
17513 P11532 (DMD) A G 784 rs1800260 Benign
17514 P11532 (DMD) D G 882 rs228406 Benign
17515 P11532 (DMD) T S 1136 rs3827462 Benign
17516 P11532 (DMD) V F 1197 rs1800262 Benign
17517 P11532 (DMD) T I 1245 rs1800269 Benign
17518 P11532 (DMD) A P 1278 rs1800270 Benign
17519 P11532 (DMD) K N 1377 rs1800263 Benign
17520 P11532 (DMD) F V 1388 rs28715870 Benign
17521 P11532 (DMD) Q L 1469 rs1057872 Benign
17522 P11532 (DMD) N K 1672 rs16990264 Benign
17523 P11532 (DMD) R H 1745 rs1801187 Benign
17524 P11532 (DMD) R S 1844 rs1801186 Benign
17525 P11532 (DMD) R C 2108 rs16990169 Benign
17526 P11532 (DMD) R W 2155 rs1800273 Benign
17527 P11532 (DMD) R W 2191 - Benign
17528 P11532 (DMD) N T 2299 - Benign
17529 P11532 (DMD) K Q 2366 rs1800275 Benign
17530 P11532 (DMD) E V 2910 rs41305353 Benign
17531 P11532 (DMD) N D 2912 rs1800278 Benign
17532 P11532 (DMD) H R 2921 rs1800279 Disease: Becker muscular dystrophy (BMD) [MIM:300376]
17533 P11532 (DMD) Q R 2937 rs1800280 Benign
17534 P11532 (DMD) F L 3228 - Disease: Cardiomyopat hy, dilated, X-linked 3B (CMD3B) [MIM:302045]
17535 P11532 (DMD) C F 3313 - Disease: Duchenne muscular dystrophy (DMD) [MIM:310200]
17536 P11532 (DMD) D H 3335 - Disease: Duchenne muscular dystrophy (DMD) [MIM:310200]
17537 P11532 (DMD) C Y 3340 - Disease: Duchenne muscular dystrophy (DMD) [MIM:310200]
17538 P11532 (DMD) A V 3421 - Disease: Becker muscular dystrophy (BMD) [MIM:300376]
17539 P11586 (MTHFD1) S F 49 rs370444838 Disease: Combined immunodefici ency and megaloblasti c anemia with or without hyperhomocys teinemia (CIMAH) [MIM:617780]
17540 P11586 (MTHFD1) L P 51 rs1555336810 Disease: Combined immunodefici ency and megaloblasti c anemia with or without hyperhomocys teinemia (CIMAH) [MIM:617780]
17541 P11586 (MTHFD1) R K 134 rs1950902 Benign
17542 P11586 (MTHFD1) P L 162 rs4902283 Benign
17543 P11586 (MTHFD1) R C 173 rs141210410 Disease: Combined immunodefici ency and megaloblasti c anemia with or without hyperhomocys teinemia (CIMAH) [MIM:617780]
17544 P11586 (MTHFD1) T I 269 rs1555337681 Disease: Combined immunodefici ency and megaloblasti c anemia with or without hyperhomocys teinemia (CIMAH) [MIM:617780]
17545 P11586 (MTHFD1) R H 293 rs34181110 Disease: Neural tube defects, folate- sensitive (NTDFS) [MIM:601634]
17546 P11586 (MTHFD1) R Q 653 rs2236225 Disease: Neural tube defects, folate- sensitive (NTDFS) [MIM:601634]
17547 P11586 (MTHFD1) T M 761 rs10813 Benign
17548 P11586 (MTHFD1) L F 769 rs17857382 Benign
17549 P11597 (CETP) A G 15 rs34065661 Benign
17550 P11597 (CETP) R W 154 rs34716057 Benign
17551 P11597 (CETP) L P 168 - Disease: Hyperalphali poproteinemi a 1 (HALP1) [MIM:143470]
17552 P11597 (CETP) R C 299 rs142459781 Disease: Hyperalphali poproteinemi a 1 (HALP1) [MIM:143470]
17553 P11597 (CETP) G S 331 rs5881 Benign
17554 P11597 (CETP) V M 385 rs34855278 Benign
17555 P11597 (CETP) A P 390 rs5880 Benign
17556 P11597 (CETP) V I 422 rs5882 Benign
17557 P11597 (CETP) V M 455 rs2228667 Benign
17558 P11597 (CETP) D G 459 rs2303790 Disease: Hyperalphali poproteinemi a 1 (HALP1) [MIM:143470]
17559 P11597 (CETP) R Q 468 rs1800777 Benign
17560 P11597 (CETP) V M 486 rs5887 Benign
17561 P11678 (EPX) V I 35 rs34553736 Benign
17562 P11678 (EPX) I M 40 rs11079339 Benign
17563 P11678 (EPX) Q H 122 rs11652709 Benign
17564 P11678 (EPX) A E 249 rs35896669 Benign
17565 P11678 (EPX) K R 276 rs35074452 Benign
17566 P11678 (EPX) R H 286 rs121434566 Disease: Eosinophil peroxidase deficiency (EPXD) [MIM:261500]
17567 P11678 (EPX) P L 292 rs33971258 Benign
17568 P11678 (EPX) R H 326 rs35832094 Benign
17569 P11678 (EPX) R L 326 - Benign
17570 P11678 (EPX) R P 326 rs35832094 Benign
17571 P11678 (EPX) P L 358 rs35135976 Benign
17572 P11678 (EPX) R H 364 rs35232062 Benign
17573 P11678 (EPX) K T 441 rs35750729 Benign
17574 P11678 (EPX) V M 458 rs34817773 Benign
17575 P11678 (EPX) H Q 496 rs33955150 Benign
17576 P11678 (EPX) N Y 572 rs2302311 Benign
17577 P11684 (SCGB1A1) R G 56 rs1802634 Benign
17578 P11684 (SCGB1A1) T A 68 rs1802632 Benign
17579 P11686 (SFTPC) E K 66 rs121917836 Disease: Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
17580 P11686 (SFTPC) I T 73 rs121917834 Disease: Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
17581 P11686 (SFTPC) A D 116 rs121918559 Disease: Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
17582 P11686 (SFTPC) N T 138 rs4715 Benign
17583 P11686 (SFTPC) R Q 167 rs34957318 Disease: Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
17584 P11686 (SFTPC) N S 186 rs1124 Benign
17585 P11686 (SFTPC) L Q 188 rs121917835 Disease: Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
17586 P11712 (CYP2C9) L I 19 rs67807361 Benign
17587 P11712 (CYP2C9) R H 125 rs72558189 Benign
17588 P11712 (CYP2C9) R L 125 rs72558189 Benign
17589 P11712 (CYP2C9) R C 144 rs1799853 Benign
17590 P11712 (CYP2C9) R H 150 rs7900194 Benign
17591 P11712 (CYP2C9) N H 204 - Benign
17592 P11712 (CYP2C9) H R 251 rs2256871 Benign
17593 P11712 (CYP2C9) E G 272 rs9332130 Benign
17594 P11712 (CYP2C9) R W 335 rs28371685 Benign
17595 P11712 (CYP2C9) Y C 358 rs1057909 Benign
17596 P11712 (CYP2C9) I L 359 rs1057910 Benign
17597 P11712 (CYP2C9) I T 359 rs56165452 Benign
17598 P11712 (CYP2C9) D E 360 rs28371686 Benign
17599 P11712 (CYP2C9) L P 413 rs28371687 Benign
17600 P11712 (CYP2C9) G D 417 - Benign
17601 P11712 (CYP2C9) I F 434 - Benign
17602 P11712 (CYP2C9) P S 489 rs9332239 Benign
17603 P11717 (IGF2R) R H 91 rs8191704 Benign
17604 P11717 (IGF2R) P L 203 rs8191746 Benign
17605 P11717 (IGF2R) G D 231 rs8191753 Benign
17606 P11717 (IGF2R) L V 252 rs8191754 Benign
17607 P11717 (IGF2R) D G 273 rs8191758 Benign
17608 P11717 (IGF2R) K Q 512 rs8191776 Benign
17609 P11717 (IGF2R) R Q 529 rs6413489 Benign
17610 P11717 (IGF2R) G S 604 rs8191797 Benign
17611 P11717 (IGF2R) A T 724 rs6413491 Benign
17612 P11717 (IGF2R) L V 817 rs8191808 Benign
17613 P11717 (IGF2R) G S 856 rs8191819 Benign
17614 P11717 (IGF2R) T M 1107 rs8191842 Benign
17615 P11717 (IGF2R) V I 1124 rs8191843 Benign
17616 P11717 (IGF2R) T S 1184 rs8191844 Benign
17617 P11717 (IGF2R) E A 1254 rs2230043 Benign
17618 P11717 (IGF2R) G E 1315 rs8191859 Benign
17619 P11717 (IGF2R) R H 1335 rs8191860 Benign
17620 P11717 (IGF2R) T S 1395 rs2230048 Benign
17621 P11717 (IGF2R) R G 1619 rs629849 Benign
17622 P11717 (IGF2R) Q R 1696 rs11552587 Benign
17623 P11717 (IGF2R) R H 1832 rs8191904 Benign
17624 P11717 (IGF2R) G D 1860 rs8191905 Benign
17625 P11717 (IGF2R) I M 1908 rs8191908 Benign
17626 P11717 (IGF2R) N S 2020 rs1805075 Benign
17627 P11717 (IGF2R) A V 2459 rs8191955 Benign
17628 P11766 (ADH5) L S 163 rs28730623 Benign
17629 P11766 (ADH5) V I 309 rs28730628 Benign
17630 P11766 (ADH5) D E 353 rs16996593 Benign
17631 P11801 (PSKH1) N S 301 rs35552721 Benign
17632 P11802 (CDK4) R C 24 rs11547328 Disease: Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048]
17633 P11802 (CDK4) R H 24 rs104894340 Disease: Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048]
17634 P11802 (CDK4) N S 41 rs144890720 Disease: Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048]
17635 P11802 (CDK4) R Q 82 rs3211612 Benign
17636 P11802 (CDK4) R H 122 rs34386532 Benign
17637 P11844 (CRYGA) P L 148 rs763049410 Benign
17638 P12004 (PCNA) S I 228 rs369958038 Disease: Ataxia-telan giectasia- like disorder 2 (ATLD2) [MIM:615919]
17639 P12018 (VPREB1) D N 76 rs1320 Benign
17640 P12018 (VPREB1) S L 122 rs11089979 Benign
17641 P12018 (VPREB1) E K 132 rs5995720 Benign
17642 P12034 (FGF5) M V 54 rs33950145 Benign
17643 P12034 (FGF5) Y H 174 rs587777581 Disease: Trichomegaly (TCMGLY) [MIM:190330]
17644 P12035 (KRT3) G A 44 rs28721426 Benign
17645 P12035 (KRT3) R G 375 rs3887954 Benign
17646 P12035 (KRT3) R P 503 rs60410063 Disease: Corneal dystrophy, Meesmann 2 (MECD2) [MIM:618767]
17647 P12035 (KRT3) E K 509 rs57872071 Disease: Corneal dystrophy, Meesmann 2 (MECD2) [MIM:618767]
17648 P12036 (NEFH) P S 575 rs6006164 Benign
17649 P12036 (NEFH) P L 615 rs5763269 Benign
17650 P12036 (NEFH) E A 811 rs165602 Benign
17651 P12081 (HARS1) A E 5 rs78741041 Benign
17652 P12081 (HARS1) T I 132 rs143473232 Disease: Charcot- Marie-Tooth disease 2W (CMT2W) [MIM:616625]
17653 P12081 (HARS1) P H 134 rs863225122 Disease: Charcot- Marie-Tooth disease 2W (CMT2W) [MIM:616625]
17654 P12081 (HARS1) R Q 137 rs191391414 Disease: Charcot- Marie-Tooth disease 2W (CMT2W) [MIM:616625]
17655 P12081 (HARS1) D E 175 rs863225123 Disease: Charcot- Marie-Tooth disease 2W (CMT2W) [MIM:616625]
17656 P12081 (HARS1) G D 205 rs147288996 Benign
17657 P12081 (HARS1) Y C 330 - Disease: Charcot- Marie-Tooth disease 2W (CMT2W) [MIM:616625]
17658 P12081 (HARS1) S N 356 - Disease: Charcot- Marie-Tooth disease 2W (CMT2W) [MIM:616625]
17659 P12081 (HARS1) D Y 364 rs863225124 Disease: Charcot- Marie-Tooth disease 2W (CMT2W) [MIM:616625]
17660 P12081 (HARS1) K R 376 rs139447495 Benign
17661 P12081 (HARS1) A V 399 rs34732372 Benign
17662 P12081 (HARS1) Y S 454 rs387906639 Disease: Usher syndrome 3B (USH3B) [MIM:614504]
17663 P12104 (FABP2) A T 55 rs1799883 Benign
17664 P12107 (COL11A1) W G 8 rs12025888 Benign
17665 P12107 (COL11A1) D E 46 rs11164663 Benign
17666 P12107 (COL11A1) G S 559 rs12143815 Benign
17667 P12107 (COL11A1) G V 565 - Disease: Stickler syndrome 2 (STL2) [MIM:604841]
17668 P12107 (COL11A1) G V 625 rs121912943 Disease: Stickler syndrome 2 (STL2) [MIM:604841]
17669 P12107 (COL11A1) G R 676 rs749663226 Disease: Stickler syndrome 2 (STL2) [MIM:604841]
17670 P12107 (COL11A1) G R 796 - Disease: Fibrochondro genesis 1 (FBCG1) [MIM:228520]
17671 P12107 (COL11A1) G R 1027 - Disease: Stickler syndrome 2 (STL2) [MIM:604841]
17672 P12107 (COL11A1) G R 1042 - Disease: Fibrochondro genesis 1 (FBCG1) [MIM:228520]
17673 P12107 (COL11A1) P L 1323 rs3753841 Benign
17674 P12107 (COL11A1) G D 1513 rs1553193913 Disease: Stickler syndrome 2 (STL2) [MIM:604841]
17675 P12107 (COL11A1) G V 1516 rs1553193910 Disease: Stickler syndrome 2 (STL2) [MIM:604841]
17676 P12107 (COL11A1) S P 1535 rs1676486 Benign
17677 P12107 (COL11A1) L F 1805 rs1975916 Benign
17678 P12109 (COL6A1) D A 43 rs786205555 Disease: -
17679 P12109 (COL6A1) S N 116 rs11553519 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17680 P12109 (COL6A1) K R 121 rs121912936 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17681 P12109 (COL6A1) G D 272 rs1064793840 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17682 P12109 (COL6A1) P L 274 rs201093313 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17683 P12109 (COL6A1) G R 275 - Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17684 P12109 (COL6A1) G R 281 rs267606746 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17685 P12109 (COL6A1) G R 284 rs121912938 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17686 P12109 (COL6A1) G R 290 rs121912939 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17687 P12109 (COL6A1) G V 305 - Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17688 P12109 (COL6A1) G S 332 rs11701912 Benign
17689 P12109 (COL6A1) G D 341 rs121912935 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17690 P12109 (COL6A1) G V 341 rs121912935 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17691 P12109 (COL6A1) R Q 439 rs35059000 Benign
17692 P12109 (COL6A1) K T 571 rs751040647 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17693 P12109 (COL6A1) R H 850 rs1053312 Benign
17694 P12109 (COL6A1) T M 881 rs150432347 Benign
17695 P12109 (COL6A1) S L 890 rs13051496 Benign
17696 P12110 (COL6A2) E K 106 rs141703710 Benign
17697 P12110 (COL6A2) D N 227 rs35881321 Benign
17698 P12110 (COL6A2) G S 271 rs121912940 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17699 P12110 (COL6A2) G R 283 rs267606748 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17700 P12110 (COL6A2) R C 377 rs144801620 Benign
17701 P12110 (COL6A2) S N 399 rs2839110 Benign
17702 P12110 (COL6A2) D N 446 rs535007570 Benign
17703 P12110 (COL6A2) R Q 489 rs61735828 Benign
17704 P12110 (COL6A2) R H 498 rs267606749 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17705 P12110 (COL6A2) P S 518 rs141166141 Benign
17706 P12110 (COL6A2) G R 531 - Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17707 P12110 (COL6A2) D N 621 rs267606750 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17708 P12110 (COL6A2) R H 680 rs1042917 Benign
17709 P12110 (COL6A2) G S 700 rs794727418 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17710 P12110 (COL6A2) R C 724 rs150098077 Benign
17711 P12110 (COL6A2) V M 728 rs200585528 Benign
17712 P12110 (COL6A2) C R 777 rs267606747 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17713 P12110 (COL6A2) R H 784 rs75120695 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17714 P12110 (COL6A2) V G 804 rs779847082 Benign
17715 P12110 (COL6A2) L P 837 rs1255514828 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17716 P12110 (COL6A2) R Q 843 rs201736323 Benign
17717 P12110 (COL6A2) R Q 853 rs144830948 Benign
17718 P12110 (COL6A2) R S 876 rs387906608 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17719 P12110 (COL6A2) S R 895 rs141233891 Benign
17720 P12110 (COL6A2) P L 932 rs117725825 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17721 P12110 (COL6A2) G R 935 rs35548026 Benign
17722 P12110 (COL6A2) F C 1010 rs1051148162 Benign
17723 P12110 (COL6A2) I L 1015 rs11910483 Benign
17724 P12111 (COL6A3) L V 411 rs113716915 Benign
17725 P12111 (COL6A3) D H 491 rs112010940 Benign
17726 P12111 (COL6A3) T S 492 rs113897824 Benign
17727 P12111 (COL6A3) T M 538 rs34741387 Benign
17728 P12111 (COL6A3) R H 659 rs36092870 Benign
17729 P12111 (COL6A3) A T 807 rs113155945 Benign
17730 P12111 (COL6A3) A S 830 rs77181645 Benign
17731 P12111 (COL6A3) V E 886 rs9630964 Benign
17732 P12111 (COL6A3) K E 1014 rs114284669 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17733 P12111 (COL6A3) K Q 1088 rs11896521 Benign
17734 P12111 (COL6A3) E K 1386 rs146092501 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17735 P12111 (COL6A3) R Q 1395 rs80272723 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17736 P12111 (COL6A3) N D 1467 rs138049094 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17737 P12111 (COL6A3) R Q 1576 rs61729839 Benign
17738 P12111 (COL6A3) R Q 1632 rs111231885 Benign
17739 P12111 (COL6A3) D N 1674 rs778940391 Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
17740 P12111 (COL6A3) G E 1679 rs121434553 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17741 P12111 (COL6A3) P S 1687 rs35273032 Benign
17742 P12111 (COL6A3) L R 1726 rs121434555 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17743 P12111 (COL6A3) V M 1985 rs200478135 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17744 P12111 (COL6A3) G D 2047 - Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17745 P12111 (COL6A3) G R 2056 - Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17746 P12111 (COL6A3) G D 2080 rs794727188 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17747 P12111 (COL6A3) P L 2218 rs36117715 Benign
17748 P12111 (COL6A3) D V 2431 - Benign
17749 P12111 (COL6A3) E K 2453 rs886044364 Benign
17750 P12111 (COL6A3) R H 2501 rs541928674 Disease: Dystonia 27 (DYT27) [MIM:616411]
17751 P12111 (COL6A3) A T 2554 rs786205870 Disease: Dystonia 27 (DYT27) [MIM:616411]
17752 P12111 (COL6A3) N T 2805 rs35848091 Benign
17753 P12111 (COL6A3) D H 2831 rs36104025 Benign
17754 P12111 (COL6A3) M T 2927 rs6728818 Benign
17755 P12111 (COL6A3) A V 2941 rs11903206 Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]
17756 P12111 (COL6A3) M V 2988 rs11690358 Benign
17757 P12111 (COL6A3) A P 3012 rs2270669 Benign
17758 P12111 (COL6A3) R H 3043 rs552651651 Disease: Dystonia 27 (DYT27) [MIM:616411]
17759 P12111 (COL6A3) T I 3069 rs1131296 Benign
17760 P12111 (COL6A3) P R 3082 rs182976977 Disease: Dystonia 27 (DYT27) [MIM:616411]
17761 P12235 (SLC25A4) R H 80 rs886041081 Disease: Mitochondria l DNA depletion syndrome 12A, cardiomyopat hic type (MTDPS12A) [MIM:617184]
17762 P12235 (SLC25A4) A D 90 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
17763 P12235 (SLC25A4) L P 98 rs104893876 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
17764 P12235 (SLC25A4) D G 104 rs28999114 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
17765 P12235 (SLC25A4) A P 114 rs104893873 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
17766 P12235 (SLC25A4) A D 123 rs121912683 Disease: Mitochondria l DNA depletion syndrome 12B, cardiomyopat hic type (MTDPS12B) [MIM:615418]
17767 P12235 (SLC25A4) R G 235 rs886041082 Disease: Mitochondria l DNA depletion syndrome 12A, cardiomyopat hic type (MTDPS12A) [MIM:617184]
17768 P12235 (SLC25A4) R P 236 rs770816416 Disease: Mitochondria l DNA depletion syndrome 12B, cardiomyopat hic type (MTDPS12B) [MIM:615418]
17769 P12235 (SLC25A4) V M 289 rs104893874 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
17770 P12236 (SLC25A6) S F 242 - Benign
17771 P12259 (F5) G S 15 rs9332485 Benign
17772 P12259 (F5) D H 107 rs6019 Benign
17773 P12259 (F5) R G 334 rs118203905 Benign
17774 P12259 (F5) R T 334 rs118203906 Disease: Thrombophili a due to activated protein C resistance (THPH2) [MIM:188055]
17775 P12259 (F5) I T 387 rs118203911 Disease: Thrombophili a due to activated protein C resistance (THPH2) [MIM:188055]
17776 P12259 (F5) M T 413 rs6033 Benign
17777 P12259 (F5) R K 513 rs6020 Benign
17778 P12259 (F5) R Q 534 rs6025 Disease: Thrombophili a due to activated protein C resistance (THPH2) [MIM:188055]
17779 P12259 (F5) C R 613 rs1453479152 Disease: Thrombophili a due to activated protein C resistance (THPH2) [MIM:188055]
17780 P12259 (F5) S R 781 rs13306350 Benign
17781 P12259 (F5) P S 809 rs6031 Benign
17782 P12259 (F5) N T 817 rs6018 Benign
17783 P12259 (F5) K R 858 rs4524 Benign
17784 P12259 (F5) H R 865 rs4525 Benign
17785 P12259 (F5) T S 915 rs9332695 Benign
17786 P12259 (F5) K E 925 rs6032 Benign
17787 P12259 (F5) N S 969 rs9332604 Benign
17788 P12259 (F5) R L 980 rs9332605 Benign
17789 P12259 (F5) H Q 1146 rs6005 Benign
17790 P12259 (F5) L I 1285 rs1046712 Benign
17791 P12259 (F5) H R 1327 rs1800595 Benign
17792 P12259 (F5) L F 1397 rs13306334 Benign
17793 P12259 (F5) P S 1404 rs9332608 Benign
17794 P12259 (F5) E A 1530 rs6007 Benign
17795 P12259 (F5) T S 1685 rs6011 Benign
17796 P12259 (F5) Y C 1730 rs118203907 Disease: Factor V deficiency (FA5D) [MIM:227400]
17797 P12259 (F5) L V 1749 rs6034 Benign
17798 P12259 (F5) M V 1764 rs6030 Benign
17799 P12259 (F5) M I 1820 rs6026 Benign
17800 P12259 (F5) R C 2102 rs118203910 Disease: Factor V deficiency (FA5D) [MIM:227400]
17801 P12259 (F5) R H 2102 - Disease: Thrombophili a due to activated protein C resistance (THPH2) [MIM:188055]
17802 P12259 (F5) M T 2148 rs9332701 Benign
17803 P12259 (F5) K R 2185 rs6679078 Benign
17804 P12259 (F5) D G 2222 rs6027 Benign
17805 P12268 (IMPDH2) L F 263 rs121434586 Benign
17806 P12270 (TPR) S N 960 rs3753565 Benign
17807 P12270 (TPR) V G 1428 rs35550453 Benign
17808 P12270 (TPR) T A 1707 rs35766045 Benign
17809 P12271 (RLBP1) R Q 151 rs137853290 Disease: Retinitis punctata albescens (RPA) [MIM:136880]
17810 P12271 (RLBP1) M K 226 rs137853291 Disease: Retinitis punctata albescens (RPA) [MIM:136880]
17811 P12271 (RLBP1) R W 234 rs28933990 Disease: Bothnia retinal dystrophy (BRD) [MIM:607475]
17812 P12272 (PTHLH) L P 44 rs267606986 Disease: Brachydactyl y E2 (BDE2) [MIM:613382]
17813 P12272 (PTHLH) L P 60 rs267606985 Disease: Brachydactyl y E2 (BDE2) [MIM:613382]
17814 P12277 (CKB) K R 177 rs36002620 Benign
17815 P12277 (CKB) S L 309 rs35156510 Benign
17816 P12277 (CKB) L F 360 rs12505 Benign
17817 P12314 (FCGR1A) L P 105 rs619322 Benign
17818 P12318 (FCGR2A) Q R 63 rs9427398 Benign
17819 P12318 (FCGR2A) M V 140 rs4986941 Benign
17820 P12318 (FCGR2A) H R 167 rs1801274 Benign
17821 P12318 (FCGR2A) I V 218 rs17851834 Benign
17822 P12319 (FCER1A) K R 84 rs2298804 Benign
17823 P12319 (FCER1A) S N 101 rs2298805 Benign
17824 P12429 (ANXA3) S N 19 rs5951 Benign
17825 P12429 (ANXA3) I N 219 rs5948 Benign
17826 P12429 (ANXA3) P L 251 rs5949 Benign
17827 P12429 (ANXA3) F S 291 rs5941 Benign
17828 P12524 (MYCL) T S 362 rs3134614 Benign
17829 P12544 (GZMA) M T 121 rs3104233 Benign
17830 P12643 (BMP2) S A 37 rs2273073 Benign
17831 P12643 (BMP2) P S 77 rs36105541 Benign
17832 P12643 (BMP2) A T 106 rs2273074 Benign
17833 P12643 (BMP2) L S 161 rs34183594 Benign
17834 P12643 (BMP2) R S 190 rs235768 Benign
17835 P12643 (BMP2) D G 387 rs11545591 Benign
17836 P12644 (BMP4) S C 91 rs121912767 Disease: Non- syndromic orofacial cleft 11 (OFC11) [MIM:600625]
17837 P12644 (BMP4) E G 93 rs121912765 Disease: Microphthalm ia, syndromic, 6 (MCOPS6) [MIM:607932]
17838 P12644 (BMP4) T A 102 rs202159001 Benign
17839 P12644 (BMP4) T S 116 rs750427266 Benign
17840 P12644 (BMP4) N K 150 rs767216159 Benign
17841 P12644 (BMP4) V A 152 rs17563 Benign
17842 P12644 (BMP4) R Q 162 rs770493925 Disease: Non- syndromic orofacial cleft 11 (OFC11) [MIM:600625]
17843 P12644 (BMP4) G A 168 - Benign
17844 P12644 (BMP4) T A 225 rs144556455 Benign
17845 P12644 (BMP4) R W 226 rs140590144 Benign
17846 P12644 (BMP4) R H 287 rs121912768 Disease: Non- syndromic orofacial cleft 11 (OFC11) [MIM:600625]
17847 P12644 (BMP4) A V 346 rs121912766 Disease: Non- syndromic orofacial cleft 11 (OFC11) [MIM:600625]
17848 P12644 (BMP4) S T 367 rs1320581580 Benign
17849 P12645 (BMP3) Q K 176 rs34213771 Benign
17850 P12645 (BMP3) Q L 176 rs34847147 Benign
17851 P12645 (BMP3) R Q 192 rs3733549 Benign
17852 P12645 (BMP3) L F 205 rs6831040 Benign
17853 P12645 (BMP3) T M 222 rs34505126 Benign
17854 P12694 (BCKDHA) P H 39 rs11549936 Benign
17855 P12694 (BCKDHA) T M 151 rs34442879 Benign
17856 P12694 (BCKDHA) R W 159 rs769688327 Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17857 P12694 (BCKDHA) Q K 190 - Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17858 P12694 (BCKDHA) T M 211 rs398123503 Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17859 P12694 (BCKDHA) A V 220 rs375785084 Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17860 P12694 (BCKDHA) A T 253 rs199599175 Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17861 P12694 (BCKDHA) G R 290 rs137852871 Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17862 P12694 (BCKDHA) I T 326 - Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17863 P12694 (BCKDHA) R C 346 rs182923857 Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17864 P12694 (BCKDHA) F C 409 rs137852872 Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17865 P12694 (BCKDHA) Y C 413 - Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17866 P12694 (BCKDHA) Y N 438 rs137852870 Disease: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
17867 P12724 (RNASE3) R C 72 rs151169198 Benign
17868 P12724 (RNASE3) T R 124 rs2073342 Benign
17869 P12724 (RNASE3) G R 130 rs12147890 Benign
17870 P12755 (SKI) L R 21 rs869312902 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17871 P12755 (SKI) S T 28 - Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17872 P12755 (SKI) S L 31 - Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17873 P12755 (SKI) L P 32 - Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17874 P12755 (SKI) L V 32 rs387907304 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17875 P12755 (SKI) G A 34 - Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17876 P12755 (SKI) G C 34 rs387907306 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17877 P12755 (SKI) G D 34 rs387907305 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17878 P12755 (SKI) G S 34 rs387907306 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17879 P12755 (SKI) G V 34 rs387907305 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17880 P12755 (SKI) P Q 35 rs397514589 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17881 P12755 (SKI) P S 35 rs397514590 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17882 P12755 (SKI) G E 116 rs387907303 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17883 P12755 (SKI) G R 117 rs869312901 Disease: Shprintzen- Goldberg craniosynost osis syndrome (SGS) [MIM:182212]
17884 P12757 (SKIL) A V 38 rs3772173 Benign
17885 P12814 (ACTN1) Q K 32 rs387907346 Disease: Bleeding disorder, platelet- type 15 (BDPLT15) [MIM:615193]
17886 P12814 (ACTN1) R Q 46 rs387907348 Disease: Bleeding disorder, platelet- type 15 (BDPLT15) [MIM:615193]
17887 P12814 (ACTN1) V I 105 rs387907345 Disease: Bleeding disorder, platelet- type 15 (BDPLT15) [MIM:615193]
17888 P12814 (ACTN1) R W 197 rs904887313 Benign
17889 P12814 (ACTN1) E K 225 rs387907350 Disease: Bleeding disorder, platelet- type 15 (BDPLT15) [MIM:615193]
17890 P12814 (ACTN1) N T 707 rs7157661 Benign
17891 P12814 (ACTN1) R W 738 rs387907349 Disease: Bleeding disorder, platelet- type 15 (BDPLT15) [MIM:615193]
17892 P12814 (ACTN1) R Q 752 rs387907347 Disease: Bleeding disorder, platelet- type 15 (BDPLT15) [MIM:615193]
17893 P12814 (ACTN1) T S 868 rs11557769 Benign
17894 P12821 (ACE) A T 154 rs13306087 Benign
17895 P12821 (ACE) A T 183 rs12720754 Benign
17896 P12821 (ACE) Y C 244 rs3730025 Benign
17897 P12821 (ACE) R C 260 rs4302 Benign
17898 P12821 (ACE) R L 260 rs4303 Benign
17899 P12821 (ACE) A S 261 rs4303 Benign
17900 P12821 (ACE) D N 295 rs989500910 Benign
17901 P12821 (ACE) P L 351 rs2229839 Benign
17902 P12821 (ACE) G R 354 rs56394458 Benign
17903 P12821 (ACE) R Q 379 rs13306085 Benign
17904 P12821 (ACE) V A 524 rs12720746 Benign
17905 P12821 (ACE) R W 561 rs4314 Benign
17906 P12821 (ACE) D G 592 rs12709426 Benign
17907 P12821 (ACE) M T 828 rs13306091 Benign
17908 P12821 (ACE) T M 916 rs3730043 Benign
17909 P12821 (ACE) I T 1018 rs4976 Benign
17910 P12821 (ACE) F V 1051 rs4977 Benign
17911 P12821 (ACE) T M 1187 rs12709442 Benign
17912 P12821 (ACE) P L 1228 rs121912703 Benign
17913 P12821 (ACE) R Q 1279 rs4980 Benign
17914 P12821 (ACE) R S 1286 rs4364 Benign
17915 P12821 (ACE) Q P 1296 rs4981 Benign
17916 P12829 (MYL4) E K 11 rs886037778 Disease: Atrial fibrillation , familial, 18 (ATFB18) [MIM:617280]
17917 P12829 (MYL4) N Y 186 rs16941677 Benign
17918 P12830 (CDH1) D N 72 rs35606263 Benign
17919 P12830 (CDH1) D G 244 rs1064794231 Disease: Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
17920 P12830 (CDH1) D Y 254 rs1555515445 Disease: Blepharochei lodontic syndrome 1 (BCDS1) [MIM:119580]
17921 P12830 (CDH1) D V 257 - Disease: Blepharochei lodontic syndrome 1 (BCDS1) [MIM:119580]
17922 P12830 (CDH1) S A 270 rs587776399 Benign
17923 P12830 (CDH1) E D 336 rs267606712 Benign
17924 P12830 (CDH1) T A 340 rs116093741 Benign
17925 P12830 (CDH1) I N 393 rs34466743 Benign
17926 P12830 (CDH1) T I 470 rs370864592 Benign
17927 P12830 (CDH1) V I 473 rs36087757 Benign
17928 P12830 (CDH1) L P 478 rs35520415 Benign
17929 P12830 (CDH1) V A 487 - Disease: Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
17930 P12830 (CDH1) A T 617 rs33935154 Benign
17931 P12830 (CDH1) L V 630 rs2276331 Benign
17932 P12830 (CDH1) A V 634 rs121964878 Benign
17933 P12830 (CDH1) C R 695 rs9282655 Benign
17934 P12830 (CDH1) L V 711 rs121964871 Benign
17935 P12830 (CDH1) V M 832 rs35572355 Disease: Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
17936 P12830 (CDH1) E K 880 rs34507583 Benign
17937 P12838 (DEFA4) A P 8 rs28661751 Benign
17938 P12838 (DEFA4) A V 8 rs28488529 Benign
17939 P12872 (MLN) V A 15 rs2281820 Benign
17940 P12882 (MYH1) G S 640 rs150346984 Benign
17941 P12882 (MYH1) R C 1341 rs3744564 Benign
17942 P12882 (MYH1) Q H 1539 rs3764850 Benign
17943 P12882 (MYH1) R C 1716 rs1077841 Benign
17944 P12883 (MYH7) D A 3 rs3729993 Benign
17945 P12883 (MYH7) A V 26 rs186964570 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17946 P12883 (MYH7) V M 39 rs376160714 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17947 P12883 (MYH7) V I 59 rs771132107 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17948 P12883 (MYH7) D E 107 rs2754166 Benign
17949 P12883 (MYH7) Y H 115 rs397516183 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17950 P12883 (MYH7) T I 124 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17951 P12883 (MYH7) R G 143 rs727503278 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17952 P12883 (MYH7) R Q 143 rs397516209 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17953 P12883 (MYH7) R W 143 rs727503278 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17954 P12883 (MYH7) K N 146 rs397516212 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17955 P12883 (MYH7) S I 148 rs772691929 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17956 P12883 (MYH7) Y C 162 rs1057517771 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17957 P12883 (MYH7) V L 186 rs786205906 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17958 P12883 (MYH7) N K 187 rs1057517772 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17959 P12883 (MYH7) T N 188 rs730880844 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17960 P12883 (MYH7) R T 190 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17961 P12883 (MYH7) A T 196 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17962 P12883 (MYH7) I T 201 rs397516258 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
17963 P12883 (MYH7) R H 204 rs397516260 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17964 P12883 (MYH7) K Q 207 rs727504273 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17965 P12883 (MYH7) P L 211 rs727503277 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17966 P12883 (MYH7) Q K 222 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17967 P12883 (MYH7) A T 223 rs121913645 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
17968 P12883 (MYH7) L V 227 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17969 P12883 (MYH7) N S 232 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17970 P12883 (MYH7) R H 243 rs267606910 Disease: Left ventricular non- compaction 5 (LVNC5) [MIM:613426]
17971 P12883 (MYH7) F L 244 rs730880849 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17972 P12883 (MYH7) R Q 249 rs3218713 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17973 P12883 (MYH7) F L 252 - Disease: Left ventricular non- compaction 5 (LVNC5) [MIM:613426]
17974 P12883 (MYH7) G E 256 rs121913633 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17975 P12883 (MYH7) I M 263 rs730880855 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17976 P12883 (MYH7) I T 263 rs397516269 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17977 P12883 (MYH7) Y D 283 rs397515482 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
17978 P12883 (MYH7) F C 312 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17979 P12883 (MYH7) V M 320 rs376897125 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17980 P12883 (MYH7) E G 328 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17981 P12883 (MYH7) M T 349 rs121913640 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17982 P12883 (MYH7) Y N 350 - Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
17983 P12883 (MYH7) K E 351 rs730880864 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17984 P12883 (MYH7) A T 355 rs397516088 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17985 P12883 (MYH7) K N 383 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17986 P12883 (MYH7) A V 385 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17987 P12883 (MYH7) L P 390 - Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
17988 P12883 (MYH7) L V 390 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17989 P12883 (MYH7) R L 403 rs121913624 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17990 P12883 (MYH7) R Q 403 rs121913624 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17991 P12883 (MYH7) R W 403 rs3218714 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17992 P12883 (MYH7) V L 404 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17993 P12883 (MYH7) V M 404 rs730880867 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17994 P12883 (MYH7) V M 406 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17995 P12883 (MYH7) G V 407 rs397516095 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17996 P12883 (MYH7) V I 411 rs730880868 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17997 P12883 (MYH7) T N 412 - Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
17998 P12883 (MYH7) G R 425 rs397516097 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
17999 P12883 (MYH7) A V 428 rs727503266 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18000 P12883 (MYH7) A E 430 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18001 P12883 (MYH7) M T 435 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18002 P12883 (MYH7) V M 440 rs397516098 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18003 P12883 (MYH7) T M 441 rs121913653 Disease: Myopathy, distal, 1 (MPD1) [MIM:160500]
18004 P12883 (MYH7) I T 443 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18005 P12883 (MYH7) K E 450 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18006 P12883 (MYH7) K T 450 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18007 P12883 (MYH7) R C 453 rs121913625 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18008 P12883 (MYH7) R H 453 rs397516101 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18009 P12883 (MYH7) R S 453 rs121913625 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18010 P12883 (MYH7) E Q 466 rs4981473 Benign
18011 P12883 (MYH7) N S 479 rs727504236 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18012 P12883 (MYH7) E K 483 rs121913651 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18013 P12883 (MYH7) E D 497 rs267606911 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18014 P12883 (MYH7) E K 499 rs3218715 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18015 P12883 (MYH7) E A 500 rs727504286 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18016 P12883 (MYH7) Y C 501 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18017 P12883 (MYH7) I F 511 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18018 P12883 (MYH7) I T 511 rs397516110 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18019 P12883 (MYH7) F C 513 rs121913636 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18020 P12883 (MYH7) M R 515 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18021 P12883 (MYH7) M V 515 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18022 P12883 (MYH7) L M 517 rs727504237 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18023 P12883 (MYH7) S P 532 rs121913642 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18024 P12883 (MYH7) A V 550 - Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18025 P12883 (MYH7) G R 571 rs730880879 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18026 P12883 (MYH7) H R 576 rs727504238 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18027 P12883 (MYH7) G R 584 rs121913626 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18028 P12883 (MYH7) G S 584 rs121913626 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18029 P12883 (MYH7) D V 587 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18030 P12883 (MYH7) Q R 595 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18031 P12883 (MYH7) L V 601 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18032 P12883 (MYH7) N S 602 rs730880880 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18033 P12883 (MYH7) V M 606 rs121913627 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18034 P12883 (MYH7) K N 615 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18035 P12883 (MYH7) K Q 615 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18036 P12883 (MYH7) S L 642 rs121913646 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18037 P12883 (MYH7) M I 659 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18038 P12883 (MYH7) R C 663 rs397516127 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18039 P12883 (MYH7) R H 663 rs371898076 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18040 P12883 (MYH7) R S 663 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18041 P12883 (MYH7) R C 671 rs727503263 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18042 P12883 (MYH7) R C 694 rs727504240 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18043 P12883 (MYH7) R H 694 rs886039030 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18044 P12883 (MYH7) N S 696 rs730880732 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18045 P12883 (MYH7) V A 698 rs397516130 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18046 P12883 (MYH7) R L 712 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18047 P12883 (MYH7) G R 716 rs121913638 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18048 P12883 (MYH7) R Q 719 rs121913641 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18049 P12883 (MYH7) R W 719 rs121913637 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18050 P12883 (MYH7) R C 723 rs121913630 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18051 P12883 (MYH7) R G 723 rs121913630 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18052 P12883 (MYH7) A V 728 rs121913644 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18053 P12883 (MYH7) P L 731 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18054 P12883 (MYH7) G E 733 rs727504241 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18055 P12883 (MYH7) Q E 734 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18056 P12883 (MYH7) Q P 734 rs863225097 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18057 P12883 (MYH7) I M 736 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18058 P12883 (MYH7) I T 736 rs727503261 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18059 P12883 (MYH7) G R 741 rs121913632 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18060 P12883 (MYH7) G W 741 rs121913632 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18061 P12883 (MYH7) A E 742 rs786205907 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18062 P12883 (MYH7) E D 743 rs397516139 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18063 P12883 (MYH7) V G 763 rs730880735 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18064 P12883 (MYH7) V M 763 rs727504253 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18065 P12883 (MYH7) F L 764 rs121913643 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18066 P12883 (MYH7) G R 768 rs727503260 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18067 P12883 (MYH7) E V 774 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18068 P12883 (MYH7) D E 778 rs2069544 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18069 P12883 (MYH7) D G 778 rs121913634 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18070 P12883 (MYH7) D V 778 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18071 P12883 (MYH7) S N 782 rs886039185 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18072 P12883 (MYH7) R C 787 rs145677314 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18073 P12883 (MYH7) R H 787 rs376754645 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18074 P12883 (MYH7) L F 796 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18075 P12883 (MYH7) A T 797 rs3218716 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18076 P12883 (MYH7) M L 822 rs730880742 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18077 P12883 (MYH7) M T 822 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18078 P12883 (MYH7) G E 823 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18079 P12883 (MYH7) V I 824 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18080 P12883 (MYH7) E Q 846 rs730880748 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18081 P12883 (MYH7) M T 852 rs397516157 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18082 P12883 (MYH7) R C 858 rs2754158 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18083 P12883 (MYH7) R H 858 rs2856897 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18084 P12883 (MYH7) R C 869 rs730880750 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18085 P12883 (MYH7) R G 869 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18086 P12883 (MYH7) R H 869 rs202141173 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18087 P12883 (MYH7) R C 870 rs36211715 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18088 P12883 (MYH7) R H 870 rs36211715 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18089 P12883 (MYH7) M K 877 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18090 P12883 (MYH7) Q E 882 rs397516160 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18091 P12883 (MYH7) E G 894 rs397516161 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18092 P12883 (MYH7) A G 901 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18093 P12883 (MYH7) C F 905 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18094 P12883 (MYH7) D G 906 rs267606908 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18095 P12883 (MYH7) L V 908 rs121913631 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18096 P12883 (MYH7) E K 921 rs730880759 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18097 P12883 (MYH7) E K 924 rs121913628 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18098 P12883 (MYH7) E Q 924 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18099 P12883 (MYH7) E K 927 rs397516170 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18100 P12883 (MYH7) D N 928 rs727503252 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18101 P12883 (MYH7) E K 930 rs397516171 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18102 P12883 (MYH7) E K 931 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18103 P12883 (MYH7) E K 935 rs121913639 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18104 P12883 (MYH7) E K 949 rs121913629 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18105 P12883 (MYH7) D H 953 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18106 P12883 (MYH7) T N 1019 rs755392435 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18107 P12883 (MYH7) V A 1044 - Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18108 P12883 (MYH7) G D 1057 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18109 P12883 (MYH7) G S 1057 rs397516179 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18110 P12883 (MYH7) A S 1124 rs1041961 Benign
18111 P12883 (MYH7) L R 1135 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18112 P12883 (MYH7) R S 1193 rs886039090 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18113 P12883 (MYH7) E Q 1218 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18114 P12883 (MYH7) A E 1263 rs758889483 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18115 P12883 (MYH7) L V 1297 - Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18116 P12883 (MYH7) N K 1327 rs141764279 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18117 P12883 (MYH7) E K 1356 rs727503246 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18118 P12883 (MYH7) T M 1377 rs397516201 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18119 P12883 (MYH7) A T 1379 rs397516202 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18120 P12883 (MYH7) R W 1382 rs730880910 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18121 P12883 (MYH7) L M 1414 rs201895208 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18122 P12883 (MYH7) R W 1420 rs145213771 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18123 P12883 (MYH7) E K 1426 rs397516208 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18124 P12883 (MYH7) A T 1454 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18125 P12883 (MYH7) K N 1459 rs201307101 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18126 P12883 (MYH7) R C 1475 rs139646545 Benign
18127 P12883 (MYH7) S C 1491 rs3729823 Benign
18128 P12883 (MYH7) R P 1500 rs121913647 Disease: Myopathy, distal, 1 (MPD1) [MIM:160500]
18129 P12883 (MYH7) T S 1513 rs397516222 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18130 P12883 (MYH7) S C 1519 - Benign
18131 P12883 (MYH7) E K 1555 - Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18132 P12883 (MYH7) E K 1573 rs750987717 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18133 P12883 (MYH7) R C 1634 rs397516232 Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18134 P12883 (MYH7) A P 1663 rs797044601 Disease: Myopathy, distal, 1 (MPD1) [MIM:160500]
18135 P12883 (MYH7) V M 1692 - Benign
18136 P12883 (MYH7) L P 1706 rs797044602 Disease: Myopathy, distal, 1 (MPD1) [MIM:160500]
18137 P12883 (MYH7) R W 1712 rs121913650 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18138 P12883 (MYH7) E K 1752 rs730880916 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18139 P12883 (MYH7) E K 1753 rs545585809 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18140 P12883 (MYH7) E K 1768 rs397516241 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18141 P12883 (MYH7) S G 1776 rs369437262 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18142 P12883 (MYH7) S T 1776 - Disease: Left ventricular non- compaction 5 (LVNC5) [MIM:613426]
18143 P12883 (MYH7) A T 1777 rs200939753 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18144 P12883 (MYH7) L P 1793 rs121913654 Disease: Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358]
18145 P12883 (MYH7) R W 1820 rs145734640 Disease: Myopathy, myosin storage, autosomal recessive (MSMB) [MIM:255160]
18146 P12883 (MYH7) R W 1845 rs28933098 Disease: Scapuloperon eal myopathy MYH7-related (SPMM) [MIM:181430]
18147 P12883 (MYH7) T M 1854 rs372381770 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18148 P12883 (MYH7) E K 1883 rs121913652 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18149 P12883 (MYH7) H L 1901 rs121913649 Disease: Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358]
18150 P12883 (MYH7) N K 1918 - Disease: Cardiomyopat hy, dilated 1S (CMD1S) [MIM:613426]
18151 P12883 (MYH7) K N 1919 - Benign
18152 P12883 (MYH7) T M 1929 rs730880918 Disease: Cardiomyopat hy, familial hypertrophic 1 (CMH1) [MIM:192600]
18153 P12931 (SRC) L F 176 rs6018260 Benign
18154 P12931 (SRC) A T 237 rs34881773 Benign
18155 P12931 (SRC) E K 527 rs879255268 Disease: Thrombocytop enia 6 (THC6) [MIM:616937]
18156 P12955 (PEPD) R Q 184 rs121917722 Disease: Prolidase deficiency (PD) [MIM:170100]
18157 P12955 (PEPD) D N 276 rs121917721 Disease: Prolidase deficiency (PD) [MIM:170100]
18158 P12955 (PEPD) G D 278 rs121917723 Disease: Prolidase deficiency (PD) [MIM:170100]
18159 P12955 (PEPD) R H 388 rs2230062 Benign
18160 P12955 (PEPD) L F 435 rs17570 Benign
18161 P12955 (PEPD) G R 448 rs121917724 Disease: Prolidase deficiency (PD) [MIM:170100]
18162 P13010 (XRCC5) L F 463 rs1805380 Benign
18163 P13010 (XRCC5) I V 508 rs2287558 Benign
18164 P13051 (UNG) Q R 4 rs7488798 Benign
18165 P13051 (UNG) F S 251 rs104894380 Disease: Immunodefici ency with hyper-IgM 5 (HIGM5) [MIM:608106]
18166 P13073 (COX4I1) A T 3 rs11557187 Benign
18167 P13073 (COX4I1) Y F 38 - Benign
18168 P13164 (IFITM1) P A 13 rs9667990 Benign
18169 P13224 (GP1BB) Y C 113 rs121909750 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
18170 P13224 (GP1BB) A P 133 rs121909751 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
18171 P13236 (CCL4) M V 12 rs1049752 Benign
18172 P13236 (CCL4) P L 20 rs1130750 Benign
18173 P13236 (CCL4) S T 80 rs1719152 Benign
18174 P13349 (MYF5) R C 95 - Disease: Ophthalmople gia, external, with rib and vertebral anomalies (EORVA) [MIM:618155]
18175 P13385 (TDGF1) V A 22 rs11130097 Benign
18176 P13385 (TDGF1) Y D 43 rs2293025 Benign
18177 P13385 (TDGF1) R G 111 rs34501971 Benign
18178 P13473 (LAMP2) P H 256 rs1043878 Benign
18179 P13473 (LAMP2) W R 321 rs104894859 Disease: Danon disease (DAND) [MIM:300257]
18180 P13489 (RNH1) P L 170 rs17585 Benign
18181 P13497 (BMP1) G R 12 rs318240762 Disease: Osteogenesis imperfecta 13 (OI13) [MIM:614856]
18182 P13497 (BMP1) F L 249 rs398122891 Disease: Osteogenesis imperfecta 13 (OI13) [MIM:614856]
18183 P13497 (BMP1) M V 270 rs786205219 Disease: Osteogenesis imperfecta 13 (OI13) [MIM:614856]
18184 P13497 (BMP1) V I 719 rs11996036 Benign
18185 P13498 (CYBA) G R 24 rs28941476 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18186 P13498 (CYBA) G D 25 rs179363891 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18187 P13498 (CYBA) G V 25 rs179363891 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18188 P13498 (CYBA) L P 52 rs179363890 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18189 P13498 (CYBA) E V 53 rs179363893 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18190 P13498 (CYBA) Y H 72 rs4673 Benign
18191 P13498 (CYBA) R Q 90 rs104894513 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18192 P13498 (CYBA) R W 90 rs179363892 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18193 P13498 (CYBA) H R 94 rs104894510 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18194 P13498 (CYBA) S R 118 rs104894514 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18195 P13498 (CYBA) A V 124 rs179363894 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18196 P13498 (CYBA) A T 125 rs119103269 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18197 P13498 (CYBA) P Q 156 rs104894515 Disease: Granulomatou s disease, chronic, cytochrome-b -negative, autosomal recessive (ARCGD) [MIM:233690]
18198 P13498 (CYBA) E G 171 rs72667005 Benign
18199 P13498 (CYBA) V A 174 rs1049254 Benign
18200 P13498 (CYBA) E D 193 rs72667006 Benign
18201 P13501 (CCL5) S F 24 rs377415776 Benign
18202 P13521 (SCG2) Y H 61 rs16864976 Benign
18203 P13521 (SCG2) A V 196 rs1438157 Benign
18204 P13521 (SCG2) D G 294 rs17852053 Benign
18205 P13521 (SCG2) R G 421 rs17856669 Benign
18206 P13521 (SCG2) D G 535 rs17852054 Benign
18207 P13521 (SCG2) P L 564 rs36043001 Benign
18208 P13533 (MYH6) G R 56 rs28711516 Benign
18209 P13533 (MYH6) E Q 88 rs442275 Benign
18210 P13533 (MYH6) I N 275 rs201327273 Benign
18211 P13533 (MYH6) R W 721 rs387906656 Disease: Sick sinus syndrome 3 (SSS3) [MIM:614090]
18212 P13533 (MYH6) L M 783 rs11847151 Benign
18213 P13533 (MYH6) R Q 795 rs267606907 Disease: Cardiomyopat hy, familial hypertrophic 14 (CMH14) [MIM:613251]
18214 P13533 (MYH6) I N 820 rs267606903 Disease: Atrial septal defect 3 (ASD3) [MIM:614089]
18215 P13533 (MYH6) P L 830 rs267606906 Disease: Cardiomyopat hy, dilated 1EE (CMD1EE) [MIM:613252]
18216 P13533 (MYH6) A S 1004 rs143978652 Disease: Cardiomyopat hy, dilated 1EE (CMD1EE) [MIM:613252]
18217 P13533 (MYH6) Q H 1065 rs267606904 Disease: Cardiomyopat hy, familial hypertrophic 14 (CMH14) [MIM:613251]
18218 P13533 (MYH6) V A 1101 rs365990 Benign
18219 P13533 (MYH6) A T 1130 rs28730771 Benign
18220 P13533 (MYH6) E Q 1295 rs34935550 Benign
18221 P13533 (MYH6) E K 1457 rs267606905 Disease: Cardiomyopat hy, dilated 1EE (CMD1EE) [MIM:613252]
18222 P13533 (MYH6) Q L 1593 rs45574136 Benign
18223 P13533 (MYH6) T S 1737 rs1059854 Benign
18224 P13535 (MYH8) I T 326 rs34124921 Benign
18225 P13535 (MYH8) A V 636 rs34693726 Benign
18226 P13535 (MYH8) R Q 674 rs121434590 Disease: Carney complex variant (CACOV) [MIM:608837]
18227 P13535 (MYH8) E G 924 rs4372733 Benign
18228 P13535 (MYH8) M T 1229 rs35962914 Benign
18229 P13535 (MYH8) E G 1261 rs1063926 Benign
18230 P13535 (MYH8) W R 1692 rs8069834 Benign
18231 P13569 (CFTR) S F 13 rs397508635 Disease: Cystic fibrosis (CF) [MIM:219700]
18232 P13569 (CFTR) R C 31 rs1800073 Benign
18233 P13569 (CFTR) R L 31 rs149353983 Disease: Cystic fibrosis (CF) [MIM:219700]
18234 P13569 (CFTR) S F 42 rs143456784 Disease: Cystic fibrosis (CF) [MIM:219700]
18235 P13569 (CFTR) D V 44 rs1800074 Benign
18236 P13569 (CFTR) S Y 50 rs397508220 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18237 P13569 (CFTR) W G 57 rs397508272 Disease: Cystic fibrosis (CF) [MIM:219700]
18238 P13569 (CFTR) P L 67 rs368505753 Disease: Cystic fibrosis (CF) [MIM:219700]
18239 P13569 (CFTR) R W 74 rs115545701 Disease: Cystic fibrosis (CF) [MIM:219700]
18240 P13569 (CFTR) R Q 75 rs1800076 Benign
18241 P13569 (CFTR) G E 85 rs75961395 Disease: Cystic fibrosis (CF) [MIM:219700]
18242 P13569 (CFTR) F L 87 rs397508403 Disease: Cystic fibrosis (CF) [MIM:219700]
18243 P13569 (CFTR) G R 91 rs121908750 Disease: Cystic fibrosis (CF) [MIM:219700]
18244 P13569 (CFTR) E K 92 rs121908751 Disease: Cystic fibrosis (CF) [MIM:219700]
18245 P13569 (CFTR) Q R 98 rs397508464 Disease: Cystic fibrosis (CF) [MIM:219700]
18246 P13569 (CFTR) I S 105 - Disease: Cystic fibrosis (CF) [MIM:219700]
18247 P13569 (CFTR) Y C 109 rs121909031 Disease: Cystic fibrosis (CF) [MIM:219700]
18248 P13569 (CFTR) P L 111 rs140502196 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18249 P13569 (CFTR) R C 117 rs77834169 Disease: Cystic fibrosis (CF) [MIM:219700]
18250 P13569 (CFTR) R H 117 rs78655421 Disease: Cystic fibrosis (CF) [MIM:219700]
18251 P13569 (CFTR) R L 117 rs78655421 Disease: Cystic fibrosis (CF) [MIM:219700]
18252 P13569 (CFTR) R P 117 rs78655421 Disease: Cystic fibrosis (CF) [MIM:219700]
18253 P13569 (CFTR) A T 120 rs201958172 Disease: Cystic fibrosis (CF) [MIM:219700]
18254 P13569 (CFTR) L P 138 rs1800078 Benign
18255 P13569 (CFTR) H R 139 rs76371115 Disease: Cystic fibrosis (CF) [MIM:219700]
18256 P13569 (CFTR) A D 141 rs397508700 Disease: Cystic fibrosis (CF) [MIM:219700]
18257 P13569 (CFTR) G R 149 rs397508718 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18258 P13569 (CFTR) G R 178 rs80282562 Disease: Cystic fibrosis (CF) [MIM:219700]
18259 P13569 (CFTR) S G 182 rs1800080 Benign
18260 P13569 (CFTR) E K 193 rs397508759 Disease: Cystic fibrosis (CF) [MIM:219700]
18261 P13569 (CFTR) H Q 199 rs397508765 Disease: Cystic fibrosis (CF) [MIM:219700]
18262 P13569 (CFTR) H Y 199 rs121908802 Disease: Cystic fibrosis (CF) [MIM:219700]
18263 P13569 (CFTR) P S 205 rs121908803 Disease: Cystic fibrosis (CF) [MIM:219700]
18264 P13569 (CFTR) L W 206 rs121908752 Disease: Cystic fibrosis (CF) [MIM:219700]
18265 P13569 (CFTR) M K 244 rs397508790 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18266 P13569 (CFTR) R G 258 rs191456345 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18267 P13569 (CFTR) N Y 287 rs397508804 Disease: Cystic fibrosis (CF) [MIM:219700]
18268 P13569 (CFTR) R Q 297 rs143486492 Disease: Cystic fibrosis (CF) [MIM:219700]
18269 P13569 (CFTR) S N 307 rs397508817 Disease: Cystic fibrosis (CF) [MIM:219700]
18270 P13569 (CFTR) F L 311 rs121909016 Disease: Cystic fibrosis (CF) [MIM:219700]
18271 P13569 (CFTR) G E 314 rs75763344 Disease: Cystic fibrosis (CF) [MIM:219700]
18272 P13569 (CFTR) G R 314 rs397508819 Disease: Cystic fibrosis (CF) [MIM:219700]
18273 P13569 (CFTR) V M 322 rs1800085 Benign
18274 P13569 (CFTR) R W 334 rs121909011 Disease: Cystic fibrosis (CF) [MIM:219700]
18275 P13569 (CFTR) I K 336 rs397508139 Disease: Cystic fibrosis (CF) [MIM:219700]
18276 P13569 (CFTR) T I 338 rs77409459 Disease: Cystic fibrosis (CF) [MIM:219700]
18277 P13569 (CFTR) L P 346 rs397508146 Disease: Cystic fibrosis (CF) [MIM:219700]
18278 P13569 (CFTR) R H 347 rs77932196 Disease: Cystic fibrosis (CF) [MIM:219700]
18279 P13569 (CFTR) R L 347 rs77932196 Disease: Cystic fibrosis (CF) [MIM:219700]
18280 P13569 (CFTR) R P 347 rs77932196 Disease: Cystic fibrosis (CF) [MIM:219700]
18281 P13569 (CFTR) T S 351 rs1800086 Benign
18282 P13569 (CFTR) R Q 352 rs121908753 Disease: Cystic fibrosis (CF) [MIM:219700]
18283 P13569 (CFTR) Q H 353 rs1800087 Benign
18284 P13569 (CFTR) Q K 359 rs76879328 Disease: Cystic fibrosis (CF) [MIM:219700]
18285 P13569 (CFTR) A E 455 rs74551128 Disease: Cystic fibrosis (CF) [MIM:219700]
18286 P13569 (CFTR) V F 456 rs397508195 Disease: Cystic fibrosis (CF) [MIM:219700]
18287 P13569 (CFTR) G V 458 rs121909009 Disease: Cystic fibrosis (CF) [MIM:219700]
18288 P13569 (CFTR) L F 467 rs1800089 Benign
18289 P13569 (CFTR) V M 470 rs213950 Benign
18290 P13569 (CFTR) G C 480 rs79282516 Disease: Cystic fibrosis (CF) [MIM:219700]
18291 P13569 (CFTR) S F 492 rs121909017 Disease: Cystic fibrosis (CF) [MIM:219700]
18292 P13569 (CFTR) E Q 504 rs397508223 Disease: Cystic fibrosis (CF) [MIM:219700]
18293 P13569 (CFTR) I M 506 rs1800092 Benign
18294 P13569 (CFTR) I V 506 rs1800091 Benign
18295 P13569 (CFTR) I V 507 rs1800091 Benign
18296 P13569 (CFTR) F C 508 rs74571530 Benign
18297 P13569 (CFTR) D G 513 rs397508225 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18298 P13569 (CFTR) V F 520 rs77646904 Disease: Cystic fibrosis (CF) [MIM:219700]
18299 P13569 (CFTR) K E 532 rs35032490 Benign
18300 P13569 (CFTR) G V 544 rs397508241 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18301 P13569 (CFTR) S I 549 rs121908755 Disease: Cystic fibrosis (CF) [MIM:219700]
18302 P13569 (CFTR) S N 549 rs121908755 Disease: Cystic fibrosis (CF) [MIM:219700]
18303 P13569 (CFTR) S R 549 rs121909005 Disease: Cystic fibrosis (CF) [MIM:219700]
18304 P13569 (CFTR) G D 551 rs75527207 Disease: Cystic fibrosis (CF) [MIM:219700]
18305 P13569 (CFTR) G S 551 rs121909013 Disease: Cystic fibrosis (CF) [MIM:219700]
18306 P13569 (CFTR) R Q 553 rs121909044 Disease: Cystic fibrosis (CF) [MIM:219700]
18307 P13569 (CFTR) L S 558 rs193922504 Disease: Cystic fibrosis (CF) [MIM:219700]
18308 P13569 (CFTR) A T 559 rs75549581 Disease: Cystic fibrosis (CF) [MIM:219700]
18309 P13569 (CFTR) R K 560 rs80055610 Disease: Cystic fibrosis (CF) [MIM:219700]
18310 P13569 (CFTR) R S 560 rs397508267 Disease: Cystic fibrosis (CF) [MIM:219700]
18311 P13569 (CFTR) R T 560 rs80055610 Disease: Cystic fibrosis (CF) [MIM:219700]
18312 P13569 (CFTR) A E 561 rs121909047 Disease: Cystic fibrosis (CF) [MIM:219700]
18313 P13569 (CFTR) V L 562 rs1800097 Disease: Cystic fibrosis (CF) [MIM:219700]
18314 P13569 (CFTR) Y N 563 rs121909006 Disease: Cystic fibrosis (CF) [MIM:219700]
18315 P13569 (CFTR) Y C 569 rs397508277 Disease: Cystic fibrosis (CF) [MIM:219700]
18316 P13569 (CFTR) Y D 569 rs397508276 Disease: Cystic fibrosis (CF) [MIM:219700]
18317 P13569 (CFTR) Y H 569 rs397508276 Disease: Cystic fibrosis (CF) [MIM:219700]
18318 P13569 (CFTR) L S 571 rs397508280 Disease: Cystic fibrosis (CF) [MIM:219700]
18319 P13569 (CFTR) D N 572 rs397508282 Disease: Cystic fibrosis (CF) [MIM:219700]
18320 P13569 (CFTR) P H 574 rs121908758 Disease: Cystic fibrosis (CF) [MIM:219700]
18321 P13569 (CFTR) D G 579 rs397508288 Disease: Cystic fibrosis (CF) [MIM:219700]
18322 P13569 (CFTR) I F 601 rs397508306 Disease: Cystic fibrosis (CF) [MIM:219700]
18323 P13569 (CFTR) S F 605 rs766874 Benign
18324 P13569 (CFTR) L S 610 rs397508311 Disease: Cystic fibrosis (CF) [MIM:219700]
18325 P13569 (CFTR) A T 613 rs201978662 Disease: Cystic fibrosis (CF) [MIM:219700]
18326 P13569 (CFTR) D G 614 rs201124247 Disease: Cystic fibrosis (CF) [MIM:219700]
18327 P13569 (CFTR) I T 618 rs139468767 Disease: Cystic fibrosis (CF) [MIM:219700]
18328 P13569 (CFTR) L S 619 rs397508313 Disease: Cystic fibrosis (CF) [MIM:219700]
18329 P13569 (CFTR) H P 620 rs397508314 Disease: Cystic fibrosis (CF) [MIM:219700]
18330 P13569 (CFTR) H Q 620 rs397508315 Disease: Cystic fibrosis (CF) [MIM:219700]
18331 P13569 (CFTR) G D 622 rs121908759 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18332 P13569 (CFTR) G R 628 rs397508316 Disease: Cystic fibrosis (CF) [MIM:219700]
18333 P13569 (CFTR) L P 633 rs397508318 Disease: Cystic fibrosis (CF) [MIM:219700]
18334 P13569 (CFTR) D V 648 rs121909033 Disease: Cystic fibrosis (CF) [MIM:219700]
18335 P13569 (CFTR) D N 651 rs780526529 Disease: Cystic fibrosis (CF) [MIM:219700]
18336 P13569 (CFTR) S G 654 rs1800099 Benign
18337 P13569 (CFTR) T S 665 rs1177201180 Disease: Cystic fibrosis (CF) [MIM:219700]
18338 P13569 (CFTR) V M 754 rs150157202 Disease: Cystic fibrosis (CF) [MIM:219700]
18339 P13569 (CFTR) R M 766 rs397508363 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18340 P13569 (CFTR) R G 792 rs145449046 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18341 P13569 (CFTR) A G 800 rs397508373 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18342 P13569 (CFTR) I M 807 rs1800103 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18343 P13569 (CFTR) E K 822 rs397508378 Disease: Cystic fibrosis (CF) [MIM:219700]
18344 P13569 (CFTR) E K 826 rs397508381 Benign
18345 P13569 (CFTR) C Y 866 rs193922506 Disease: Cystic fibrosis (CF) [MIM:219700]
18346 P13569 (CFTR) Y H 903 rs1800106 Benign
18347 P13569 (CFTR) S I 909 rs1800107 Benign
18348 P13569 (CFTR) S L 912 rs121909034 Benign
18349 P13569 (CFTR) Y C 913 rs121909008 Disease: Cystic fibrosis (CF) [MIM:219700]
18350 P13569 (CFTR) Y C 917 rs397508428 Disease: Cystic fibrosis (CF) [MIM:219700]
18351 P13569 (CFTR) H Y 949 rs121909035 Disease: Cystic fibrosis (CF) [MIM:219700]
18352 P13569 (CFTR) L S 967 rs1800110 Benign
18353 P13569 (CFTR) I R 1005 rs397508479 Disease: Cystic fibrosis (CF) [MIM:219700]
18354 P13569 (CFTR) A E 1006 rs397508480 Disease: Cystic fibrosis (CF) [MIM:219700]
18355 P13569 (CFTR) P L 1013 rs193922516 Disease: Cystic fibrosis (CF) [MIM:219700]
18356 P13569 (CFTR) I T 1027 rs1800112 Benign
18357 P13569 (CFTR) M I 1028 rs200553511 Disease: Cystic fibrosis (CF) [MIM:219700]
18358 P13569 (CFTR) F V 1052 rs150212784 Disease: Cystic fibrosis (CF) [MIM:219700]
18359 P13569 (CFTR) G R 1061 rs142394380 Disease: Cystic fibrosis (CF) [MIM:219700]
18360 P13569 (CFTR) L P 1065 rs121909036 Disease: Cystic fibrosis (CF) [MIM:219700]
18361 P13569 (CFTR) L R 1065 rs121909036 Disease: Cystic fibrosis (CF) [MIM:219700]
18362 P13569 (CFTR) R C 1066 rs78194216 Disease: Cystic fibrosis (CF) [MIM:219700]
18363 P13569 (CFTR) R H 1066 rs121909019 Disease: Cystic fibrosis (CF) [MIM:219700]
18364 P13569 (CFTR) R L 1066 rs121909019 Disease: Cystic fibrosis (CF) [MIM:219700]
18365 P13569 (CFTR) A V 1067 rs1800114 Benign
18366 P13569 (CFTR) A T 1067 rs121909020 Disease: Cystic fibrosis (CF) [MIM:219700]
18367 P13569 (CFTR) R P 1070 rs78769542 Disease: Cystic fibrosis (CF) [MIM:219700]
18368 P13569 (CFTR) R Q 1070 rs78769542 Disease: Cystic fibrosis (CF) [MIM:219700]
18369 P13569 (CFTR) R W 1070 rs202179988 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18370 P13569 (CFTR) Q P 1071 rs121909037 Disease: Cystic fibrosis (CF) [MIM:219700]
18371 P13569 (CFTR) P L 1072 - Disease: Cystic fibrosis (CF) [MIM:219700]
18372 P13569 (CFTR) L P 1077 rs139304906 Disease: Cystic fibrosis (CF) [MIM:219700]
18373 P13569 (CFTR) H R 1085 rs79635528 Disease: Cystic fibrosis (CF) [MIM:219700]
18374 P13569 (CFTR) W R 1098 rs397508531 Disease: Cystic fibrosis (CF) [MIM:219700]
18375 P13569 (CFTR) M K 1101 rs36210737 Disease: Cystic fibrosis (CF) [MIM:219700]
18376 P13569 (CFTR) M R 1101 rs36210737 Disease: Cystic fibrosis (CF) [MIM:219700]
18377 P13569 (CFTR) M V 1137 rs397508553 Disease: Cystic fibrosis (CF) [MIM:219700]
18378 P13569 (CFTR) D H 1152 rs75541969 Disease: Cystic fibrosis (CF) [MIM:219700]
18379 P13569 (CFTR) R L 1162 rs1800120 Benign
18380 P13569 (CFTR) T I 1220 rs1800123 Benign
18381 P13569 (CFTR) I V 1234 rs75389940 Disease: Cystic fibrosis (CF) [MIM:219700]
18382 P13569 (CFTR) S R 1235 rs34911792 Disease: Cystic fibrosis (CF) [MIM:219700]
18383 P13569 (CFTR) G E 1244 rs267606723 Disease: Cystic fibrosis (CF) [MIM:219700]
18384 P13569 (CFTR) G E 1249 rs121909040 Disease: Cystic fibrosis (CF) [MIM:219700]
18385 P13569 (CFTR) S N 1251 rs74503330 Disease: Cystic fibrosis (CF) [MIM:219700]
18386 P13569 (CFTR) S P 1255 rs121909041 Disease: Cystic fibrosis (CF) [MIM:219700]
18387 P13569 (CFTR) D N 1270 rs11971167 Disease: Cystic fibrosis (CF) [MIM:219700]
18388 P13569 (CFTR) W R 1282 rs397508616 Disease: Cystic fibrosis (CF) [MIM:219700]
18389 P13569 (CFTR) R M 1283 rs77902683 Disease: Cystic fibrosis (CF) [MIM:219700]
18390 P13569 (CFTR) F S 1286 rs121909028 Disease: Cystic fibrosis (CF) [MIM:219700]
18391 P13569 (CFTR) Q H 1291 rs121909015 Disease: Cystic fibrosis (CF) [MIM:219700]
18392 P13569 (CFTR) Q R 1291 rs397508621 Disease: Cystic fibrosis (CF) [MIM:219700]
18393 P13569 (CFTR) N H 1303 rs121909042 Disease: Cystic fibrosis (CF) [MIM:219700]
18394 P13569 (CFTR) N K 1303 rs80034486 Disease: Cystic fibrosis (CF) [MIM:219700]
18395 P13569 (CFTR) G D 1349 rs193922525 Disease: Cystic fibrosis (CF) [MIM:219700]
18396 P13569 (CFTR) A V 1364 rs397508670 Disease: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
18397 P13569 (CFTR) V E 1397 rs397508691 Disease: Cystic fibrosis (CF) [MIM:219700]
18398 P13569 (CFTR) R W 1453 rs4148725 Benign
18399 P13584 (CYP4B1) A V 111 rs45559437 Benign
18400 P13584 (CYP4B1) R W 173 rs4646487 Benign
18401 P13584 (CYP4B1) R W 264 rs45446505 Benign
18402 P13584 (CYP4B1) R Q 274 rs45578838 Benign
18403 P13584 (CYP4B1) S G 322 rs45467195 Benign
18404 P13584 (CYP4B1) Y S 329 rs12094024 Benign
18405 P13584 (CYP4B1) M I 331 rs2297810 Benign
18406 P13584 (CYP4B1) R C 340 rs4646491 Benign
18407 P13584 (CYP4B1) V I 345 - Benign
18408 P13584 (CYP4B1) F C 354 rs17102592 Benign
18409 P13584 (CYP4B1) R C 375 rs2297809 Benign
18410 P13584 (CYP4B1) R Q 482 rs45622937 Benign
18411 P13591 (NCAM1) L F 7 rs7105734 Benign
18412 P13591 (NCAM1) D N 260 rs17115160 Benign
18413 P13591 (NCAM1) E D 679 rs17115280 Benign
18414 P13591 (NCAM1) T M 834 rs17174409 Benign
18415 P13598 (ICAM2) A T 37 rs5503 Benign
18416 P13598 (ICAM2) R H 199 rs5504 Benign
18417 P13598 (ICAM2) R Q 256 rs3764867 Benign
18418 P13611 (VCAN) S L 300 rs2652098 Benign
18419 P13611 (VCAN) G D 428 rs2287926 Benign
18420 P13611 (VCAN) K R 1516 rs309559 Benign
18421 P13611 (VCAN) R H 1826 rs188703 Benign
18422 P13611 (VCAN) F Y 2301 rs160278 Benign
18423 P13611 (VCAN) V L 2315 rs3734094 Benign
18424 P13611 (VCAN) D Y 2937 rs160277 Benign
18425 P13611 (VCAN) N K 3011 rs16900532 Benign
18426 P13612 (ITGA4) S T 634 rs35322532 Benign
18427 P13612 (ITGA4) V A 824 rs1143675 Benign
18428 P13612 (ITGA4) R Q 878 rs1143676 Benign
18429 P13631 (RARG) S L 427 rs2229774 Benign
18430 P13637 (ATP1A3) S F 137 rs542652468 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18431 P13637 (ATP1A3) S Y 137 rs542652468 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18432 P13637 (ATP1A3) Q L 140 rs606231427 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18433 P13637 (ATP1A3) D N 220 rs1396898460 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18434 P13637 (ATP1A3) I N 274 rs80356532 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18435 P13637 (ATP1A3) I T 274 rs80356532 Disease: Dystonia 12 (DYT12) [MIM:128235]
18436 P13637 (ATP1A3) E K 277 rs80356533 Disease: Dystonia 12 (DYT12) [MIM:128235]
18437 P13637 (ATP1A3) A T 320 rs879255368 Disease: -
18438 P13637 (ATP1A3) V D 322 rs606231428 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18439 P13637 (ATP1A3) C F 333 rs606231430 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18440 P13637 (ATP1A3) L P 371 rs606231433 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18441 P13637 (ATP1A3) T M 613 rs80356534 Disease: Dystonia 12 (DYT12) [MIM:128235]
18442 P13637 (ATP1A3) G C 755 rs557052809 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18443 P13637 (ATP1A3) G S 755 rs557052809 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18444 P13637 (ATP1A3) I S 758 rs80356535 Disease: Dystonia 12 (DYT12) [MIM:128235]
18445 P13637 (ATP1A3) S R 772 rs534926223 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18446 P13637 (ATP1A3) N I 773 rs606231437 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18447 P13637 (ATP1A3) N S 773 rs606231437 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18448 P13637 (ATP1A3) F L 780 rs80356536 Disease: Dystonia 12 (DYT12) [MIM:128235]
18449 P13637 (ATP1A3) D N 801 rs80356537 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18450 P13637 (ATP1A3) D Y 801 rs80356537 Disease: Dystonia 12 (DYT12) [MIM:128235]
18451 P13637 (ATP1A3) M R 806 rs549006436 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18452 P13637 (ATP1A3) I S 810 rs536681257 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18453 P13637 (ATP1A3) S P 811 rs387907282 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18454 P13637 (ATP1A3) E K 815 rs387907281 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18455 P13637 (ATP1A3) E K 818 rs587777771 Disease: Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineura l hearing loss (CAPOS) [MIM:601338]
18456 P13637 (ATP1A3) D N 923 rs267606670 Disease: Dystonia 12 (DYT12) [MIM:128235]
18457 P13637 (ATP1A3) D Y 923 rs267606670 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18458 P13637 (ATP1A3) C Y 927 rs606231444 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18459 P13637 (ATP1A3) G R 947 rs398122887 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18460 P13637 (ATP1A3) A D 955 rs606231446 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18461 P13637 (ATP1A3) D Y 992 rs606231447 Disease: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
18462 P13639 (EEF2) P H 596 rs587777052 Disease: Spinocerebel lar ataxia 26 (SCA26) [MIM:609306]
18463 P13645 (KRT10) I S 101 rs4261597 Benign
18464 P13645 (KRT10) G S 126 rs77919366 Benign
18465 P13645 (KRT10) M R 150 rs58901407 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18466 P13645 (KRT10) M T 150 rs58901407 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18467 P13645 (KRT10) N H 154 rs57784225 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18468 P13645 (KRT10) R C 156 rs58852768 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18469 P13645 (KRT10) R H 156 rs58075662 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18470 P13645 (KRT10) R P 156 rs58075662 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18471 P13645 (KRT10) R S 156 rs58852768 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18472 P13645 (KRT10) Y D 160 rs58414354 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18473 P13645 (KRT10) Y N 160 - Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18474 P13645 (KRT10) Y S 160 rs58735429 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18475 P13645 (KRT10) L S 161 rs60118264 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18476 P13645 (KRT10) R E 422 rs59075499 Disease: Ichthyosis annular epidermolyti c (AEI) [MIM:607602]
18477 P13645 (KRT10) K E 439 rs61434181 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18478 P13645 (KRT10) L Q 442 rs58026994 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18479 P13645 (KRT10) I T 446 rs62651994 Disease: Ichthyosis annular epidermolyti c (AEI) [MIM:607602]
18480 P13645 (KRT10) Y C 449 rs267607383 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
18481 P13645 (KRT10) H Y 487 rs17855579 Benign
18482 P13646 (KRT13) F Y 81 rs12150581 Benign
18483 P13646 (KRT13) M T 108 rs60364670 Disease: White sponge nevus 2 (WSN2) [MIM:615785]
18484 P13646 (KRT13) L P 111 rs59897026 Disease: White sponge nevus 2 (WSN2) [MIM:615785]
18485 P13646 (KRT13) N S 112 rs59970018 Disease: White sponge nevus 2 (WSN2) [MIM:615785]
18486 P13646 (KRT13) L P 115 rs60906702 Disease: White sponge nevus 2 (WSN2) [MIM:615785]
18487 P13646 (KRT13) L P 119 rs60440396 Disease: White sponge nevus 2 (WSN2) [MIM:615785]
18488 P13646 (KRT13) A G 146 rs760134 Benign
18489 P13646 (KRT13) A V 187 rs9891361 Benign
18490 P13646 (KRT13) T A 298 rs4796697 Benign
18491 P13647 (KRT5) P L 25 rs57499817 Disease: Epidermolysi s bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]
18492 P13647 (KRT5) S R 79 rs1065115 Benign
18493 P13647 (KRT5) G E 138 rs11170164 Benign
18494 P13647 (KRT5) V D 143 rs59851104 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
18495 P13647 (KRT5) P L 152 rs60617604 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18496 P13647 (KRT5) D V 158 rs61222761 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18497 P13647 (KRT5) I S 161 rs58058996 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18498 P13647 (KRT5) R S 165 rs267607456 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18499 P13647 (KRT5) E K 167 rs57378129 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18500 P13647 (KRT5) E K 168 rs58619430 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18501 P13647 (KRT5) R P 169 rs60720877 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18502 P13647 (KRT5) E K 170 rs59115483 Disease: Epidermolysi s bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]
18503 P13647 (KRT5) K N 173 rs58163069 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
18504 P13647 (KRT5) L F 175 rs57890479 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18505 P13647 (KRT5) N S 176 rs59092197 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18506 P13647 (KRT5) N S 177 rs61495052 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18507 P13647 (KRT5) F S 179 rs57781042 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18508 P13647 (KRT5) S P 181 rs60715293 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18509 P13647 (KRT5) V E 186 rs267607457 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18510 P13647 (KRT5) V L 186 rs121912475 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
18511 P13647 (KRT5) V M 186 rs121912475 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
18512 P13647 (KRT5) E K 190 rs58976397 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18513 P13647 (KRT5) Q P 191 rs57751134 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
18514 P13647 (KRT5) N K 193 rs60586163 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18515 P13647 (KRT5) D E 197 rs641615 Benign
18516 P13647 (KRT5) K T 199 rs58766676 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18517 P13647 (KRT5) S N 232 rs200333163 Benign
18518 P13647 (KRT5) L P 311 rs59864957 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18519 P13647 (KRT5) T P 321 - Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18520 P13647 (KRT5) V A 323 rs59840738 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
18521 P13647 (KRT5) V D 324 rs59335325 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18522 P13647 (KRT5) L P 325 rs58107458 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
18523 P13647 (KRT5) M K 327 rs58072617 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18524 P13647 (KRT5) M T 327 rs58072617 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18525 P13647 (KRT5) D E 328 rs59464425 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18526 P13647 (KRT5) D G 328 rs57142010 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18527 P13647 (KRT5) D H 328 rs56790237 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18528 P13647 (KRT5) D V 328 rs57142010 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18529 P13647 (KRT5) N K 329 rs59730172 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18530 P13647 (KRT5) R C 331 rs61297109 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18531 P13647 (KRT5) R H 331 rs56729325 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18532 P13647 (KRT5) R S 352 rs59112594 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18533 P13647 (KRT5) S T 387 rs2669875 Benign
18534 P13647 (KRT5) K E 404 rs60809982 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18535 P13647 (KRT5) E K 418 rs121912476 Disease: Epidermolysi s bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]
18536 P13647 (KRT5) A T 428 rs267607458 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18537 P13647 (KRT5) A D 438 rs57845028 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
18538 P13647 (KRT5) L P 463 rs57599352 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
18539 P13647 (KRT5) I T 467 rs60271599 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18540 P13647 (KRT5) T P 469 rs60596287 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18541 P13647 (KRT5) E G 475 rs61348633 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18542 P13647 (KRT5) E K 475 rs57155193 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18543 P13647 (KRT5) E K 477 rs59190510 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
18544 P13647 (KRT5) G D 517 rs58608695 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
18545 P13647 (KRT5) S G 528 rs11549950 Benign
18546 P13647 (KRT5) G S 543 rs11549949 Benign
18547 P13667 (PDIA4) T M 173 rs2290971 Benign
18548 P13671 (C6) A E 119 rs1801033 Benign
18549 P13671 (C6) K E 397 rs6896011 Benign
18550 P13671 (C6) S F 470 rs10462014 Benign
18551 P13686 (ACP5) K M 52 - Disease: Spondyloench ondrodysplas ia with immune dysregulatio n (SPENCDI) [MIM:607944]
18552 P13686 (ACP5) T I 89 rs387906668 Disease: Spondyloench ondrodysplas ia with immune dysregulatio n (SPENCDI) [MIM:607944]
18553 P13686 (ACP5) G R 109 rs781050795 Disease: Spondyloench ondrodysplas ia with immune dysregulatio n (SPENCDI) [MIM:607944]
18554 P13686 (ACP5) V M 148 rs2305799 Benign
18555 P13686 (ACP5) V M 200 rs2229531 Benign
18556 P13686 (ACP5) L P 201 rs387906672 Disease: Spondyloench ondrodysplas ia with immune dysregulatio n (SPENCDI) [MIM:607944]
18557 P13686 (ACP5) G R 215 rs781199182 Disease: Spondyloench ondrodysplas ia with immune dysregulatio n (SPENCDI) [MIM:607944]
18558 P13686 (ACP5) V I 221 rs2229532 Benign
18559 P13686 (ACP5) D N 241 - Disease: Spondyloench ondrodysplas ia with immune dysregulatio n (SPENCDI) [MIM:607944]
18560 P13686 (ACP5) N H 262 rs1449857485 Disease: Spondyloench ondrodysplas ia with immune dysregulatio n (SPENCDI) [MIM:607944]
18561 P13686 (ACP5) M K 264 rs387906670 Disease: Spondyloench ondrodysplas ia with immune dysregulatio n (SPENCDI) [MIM:607944]
18562 P13688 (CEACAM1) Q K 35 rs8111171 Benign
18563 P13688 (CEACAM1) A V 83 rs8110904 Benign
18564 P13688 (CEACAM1) Q H 123 rs8111468 Benign
18565 P13688 (CEACAM1) Q R 376 rs41355544 Benign
18566 P13693 (TPT1) V F 146 rs3087989 Benign
18567 P13716 (ALAD) F L 12 rs121912984 Benign
18568 P13716 (ALAD) K N 59 rs1800435 Benign
18569 P13716 (ALAD) G R 133 rs121912980 Disease: Acute hepatic porphyria (AHEPP) [MIM:612740]
18570 P13716 (ALAD) V M 153 - Disease: Acute hepatic porphyria (AHEPP) [MIM:612740]
18571 P13716 (ALAD) R W 240 rs121912982 Disease: Acute hepatic porphyria (AHEPP) [MIM:612740]
18572 P13716 (ALAD) A T 274 rs121912983 Disease: Acute hepatic porphyria (AHEPP) [MIM:612740]
18573 P13716 (ALAD) V M 275 rs121912981 Disease: Acute hepatic porphyria (AHEPP) [MIM:612740]
18574 P13725 (OSM) T M 9 rs5763919 Benign
18575 P13726 (F3) T A 36 rs3917604 Benign
18576 P13726 (F3) I V 145 rs3917627 Benign
18577 P13726 (F3) R W 163 rs5901 Benign
18578 P13726 (F3) G E 281 rs3789683 Benign
18579 P13727 (PRG2) H Y 206 rs536455 Benign
18580 P13747 (HLA-E) N K 98 rs1059510 Benign
18581 P13747 (HLA-E) G R 128 rs1264457 Benign
18582 P13747 (HLA-E) R G 178 rs41562314 Benign
18583 P13762 (HLA-DRB4) D G 105 - Benign
18584 P13762 (HLA-DRB4) T N 106 - Benign
18585 P13762 (HLA-DRB4) Y H 110 - Benign
18586 P13762 (HLA-DRB4) G R 113 - Benign
18587 P13762 (HLA-DRB4) H Y 141 - Benign
18588 P13762 (HLA-DRB4) G S 164 - Benign
18589 P13765 (HLA-DOB) R Q 18 rs2071554 Benign
18590 P13765 (HLA-DOB) V I 210 rs11575907 Benign
18591 P13765 (HLA-DOB) L F 234 rs2070121 Benign
18592 P13765 (HLA-DOB) V I 244 rs2621330 Benign
18593 P13796 (LCP1) D E 24 - Benign
18594 P13796 (LCP1) K E 533 rs4941543 Benign
18595 P13796 (LCP1) P A 544 rs17067725 Benign
18596 P13798 (APEH) T M 541 rs3816877 Benign
18597 P13804 (ETFA) G R 116 rs119458971 Disease: Glutaric aciduria 2A (GA2A) [MIM:231680]
18598 P13804 (ETFA) V G 157 rs119458969 Disease: Glutaric aciduria 2A (GA2A) [MIM:231680]
18599 P13804 (ETFA) T I 171 rs1801591 Benign
18600 P13804 (ETFA) T M 266 rs119458970 Disease: Glutaric aciduria 2A (GA2A) [MIM:231680]
18601 P13807 (GYS1) I M 108 rs5455 Benign
18602 P13807 (GYS1) K E 130 rs5456 Benign
18603 P13807 (GYS1) N S 283 rs5461 Benign
18604 P13807 (GYS1) E G 359 rs5465 Benign
18605 P13807 (GYS1) M V 416 rs5447 Benign
18606 P13807 (GYS1) G S 464 rs200862074 Benign
18607 P13807 (GYS1) E Q 619 rs5450 Benign
18608 P13807 (GYS1) P A 691 rs5453 Benign
18609 P13866 (SLC5A1) D G 28 rs121912669 Disease: Congenital glucose/gala ctose malabsorptio n (GGM) [MIM:606824]
18610 P13866 (SLC5A1) D N 28 rs121912668 Disease: Congenital glucose/gala ctose malabsorptio n (GGM) [MIM:606824]
18611 P13866 (SLC5A1) N S 51 rs17683011 Benign
18612 P13866 (SLC5A1) R W 135 - Disease: Congenital glucose/gala ctose malabsorptio n (GGM) [MIM:606824]
18613 P13866 (SLC5A1) G R 318 rs371505974 Disease: Congenital glucose/gala ctose malabsorptio n (GGM) [MIM:606824]
18614 P13866 (SLC5A1) A T 411 rs17683430 Benign
18615 P13866 (SLC5A1) A V 468 rs200406921 Disease: Congenital glucose/gala ctose malabsorptio n (GGM) [MIM:606824]
18616 P13928 (ANXA8) S A 6 rs3870786 Benign
18617 P13928 (ANXA8) G A 177 rs3013886 Benign
18618 P13929 (ENO3) N S 71 rs238238 Benign
18619 P13929 (ENO3) V A 85 rs238239 Benign
18620 P13929 (ENO3) G D 156 rs121918403 Disease: Glycogen storage disease 13 (GSD13) [MIM:612932]
18621 P13929 (ENO3) G E 374 rs121918404 Disease: Glycogen storage disease 13 (GSD13) [MIM:612932]
18622 P13942 (COL11A2) A S 37 rs606231410 Disease: Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]
18623 P13942 (COL11A2) P S 236 rs35116188 Benign
18624 P13942 (COL11A2) E K 276 rs9277934 Benign
18625 P13942 (COL11A2) D G 593 - Benign
18626 P13942 (COL11A2) P T 621 rs121912952 Disease: Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]
18627 P13942 (COL11A2) G R 661 rs121912945 Disease: Otospondylom egaepiphysea l dysplasia, autosomal recessive (OSMEDB) [MIM:215150]
18628 P13942 (COL11A2) G E 808 rs121912948 Disease: Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868]
18629 P13942 (COL11A2) E K 824 rs1799909 Benign
18630 P13942 (COL11A2) P L 879 rs747883362 Benign
18631 P13942 (COL11A2) P T 888 rs864309523 Disease: Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]
18632 P13942 (COL11A2) L P 894 rs2855430 Benign
18633 P13942 (COL11A2) R C 1034 rs121912947 Disease: Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868]
18634 P13942 (COL11A2) P T 1316 rs2229784 Benign
18635 P13942 (COL11A2) P L 1422 rs555936333 Benign
18636 P13942 (COL11A2) G E 1441 rs121912946 Disease: Otospondylom egaepiphysea l dysplasia, autosomal dominant (OSMEDA) [MIM:184840]
18637 P13942 (COL11A2) R Q 1600 rs1799912 Benign
18638 P13942 (COL11A2) E D 1628 rs2229790 Benign
18639 P13942 (COL11A2) P L 1722 rs2229792 Benign
18640 P13945 (ADRB3) W R 64 rs4994 Benign
18641 P13945 (ADRB3) E K 249 rs28364012 Benign
18642 P13945 (ADRB3) T M 265 rs4995 Benign
18643 P13945 (ADRB3) R C 353 rs36031925 Benign
18644 P13987 (CD59) C Y 89 rs397514767 Disease: Hemolytic anemia, CD59-mediate d, with or without polyneuropat hy (HACD59) [MIM:612300]
18645 P13994 (CCDC130) S C 22 rs12974461 Benign
18646 P13994 (CCDC130) C S 336 rs35761244 Benign
18647 P14060 (HSD3B1) T I 54 rs3088283 Benign
18648 P14060 (HSD3B1) R I 71 rs4986952 Benign
18649 P14060 (HSD3B1) I V 79 rs6201 Benign
18650 P14060 (HSD3B1) G S 90 rs6684974 Benign
18651 P14060 (HSD3B1) F L 286 rs6205 Benign
18652 P14060 (HSD3B1) T N 367 rs1047303 Benign
18653 P14061 (HSD17B1) A V 238 rs147402365 Benign
18654 P14061 (HSD17B1) G S 313 rs605059 Benign
18655 P14091 (CTSE) I V 82 rs57621203 Benign
18656 P14091 (CTSE) T I 324 rs6503 Benign
18657 P14136 (GFAP) P L 47 rs57474185 Benign
18658 P14136 (GFAP) K Q 63 rs60095124 Disease: Alexander disease (ALXDRD) [MIM:203450]
18659 P14136 (GFAP) R Q 66 rs797044569 Disease: Alexander disease (ALXDRD) [MIM:203450]
18660 P14136 (GFAP) R Q 70 rs267607510 Disease: Alexander disease (ALXDRD) [MIM:203450]
18661 P14136 (GFAP) R W 70 rs60343255 Disease: Alexander disease (ALXDRD) [MIM:203450]
18662 P14136 (GFAP) E K 72 rs267607523 Disease: Alexander disease (ALXDRD) [MIM:203450]
18663 P14136 (GFAP) M K 73 rs61060395 Disease: Alexander disease (ALXDRD) [MIM:203450]
18664 P14136 (GFAP) M R 73 rs61060395 Disease: Alexander disease (ALXDRD) [MIM:203450]
18665 P14136 (GFAP) M T 73 rs61060395 Disease: Alexander disease (ALXDRD) [MIM:203450]
18666 P14136 (GFAP) M T 74 rs267607504 Disease: Alexander disease (ALXDRD) [MIM:203450]
18667 P14136 (GFAP) L F 76 rs57120761 Disease: Alexander disease (ALXDRD) [MIM:203450]
18668 P14136 (GFAP) L V 76 rs57120761 Disease: Alexander disease (ALXDRD) [MIM:203450]
18669 P14136 (GFAP) N K 77 - Disease: Alexander disease (ALXDRD) [MIM:203450]
18670 P14136 (GFAP) N S 77 rs57590980 Disease: Alexander disease (ALXDRD) [MIM:203450]
18671 P14136 (GFAP) N Y 77 rs58732244 Disease: Alexander disease (ALXDRD) [MIM:203450]
18672 P14136 (GFAP) D E 78 rs121909720 Disease: Alexander disease (ALXDRD) [MIM:203450]
18673 P14136 (GFAP) D N 78 rs797044571 Disease: Alexander disease (ALXDRD) [MIM:203450]
18674 P14136 (GFAP) R C 79 rs59793293 Disease: Alexander disease (ALXDRD) [MIM:203450]
18675 P14136 (GFAP) R G 79 rs59793293 Disease: Alexander disease (ALXDRD) [MIM:203450]
18676 P14136 (GFAP) R H 79 rs59285727 Disease: Alexander disease (ALXDRD) [MIM:203450]
18677 P14136 (GFAP) R L 79 rs59285727 Disease: Alexander disease (ALXDRD) [MIM:203450]
18678 P14136 (GFAP) R P 79 rs59285727 Disease: Alexander disease (ALXDRD) [MIM:203450]
18679 P14136 (GFAP) Y H 83 rs267607506 Disease: Alexander disease (ALXDRD) [MIM:203450]
18680 P14136 (GFAP) K E 86 rs797044573 Disease: Alexander disease (ALXDRD) [MIM:203450]
18681 P14136 (GFAP) R C 88 rs61622935 Disease: Alexander disease (ALXDRD) [MIM:203450]
18682 P14136 (GFAP) R S 88 rs61622935 Disease: Alexander disease (ALXDRD) [MIM:203450]
18683 P14136 (GFAP) L P 90 rs59661476 Disease: Alexander disease (ALXDRD) [MIM:203450]
18684 P14136 (GFAP) L P 97 rs59568967 Disease: Alexander disease (ALXDRD) [MIM:203450]
18685 P14136 (GFAP) L P 101 rs267607516 Disease: Alexander disease (ALXDRD) [MIM:203450]
18686 P14136 (GFAP) V I 115 rs56746197 Benign
18687 P14136 (GFAP) D N 157 rs59291670 Benign
18688 P14136 (GFAP) E K 207 rs267607500 Disease: Alexander disease (ALXDRD) [MIM:203450]
18689 P14136 (GFAP) E Q 207 rs267607500 Disease: Alexander disease (ALXDRD) [MIM:203450]
18690 P14136 (GFAP) E K 210 rs57661783 Disease: Alexander disease (ALXDRD) [MIM:203450]
18691 P14136 (GFAP) E Q 223 rs56679084 Benign
18692 P14136 (GFAP) L P 235 rs60269890 Disease: Alexander disease (ALXDRD) [MIM:203450]
18693 P14136 (GFAP) K T 236 rs267607525 Disease: Alexander disease (ALXDRD) [MIM:203450]
18694 P14136 (GFAP) R C 239 rs58064122 Disease: Alexander disease (ALXDRD) [MIM:203450]
18695 P14136 (GFAP) R H 239 rs59565950 Disease: Alexander disease (ALXDRD) [MIM:203450]
18696 P14136 (GFAP) R L 239 rs59565950 Disease: Alexander disease (ALXDRD) [MIM:203450]
18697 P14136 (GFAP) R P 239 rs59565950 Disease: Alexander disease (ALXDRD) [MIM:203450]
18698 P14136 (GFAP) Y D 242 rs60551555 Disease: Alexander disease (ALXDRD) [MIM:203450]
18699 P14136 (GFAP) A G 253 rs61726470 Disease: Alexander disease (ALXDRD) [MIM:203450]
18700 P14136 (GFAP) Y C 257 rs267607505 Disease: Alexander disease (ALXDRD) [MIM:203450]
18701 P14136 (GFAP) R P 258 rs61726468 Disease: Alexander disease (ALXDRD) [MIM:203450]
18702 P14136 (GFAP) A P 267 rs797044581 Disease: Alexander disease (ALXDRD) [MIM:203450]
18703 P14136 (GFAP) R L 276 rs121909719 Disease: Alexander disease (ALXDRD) [MIM:203450]
18704 P14136 (GFAP) K E 279 rs58536923 Disease: Alexander disease (ALXDRD) [MIM:203450]
18705 P14136 (GFAP) D N 295 rs1126642 Benign
18706 P14136 (GFAP) R G 330 rs267607513 Disease: Alexander disease (ALXDRD) [MIM:203450]
18707 P14136 (GFAP) E K 332 rs267607514 Disease: Alexander disease (ALXDRD) [MIM:203450]
18708 P14136 (GFAP) L P 352 rs28932769 Disease: Alexander disease (ALXDRD) [MIM:203450]
18709 P14136 (GFAP) L P 359 rs267607511 Disease: Alexander disease (ALXDRD) [MIM:203450]
18710 P14136 (GFAP) L V 359 rs60825166 Disease: Alexander disease (ALXDRD) [MIM:203450]
18711 P14136 (GFAP) E D 362 rs121909718 Disease: Alexander disease (ALXDRD) [MIM:203450]
18712 P14136 (GFAP) A P 364 rs58645997 Disease: Alexander disease (ALXDRD) [MIM:203450]
18713 P14136 (GFAP) Y H 366 rs58008462 Disease: Alexander disease (ALXDRD) [MIM:203450]
18714 P14136 (GFAP) E Q 371 rs267607526 Disease: Alexander disease (ALXDRD) [MIM:203450]
18715 P14136 (GFAP) E V 371 rs57815192 Disease: Alexander disease (ALXDRD) [MIM:203450]
18716 P14136 (GFAP) E D 373 - Disease: Alexander disease (ALXDRD) [MIM:203450]
18717 P14136 (GFAP) E K 373 rs58075601 Disease: Alexander disease (ALXDRD) [MIM:203450]
18718 P14136 (GFAP) E Q 373 rs58075601 Disease: Alexander disease (ALXDRD) [MIM:203450]
18719 P14136 (GFAP) E G 374 rs59628143 Disease: Alexander disease (ALXDRD) [MIM:203450]
18720 P14136 (GFAP) E Q 374 - Disease: Alexander disease (ALXDRD) [MIM:203450]
18721 P14136 (GFAP) R G 376 rs267607512 Disease: Alexander disease (ALXDRD) [MIM:203450]
18722 P14136 (GFAP) S F 385 rs797044590 Disease: Alexander disease (ALXDRD) [MIM:203450]
18723 P14136 (GFAP) R W 416 rs121909717 Disease: Alexander disease (ALXDRD) [MIM:203450]
18724 P14138 (EDN3) A T 17 rs11570255 Benign
18725 P14138 (EDN3) Y C 127 rs752400458 Disease: Waardenburg syndrome 4B (WS4B) [MIM:613265]
18726 P14138 (EDN3) C F 159 rs74315384 Disease: Waardenburg syndrome 4B (WS4B) [MIM:613265]
18727 P14138 (EDN3) A T 224 rs11570351 Disease: Hirschsprung disease 4 (HSCR4) [MIM:613712]
18728 P14151 (SELL) F L 193 rs1131498 Benign
18729 P14151 (SELL) E Q 201 rs2229568 Benign
18730 P14151 (SELL) P S 213 rs2229569 Benign
18731 P14151 (SELL) N D 369 rs4987382 Benign
18732 P14209 (CD99) M V 166 rs4793 Benign
18733 P14209 (CD99) N I 173 rs4717 Benign
18734 P14210 (HGF) E K 304 rs5745687 Benign
18735 P14210 (HGF) D Y 330 rs5745688 Benign
18736 P14222 (PRF1) R H 4 rs35418374 Benign
18737 P14222 (PRF1) V M 50 rs776299562 Disease: Familial hemophagocyt ic lymphohistio cytosis 2 (FHL2) [MIM:603553]
18738 P14222 (PRF1) A V 91 rs35947132 Benign
18739 P14222 (PRF1) R H 123 rs139336186 Benign
18740 P14222 (PRF1) V M 135 rs12263572 Benign
18741 P14222 (PRF1) V G 183 rs104894183 Disease: Familial hemophagocyt ic lymphohistio cytosis 2 (FHL2) [MIM:603553]
18742 P14222 (PRF1) I N 224 - Disease: Familial hemophagocyt ic lymphohistio cytosis 2 (FHL2) [MIM:603553]
18743 P14222 (PRF1) R W 225 rs28933973 Disease: Familial hemophagocyt ic lymphohistio cytosis 2 (FHL2) [MIM:603553]
18744 P14222 (PRF1) N S 252 rs28933375 Disease: Familial hemophagocyt ic lymphohistio cytosis 2 (FHL2) [MIM:603553]
18745 P14222 (PRF1) C Y 279 rs104894182 Disease: Familial hemophagocyt ic lymphohistio cytosis 2 (FHL2) [MIM:603553]
18746 P14222 (PRF1) P L 345 rs28933374 Disease: Familial hemophagocyt ic lymphohistio cytosis 2 (FHL2) [MIM:603553]
18747 P14222 (PRF1) G E 429 rs104894181 Disease: Familial hemophagocyt ic lymphohistio cytosis 2 (FHL2) [MIM:603553]
18748 P14314 (PRKCSH) S N 74 rs10406672 Benign
18749 P14314 (PRKCSH) A T 291 rs11557488 Benign
18750 P14314 (PRKCSH) A G 338 rs35847588 Benign
18751 P14317 (HCLS1) T A 235 rs2070179 Benign
18752 P14317 (HCLS1) E K 361 rs2070180 Benign
18753 P14317 (HCLS1) V L 436 rs9869984 Benign
18754 P14324 (FDPS) R Q 179 rs863225241 Disease: Porokeratosi s 9, multiple types (POROK9) [MIM:616631]
18755 P14324 (FDPS) V A 364 rs41314549 Benign
18756 P14324 (FDPS) I V 391 rs17456 Benign
18757 P14384 (CPM) R H 24 rs7978197 Benign
18758 P14384 (CPM) V I 133 rs7309831 Benign
18759 P14406 (COX7A2) E D 40 - Benign
18760 P14410 (SI) V F 15 rs9290264 Benign
18761 P14410 (SI) Q R 117 rs121912612 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18762 P14410 (SI) T A 231 rs9283633 Benign
18763 P14410 (SI) L P 341 rs267607049 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18764 P14410 (SI) V G 577 rs121912615 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18765 P14410 (SI) S P 594 rs765433197 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18766 P14410 (SI) L P 620 rs121912613 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18767 P14410 (SI) T P 694 - Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18768 P14410 (SI) G D 1073 rs121912616 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18769 P14410 (SI) Q P 1098 rs121912611 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18770 P14410 (SI) C Y 1229 rs121912614 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18771 P14410 (SI) R G 1367 rs143388292 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18772 P14410 (SI) M I 1523 rs4855271 Benign
18773 P14410 (SI) F C 1745 rs79717168 Disease: Congenital sucrase- isomaltase deficiency (CSID) [MIM:222900]
18774 P14410 (SI) T S 1802 rs9917722 Benign
18775 P14415 (ATP1B2) Q L 124 rs34745087 Benign
18776 P14415 (ATP1B2) T A 199 rs2227866 Benign
18777 P14416 (DRD2) P S 310 rs1800496 Benign
18778 P14416 (DRD2) S C 311 rs1801028 Benign
18779 P14416 (DRD2) K E 327 rs71653614 Benign
18780 P14543 (NID1) R L 31 rs2071529 Benign
18781 P14543 (NID1) S R 60 rs17857302 Benign
18782 P14543 (NID1) V I 246 rs10733133 Benign
18783 P14543 (NID1) R H 302 rs16833183 Benign
18784 P14543 (NID1) R H 335 rs34406281 Benign
18785 P14543 (NID1) R H 387 rs16833154 Benign
18786 P14543 (NID1) Q R 669 rs3738534 Benign
18787 P14543 (NID1) Q H 807 rs3738531 Benign
18788 P14543 (NID1) K E 970 rs16833060 Benign
18789 P14543 (NID1) L V 1163 rs16833032 Benign
18790 P14543 (NID1) T I 1226 rs6662744 Benign
18791 P14543 (NID1) Q R 1246 rs3213190 Benign
18792 P14550 (AKR1A1) N S 52 rs2229540 Benign
18793 P14550 (AKR1A1) E D 55 rs6690497 Benign
18794 P14555 (PLA2G2A) H Y 19 rs11573162 Benign
18795 P14598 (NCF1) R Q 42 rs119103270 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 1, autosomal recessive (CGD1) [MIM:233700]
18796 P14598 (NCF1) R H 90 rs13447 Benign
18797 P14598 (NCF1) S G 99 rs10614 Benign
18798 P14598 (NCF1) T S 160 - Benign
18799 P14598 (NCF1) N D 166 rs782555266 Benign
18800 P14598 (NCF1) K E 258 - Benign
18801 P14598 (NCF1) G S 262 rs1489201208 Benign
18802 P14598 (NCF1) A V 308 rs13739 Benign
18803 P14616 (INSRR) A E 127 rs55757706 Benign
18804 P14616 (INSRR) A V 161 rs55971900 Benign
18805 P14616 (INSRR) R H 244 rs55951840 Benign
18806 P14616 (INSRR) C R 246 rs56377825 Benign
18807 P14616 (INSRR) R C 554 rs56068937 Benign
18808 P14616 (INSRR) P L 928 rs56252149 Benign
18809 P14618 (PKM) G V 204 rs17853396 Benign
18810 P14651 (HOXB3) P T 82 rs2229304 Benign
18811 P14653 (HOXB1) T N 71 rs35254561 Benign
18812 P14653 (HOXB1) Q H 103 rs12939811 Benign
18813 P14653 (HOXB1) R C 207 rs387907239 Disease: Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]
18814 P14653 (HOXB1) E G 265 rs7226137 Benign
18815 P14672 (SLC2A4) S R 55 rs35198331 Benign
18816 P14672 (SLC2A4) T S 78 rs5434 Benign
18817 P14672 (SLC2A4) A V 358 rs8192702 Benign
18818 P14672 (SLC2A4) V I 383 rs121434581 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
18819 P14672 (SLC2A4) I T 385 rs775242206 Benign
18820 P14678 (SNRPB) N S 55 - Disease: Cerebrocosto mandibular syndrome (CCMS) [MIM:117650]
18821 P14678 (SNRPB) N T 55 - Disease: Cerebrocosto mandibular syndrome (CCMS) [MIM:117650]
18822 P14678 (SNRPB) S R 56 - Disease: Cerebrocosto mandibular syndrome (CCMS) [MIM:117650]
18823 P14678 (SNRPB) S W 56 - Disease: Cerebrocosto mandibular syndrome (CCMS) [MIM:117650]
18824 P14678 (SNRPB) S P 79 rs11545672 Benign
18825 P14679 (TYR) H Q 19 rs61753177 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18826 P14679 (TYR) P S 21 rs61753178 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18827 P14679 (TYR) C Y 36 rs61753179 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18828 P14679 (TYR) D G 42 rs28940878 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18829 P14679 (TYR) S G 44 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18830 P14679 (TYR) S R 44 rs755700581 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18831 P14679 (TYR) G D 47 rs61753180 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18832 P14679 (TYR) G V 47 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18833 P14679 (TYR) S L 50 rs61753181 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18834 P14679 (TYR) R I 52 rs61753182 Benign
18835 P14679 (TYR) C Y 55 rs28940879 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18836 P14679 (TYR) Q H 68 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18837 P14679 (TYR) R Q 77 rs61753185 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18838 P14679 (TYR) R W 77 rs61753184 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18839 P14679 (TYR) S L 79 rs544053015 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18840 P14679 (TYR) W R 80 rs61753188 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18841 P14679 (TYR) P L 81 rs28940876 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18842 P14679 (TYR) C R 89 rs28940877 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18843 P14679 (TYR) C Y 91 rs137854890 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18844 P14679 (TYR) G R 97 rs61753252 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18845 P14679 (TYR) G R 109 rs61753253 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18846 P14679 (TYR) F C 134 rs33955261 Benign
18847 P14679 (TYR) K N 142 rs11545463 Benign
18848 P14679 (TYR) P S 152 rs145513733 Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18849 P14679 (TYR) T S 155 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18850 P14679 (TYR) F I 176 rs61753259 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18851 P14679 (TYR) V F 177 rs138487695 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18852 P14679 (TYR) M L 179 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18853 P14679 (TYR) H N 180 rs779878377 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18854 P14679 (TYR) S Y 192 rs1042602 Benign
18855 P14679 (TYR) I T 198 rs750553908 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18856 P14679 (TYR) D N 199 rs1338186937 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18857 P14679 (TYR) A S 201 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18858 P14679 (TYR) P T 205 rs61754362 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18859 P14679 (TYR) A T 206 rs28940880 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18860 P14679 (TYR) L M 216 rs61754363 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18861 P14679 (TYR) R G 217 rs63159160 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18862 P14679 (TYR) R Q 217 rs61754365 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18863 P14679 (TYR) R S 217 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18864 P14679 (TYR) R W 217 rs63159160 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18865 P14679 (TYR) W L 236 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18866 P14679 (TYR) W S 236 rs61754367 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18867 P14679 (TYR) R W 239 rs774670098 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18868 P14679 (TYR) D V 240 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18869 P14679 (TYR) K T 243 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18870 P14679 (TYR) G R 253 rs61754369 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18871 P14679 (TYR) H Y 256 rs61754370 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18872 P14679 (TYR) W C 272 rs62645902 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18873 P14679 (TYR) V F 275 rs104894314 Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18874 P14679 (TYR) L S 288 rs1463109821 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18875 P14679 (TYR) C G 289 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18876 P14679 (TYR) C R 289 rs1468041471 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18877 P14679 (TYR) E G 294 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18878 P14679 (TYR) E K 294 rs757754120 Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18879 P14679 (TYR) R W 298 rs200854796 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18880 P14679 (TYR) R H 299 rs61754375 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18881 P14679 (TYR) R S 299 rs61754374 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18882 P14679 (TYR) R T 308 rs1042608 Benign
18883 P14679 (TYR) L V 312 rs61754377 Benign
18884 P14679 (TYR) P R 313 rs61754378 Benign
18885 P14679 (TYR) V E 318 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18886 P14679 (TYR) T A 325 rs61754379 Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18887 P14679 (TYR) E Q 328 rs61754380 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18888 P14679 (TYR) S P 329 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18889 P14679 (TYR) M T 332 rs372534292 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18890 P14679 (TYR) S G 339 rs62645906 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18891 P14679 (TYR) F L 340 rs62645907 Benign
18892 P14679 (TYR) E G 345 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18893 P14679 (TYR) G E 346 rs773970123 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18894 P14679 (TYR) A E 355 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18895 P14679 (TYR) A P 355 rs62645908 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18896 P14679 (TYR) A V 355 rs151206295 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18897 P14679 (TYR) S R 361 rs61754383 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18898 P14679 (TYR) N H 364 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18899 P14679 (TYR) H Y 367 rs776054795 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18900 P14679 (TYR) M T 370 rs61754385 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18901 P14679 (TYR) N T 371 rs61754387 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18902 P14679 (TYR) N Y 371 rs61754386 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18903 P14679 (TYR) T K 373 rs61754388 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18904 P14679 (TYR) Q K 378 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18905 P14679 (TYR) S P 380 rs61754391 Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18906 P14679 (TYR) N K 382 rs104894315 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18907 P14679 (TYR) D N 383 rs121908011 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18908 P14679 (TYR) P A 384 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18909 P14679 (TYR) H D 390 rs62645914 Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18910 P14679 (TYR) V F 393 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18911 P14679 (TYR) S N 395 rs752344007 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18912 P14679 (TYR) S R 395 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18913 P14679 (TYR) E A 398 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18914 P14679 (TYR) E V 398 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18915 P14679 (TYR) W L 400 rs62645916 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18916 P14679 (TYR) R Q 402 rs1126809 Benign
18917 P14679 (TYR) R G 402 - Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18918 P14679 (TYR) R L 402 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18919 P14679 (TYR) R S 403 rs104894316 Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18920 P14679 (TYR) H P 404 rs62645920 Benign
18921 P14679 (TYR) H N 404 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18922 P14679 (TYR) R L 405 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18923 P14679 (TYR) P L 406 rs104894313 Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18924 P14679 (TYR) Q H 408 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18925 P14679 (TYR) E D 409 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18926 P14679 (TYR) A S 416 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18927 P14679 (TYR) P H 417 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18928 P14679 (TYR) G R 419 rs61754392 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18929 P14679 (TYR) R Q 422 rs61754393 Disease: Albinism, oculocutaneo us, 1B (OCA1B) [MIM:606952]
18930 P14679 (TYR) S F 424 rs758747581 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18931 P14679 (TYR) M K 426 rs1362285246 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18932 P14679 (TYR) V G 427 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18933 P14679 (TYR) P L 431 rs281865325 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18934 P14679 (TYR) R I 434 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18935 P14679 (TYR) N D 435 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18936 P14679 (TYR) F V 439 rs281865327 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18937 P14679 (TYR) D G 444 - Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18938 P14679 (TYR) G S 446 rs104894317 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18939 P14679 (TYR) D N 448 rs104894318 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18940 P14679 (TYR) A D 490 rs1050708792 Disease: Albinism, oculocutaneo us, 1A (OCA1A) [MIM:203100]
18941 P14770 (GP9) L P 7 rs121918038 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
18942 P14770 (GP9) C R 24 rs28933378 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
18943 P14770 (GP9) D G 37 rs121918036 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
18944 P14770 (GP9) L P 56 rs28933377 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
18945 P14770 (GP9) N S 61 rs5030764 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
18946 P14770 (GP9) F S 71 rs121918037 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
18947 P14770 (GP9) C Y 113 - Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
18948 P14770 (GP9) A T 156 rs3796130 Benign
18949 P14778 (IL1R1) A G 124 rs2228139 Benign
18950 P14778 (IL1R1) T M 344 rs28362304 Benign
18951 P14780 (MMP9) A V 20 rs1805088 Benign
18952 P14780 (MMP9) N S 38 rs41427445 Benign
18953 P14780 (MMP9) E K 82 rs1805089 Benign
18954 P14780 (MMP9) N K 127 rs3918252 Benign
18955 P14780 (MMP9) R H 239 rs28763886 Benign
18956 P14780 (MMP9) Q R 279 rs17576 Benign
18957 P14780 (MMP9) F V 571 rs35691798 Benign
18958 P14780 (MMP9) R P 574 rs2250889 Benign
18959 P14780 (MMP9) R Q 668 rs17577 Benign
18960 P14784 (IL2RB) L V 10 rs57770674 Benign
18961 P14784 (IL2RB) L P 77 - Disease: Immunodefici ency 63 with lymphoprolif eration and autoimmunity (IMD63) [MIM:618495]
18962 P14784 (IL2RB) S F 83 rs2228143 Benign
18963 P14784 (IL2RB) D E 391 rs228942 Benign
18964 P14854 (COX6B1) R H 20 rs121909602 Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110]
18965 P14867 (GABRA1) R Q 112 rs587777308 Disease: Epileptic encephalopat hy, early infantile, 19 (EIEE19) [MIM:615744]
18966 P14867 (GABRA1) L M 146 - Disease: Epileptic encephalopat hy, early infantile, 19 (EIEE19) [MIM:615744]
18967 P14867 (GABRA1) D N 219 rs587777364 Disease: Epilepsy, idiopathic generalized 13 (EIG13) [MIM:611136]
18968 P14867 (GABRA1) G S 251 rs587777307 Disease: Epileptic encephalopat hy, early infantile, 19 (EIEE19) [MIM:615744]
18969 P14867 (GABRA1) K T 306 rs587777309 Disease: Epileptic encephalopat hy, early infantile, 19 (EIEE19) [MIM:615744]
18970 P14867 (GABRA1) A D 322 rs121434579 Disease: Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136]
18971 P14868 (DARS1) M L 256 rs886037635 Disease: Hypomyelinat ion with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
18972 P14868 (DARS1) A V 274 rs369152939 Disease: Hypomyelinat ion with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
18973 P14868 (DARS1) D Y 367 rs370064817 Disease: Hypomyelinat ion with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
18974 P14868 (DARS1) L F 426 rs1803165 Benign
18975 P14868 (DARS1) R H 460 rs587776985 Disease: Hypomyelinat ion with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
18976 P14868 (DARS1) P L 464 rs148806569 Disease: Hypomyelinat ion with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
18977 P14868 (DARS1) R C 487 rs587776984 Disease: Hypomyelinat ion with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
18978 P14868 (DARS1) R C 494 rs147077598 Disease: Hypomyelinat ion with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
18979 P14868 (DARS1) R G 494 rs147077598 Disease: Hypomyelinat ion with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
18980 P14902 (IDO1) A T 4 rs35059413 Benign
18981 P14923 (JUP) T I 19 rs570878629 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 12 (ARVD12) [MIM:611528]
18982 P14923 (JUP) R H 142 rs41283425 Benign
18983 P14923 (JUP) V I 648 rs143043662 Benign
18984 P14923 (JUP) M L 697 rs1126821 Benign
18985 P14927 (UQCRB) L P 30 rs35895613 Benign
18986 P15056 (BRAF) T M 241 rs387906660 Disease: Noonan syndrome 7 (NS7) [MIM:613706]
18987 P15056 (BRAF) T P 241 rs387906661 Disease: LEOPARD syndrome 3 (LPRD3) [MIM:613707]
18988 P15056 (BRAF) T R 241 rs387906660 Disease: Noonan syndrome 7 (NS7) [MIM:613706]
18989 P15056 (BRAF) T P 244 rs397507465 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
18990 P15056 (BRAF) L F 245 rs397507466 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
18991 P15056 (BRAF) A P 246 rs180177034 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
18992 P15056 (BRAF) Q R 257 rs180177035 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
18993 P15056 (BRAF) Q K 262 rs397507470 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
18994 P15056 (BRAF) E K 275 - Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
18995 P15056 (BRAF) P S 301 rs34776339 Benign
18996 P15056 (BRAF) R I 462 rs180177032 Disease: Colorectal cancer (CRC) [MIM:114500]
18997 P15056 (BRAF) I S 463 rs180177033 Disease: Colorectal cancer (CRC) [MIM:114500]
18998 P15056 (BRAF) G E 464 rs121913348 Disease: Colorectal cancer (CRC) [MIM:114500]
18999 P15056 (BRAF) G V 466 rs121913351 Disease: Lung cancer (LNCR) [MIM:211980]
19000 P15056 (BRAF) S A 467 rs869025606 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19001 P15056 (BRAF) F S 468 rs397507473 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19002 P15056 (BRAF) G A 469 rs121913355 Disease: Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
19003 P15056 (BRAF) G E 469 rs121913355 Disease: Colon cancer
19004 P15056 (BRAF) G R 469 rs121913357 Disease: Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
19005 P15056 (BRAF) L F 485 rs180177036 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19006 P15056 (BRAF) K E 499 rs180177037 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19007 P15056 (BRAF) K N 499 rs397507476 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19008 P15056 (BRAF) E G 501 rs180177039 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19009 P15056 (BRAF) E K 501 rs180177038 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19010 P15056 (BRAF) L P 525 rs869025340 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19011 P15056 (BRAF) W C 531 rs606231228 Disease: Noonan syndrome 7 (NS7) [MIM:613706]
19012 P15056 (BRAF) N D 580 - Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19013 P15056 (BRAF) N D 581 rs180177040 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19014 P15056 (BRAF) D G 594 rs121913338 Disease: Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
19015 P15056 (BRAF) F L 595 rs121913341 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19016 P15056 (BRAF) G V 596 rs397507483 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19017 P15056 (BRAF) L R 597 rs121913366 Disease: Lung cancer (LNCR) [MIM:211980]
19018 P15056 (BRAF) L V 597 rs121913369 Disease: Noonan syndrome 7 (NS7) [MIM:613706]
19019 P15056 (BRAF) T R 599 rs121913375 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19020 P15056 (BRAF) V E 600 rs113488022 Disease: Colorectal cancer (CRC) [MIM:114500]
19021 P15056 (BRAF) K E 601 rs121913364 Disease: Colorectal cancer (CRC) [MIM:114500]
19022 P15056 (BRAF) K Q 601 rs121913364 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19023 P15056 (BRAF) D E 638 rs180177042 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19024 P15056 (BRAF) Q R 709 rs397507486 Disease: Cardiofacioc utaneous syndrome 1 (CFC1) [MIM:115150]
19025 P15085 (CPA1) A T 208 rs34474469 Benign
19026 P15085 (CPA1) H R 276 rs17849959 Benign
19027 P15086 (CPB1) D N 208 rs1059502 Benign
19028 P15088 (CPA3) A S 81 rs2270523 Benign
19029 P15088 (CPA3) T M 171 rs12489516 Benign
19030 P15104 (GLUL) R C 324 rs80358214 Disease: Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
19031 P15104 (GLUL) R C 341 rs80358215 Disease: Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
19032 P15121 (AKR1B1) I F 15 rs5054 Benign
19033 P15121 (AKR1B1) H L 42 rs5056 Benign
19034 P15121 (AKR1B1) L V 73 rs5057 Benign
19035 P15121 (AKR1B1) K E 90 rs2229542 Benign
19036 P15121 (AKR1B1) G S 204 rs5061 Benign
19037 P15121 (AKR1B1) T I 288 rs5062 Benign
19038 P15144 (ANPEP) V M 20 rs10152474 Benign
19039 P15144 (ANPEP) R Q 86 rs25653 Benign
19040 P15144 (ANPEP) D Y 242 - Benign
19041 P15144 (ANPEP) L P 243 - Benign
19042 P15144 (ANPEP) A V 311 rs17240268 Benign
19043 P15144 (ANPEP) T M 321 rs8179199 Benign
19044 P15144 (ANPEP) I K 603 rs17240212 Benign
19045 P15144 (ANPEP) I M 603 rs8192297 Benign
19046 P15144 (ANPEP) S N 752 rs25651 Benign
19047 P15151 (PVR) A T 67 rs1058402 Benign
19048 P15151 (PVR) A T 295 rs35365841 Benign
19049 P15151 (PVR) I M 340 rs203710 Benign
19050 P15153 (RAC2) D N 57 rs74315507 Disease: Neutrophil immunodefici ency syndrome (NEUID) [MIM:608203]
19051 P15169 (CPN1) G D 178 rs61751507 Disease: Carboxypepti dase N deficiency (CPND) [MIM:212070]
19052 P15248 (IL9) T M 117 rs2069885 Benign
19053 P15259 (PGAM2) E A 89 rs104894030 Disease: Glycogen storage disease 10 (GSD10) [MIM:261670]
19054 P15259 (PGAM2) R W 90 rs104894034 Disease: Glycogen storage disease 10 (GSD10) [MIM:261670]
19055 P15259 (PGAM2) G D 97 rs77938727 Disease: Glycogen storage disease 10 (GSD10) [MIM:261670]
19056 P15260 (IFNGR1) V M 14 rs11575936 Benign
19057 P15260 (IFNGR1) I T 37 rs945137618 Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19058 P15260 (IFNGR1) V I 61 rs17175322 Benign
19059 P15260 (IFNGR1) V E 61 rs121912715 Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19060 P15260 (IFNGR1) V G 63 - Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19061 P15260 (IFNGR1) Y C 66 - Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19062 P15260 (IFNGR1) C F 77 - Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19063 P15260 (IFNGR1) C Y 77 rs104893974 Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19064 P15260 (IFNGR1) C Y 85 - Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19065 P15260 (IFNGR1) I T 87 rs104893973 Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19066 P15260 (IFNGR1) S L 149 rs387906572 Benign
19067 P15260 (IFNGR1) G R 180 rs137854904 Benign
19068 P15260 (IFNGR1) E K 197 rs55666220 Benign
19069 P15260 (IFNGR1) G R 219 rs1311661488 Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19070 P15260 (IFNGR1) H P 335 rs17175350 Benign
19071 P15260 (IFNGR1) I M 352 rs199641966 Benign
19072 P15260 (IFNGR1) Y C 397 rs374787981 Benign
19073 P15260 (IFNGR1) L P 467 rs1887415 Benign
19074 P15260 (IFNGR1) S F 485 rs752113778 Disease: Immunodefici ency 27A (IMD27A) [MIM:209950]
19075 P15289 (ARSA) A D 18 rs199476339 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19076 P15289 (ARSA) D N 29 rs199476346 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19077 P15289 (ARSA) D H 30 rs199476340 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19078 P15289 (ARSA) G S 32 rs199476350 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19079 P15289 (ARSA) L P 52 rs199476357 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19080 P15289 (ARSA) L P 68 rs199476351 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19081 P15289 (ARSA) L P 76 rs199476362 Benign
19082 P15289 (ARSA) P L 82 rs6151411 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19083 P15289 (ARSA) R Q 84 rs74315458 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19084 P15289 (ARSA) R W 84 rs199476352 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19085 P15289 (ARSA) G D 86 rs74315460 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19086 P15289 (ARSA) P A 94 rs199476353 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19087 P15289 (ARSA) S N 95 rs199476363 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19088 P15289 (ARSA) S F 96 rs74315456 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19089 P15289 (ARSA) S L 96 rs199476371 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19090 P15289 (ARSA) G D 99 rs74315455 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19091 P15289 (ARSA) G V 99 rs74315455 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19092 P15289 (ARSA) G R 119 rs199476364 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19093 P15289 (ARSA) G S 122 rs74315461 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19094 P15289 (ARSA) L P 135 rs121434215 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19095 P15289 (ARSA) P L 136 rs74315462 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19096 P15289 (ARSA) P S 136 rs60504011 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19097 P15289 (ARSA) H D 138 rs199476358 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19098 P15289 (ARSA) R G 143 rs199476373 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19099 P15289 (ARSA) P L 148 rs199476375 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19100 P15289 (ARSA) D Y 152 rs199476365 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19101 P15289 (ARSA) Q H 153 rs199476377 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19102 P15289 (ARSA) G D 154 rs74315463 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19103 P15289 (ARSA) P L 155 rs74315464 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19104 P15289 (ARSA) P R 155 rs74315464 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19105 P15289 (ARSA) C R 156 rs199476348 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19106 P15289 (ARSA) P R 167 rs74315465 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19107 P15289 (ARSA) D N 169 rs74315466 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19108 P15289 (ARSA) C Y 172 rs199476381 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19109 P15289 (ARSA) I S 179 rs74315457 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19110 P15289 (ARSA) L Q 181 rs199476378 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19111 P15289 (ARSA) Q H 190 rs199476372 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19112 P15289 (ARSA) P T 191 rs199476374 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19113 P15289 (ARSA) W C 193 rs6151415 Benign
19114 P15289 (ARSA) Y C 201 rs199476345 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19115 P15289 (ARSA) A P 212 rs199476341 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19116 P15289 (ARSA) A V 212 rs74315467 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19117 P15289 (ARSA) R H 217 rs148403406 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19118 P15289 (ARSA) F V 219 rs199476383 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19119 P15289 (ARSA) A V 224 rs74315468 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19120 P15289 (ARSA) H Y 227 rs199476354 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19121 P15289 (ARSA) P T 231 rs74315469 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19122 P15289 (ARSA) R C 244 rs74315470 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19123 P15289 (ARSA) R H 244 rs199476366 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19124 P15289 (ARSA) G R 245 rs74315471 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19125 P15289 (ARSA) F S 247 rs199476384 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19126 P15289 (ARSA) S Y 250 rs199476367 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19127 P15289 (ARSA) E K 253 rs74315483 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19128 P15289 (ARSA) D H 255 rs80338819 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19129 P15289 (ARSA) T M 274 rs74315472 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19130 P15289 (ARSA) D Y 281 rs199476386 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19131 P15289 (ARSA) N S 282 rs199476342 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19132 P15289 (ARSA) T P 286 rs28940894 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19133 P15289 (ARSA) R C 288 rs74315473 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19134 P15289 (ARSA) R H 288 rs199476355 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19135 P15289 (ARSA) G D 293 rs199476387 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19136 P15289 (ARSA) G S 293 rs199476349 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19137 P15289 (ARSA) C Y 294 rs199476347 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19138 P15289 (ARSA) S Y 295 rs74315474 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19139 P15289 (ARSA) L S 298 rs199476389 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19140 P15289 (ARSA) C F 300 rs74315484 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19141 P15289 (ARSA) K N 302 rs199476343 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19142 P15289 (ARSA) T M 304 rs199476359 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19143 P15289 (ARSA) Y H 306 rs199476379 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19144 P15289 (ARSA) E K 307 rs199476360 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19145 P15289 (ARSA) G D 308 rs199476356 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19146 P15289 (ARSA) G V 308 rs199476356 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19147 P15289 (ARSA) G S 309 rs74315459 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19148 P15289 (ARSA) R Q 311 rs199476382 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19149 P15289 (ARSA) E D 312 rs199476390 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19150 P15289 (ARSA) A T 314 rs199476368 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19151 P15289 (ARSA) G S 325 rs148092995 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19152 P15289 (ARSA) T I 327 - Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19153 P15289 (ARSA) D V 335 rs74315475 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19154 P15289 (ARSA) N S 350 rs2071421 Benign
19155 P15289 (ARSA) F V 356 rs6151422 Benign
19156 P15289 (ARSA) K N 367 rs199476369 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19157 P15289 (ARSA) R Q 370 rs74315477 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19158 P15289 (ARSA) R W 370 rs74315476 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19159 P15289 (ARSA) Y N 376 rs199476344 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19160 P15289 (ARSA) P L 377 rs74315478 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19161 P15289 (ARSA) D E 381 rs6151425 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19162 P15289 (ARSA) E K 382 rs74315479 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19163 P15289 (ARSA) R C 384 rs199476370 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19164 P15289 (ARSA) R Q 390 rs199476391 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19165 P15289 (ARSA) R W 390 rs74315480 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19166 P15289 (ARSA) T S 391 rs743616 Benign
19167 P15289 (ARSA) H Y 397 rs199476376 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19168 P15289 (ARSA) S G 406 rs199476361 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19169 P15289 (ARSA) T I 408 rs28940895 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19170 P15289 (ARSA) T I 409 rs74315481 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19171 P15289 (ARSA) P T 425 rs74315485 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19172 P15289 (ARSA) P L 426 rs28940893 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19173 P15289 (ARSA) L P 428 rs199476392 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19174 P15289 (ARSA) Y S 429 rs199476380 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19175 P15289 (ARSA) N S 440 rs6151427 Benign
19176 P15289 (ARSA) A V 464 - Benign
19177 P15289 (ARSA) A G 469 rs199476385 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19178 P15289 (ARSA) C G 489 rs199476388 Disease: Metachromati c leukodystrop hy (MLD) [MIM:250100]
19179 P15289 (ARSA) R H 496 rs6151428 Benign
19180 P15291 (B4GALT1) R W 21 rs1065764 Benign
19181 P15291 (B4GALT1) H R 257 rs9169 Benign
19182 P15309 (ACP3) S N 15 rs17850347 Benign
19183 P15309 (ACP3) F V 124 rs17856254 Benign
19184 P15309 (ACP3) W R 226 rs17856253 Benign
19185 P15309 (ACP3) Y H 330 rs17851392 Benign
19186 P15309 (ACP3) V A 360 rs17850198 Benign
19187 P15311 (EZR) R C 180 rs3103004 Benign
19188 P15311 (EZR) A P 494 rs2230143 Benign
19189 P15311 (EZR) L V 532 - Benign
19190 P15313 (ATP6V1B1) T I 30 rs17720303 Benign
19191 P15313 (ATP6V1B1) L P 81 rs121964880 Disease: Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
19192 P15313 (ATP6V1B1) G V 123 - Disease: Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
19193 P15313 (ATP6V1B1) R W 124 rs727505222 Disease: Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
19194 P15313 (ATP6V1B1) R C 157 rs782500780 Disease: Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
19195 P15313 (ATP6V1B1) E K 161 rs114234874 Benign
19196 P15313 (ATP6V1B1) M R 174 - Disease: Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
19197 P15313 (ATP6V1B1) T P 275 rs1161604514 Disease: Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
19198 P15313 (ATP6V1B1) G E 316 - Disease: Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
19199 P15313 (ATP6V1B1) P R 346 rs781838938 Disease: Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
19200 P15313 (ATP6V1B1) G S 364 - Disease: Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
19201 P15313 (ATP6V1B1) R H 465 rs142905621 Benign
19202 P15328 (FOLR1) W R 28 rs7928649 Benign
19203 P15328 (FOLR1) W C 160 rs1801932 Benign
19204 P15382 (KCNE1) T I 7 rs28933384 Disease: Jervell and Lange- Nielsen syndrome 2 (JLNS2) [MIM:612347]
19205 P15382 (KCNE1) S G 38 rs1805127 Benign
19206 P15382 (KCNE1) V F 47 rs199473353 Disease: Jervell and Lange- Nielsen syndrome 2 (JLNS2) [MIM:612347]
19207 P15382 (KCNE1) L H 51 - Disease: Jervell and Lange- Nielsen syndrome 2 (JLNS2) [MIM:612347]
19208 P15382 (KCNE1) G A 52 rs17173509 Benign
19209 P15382 (KCNE1) S L 74 rs74315446 Disease: Long QT syndrome 5 (LQT5) [MIM:613695]
19210 P15382 (KCNE1) D N 76 rs74315445 Disease: Long QT syndrome 5 (LQT5) [MIM:613695]
19211 P15382 (KCNE1) D N 85 rs1805128 Benign
19212 P15382 (KCNE1) W R 87 rs199473361 Disease: Long QT syndrome 5 (LQT5) [MIM:613695]
19213 P15382 (KCNE1) R W 98 rs199473362 Disease: Long QT syndrome 5 (LQT5) [MIM:613695]
19214 P15382 (KCNE1) V I 109 rs77442996 Disease: Long QT syndrome 5 (LQT5) [MIM:613695]
19215 P15382 (KCNE1) P T 127 rs199473647 Disease: Long QT syndrome 5 (LQT5) [MIM:613695]
19216 P15391 (CD19) L V 174 rs2904880 Benign
19217 P15391 (CD19) R H 514 rs34763945 Benign
19218 P15421 (GYPE) G E 13 rs1132785 Benign
19219 P15421 (GYPE) R P 78 rs17018900 Benign
19220 P15428 (HPGD) A P 140 rs121434480 Disease: Cranioosteoa rthropathy (COA) [MIM:259100]
19221 P15428 (HPGD) S P 193 rs121434481 Disease: Isolated congenital nail clubbing (ICNC) [MIM:119900]
19222 P15428 (HPGD) Y C 217 rs140209262 Benign
19223 P15498 (VAV1) T M 739 rs36097961 Benign
19224 P15502 (ELN) G S 422 rs2071307 Benign
19225 P15502 (ELN) G R 610 rs17855988 Benign
19226 P15509 (CSF2RA) G R 196 rs137852353 Disease: Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770]
19227 P15514 (AREG) D V 80 rs373527160 Benign
19228 P15514 (AREG) Y C 81 rs28364979 Benign
19229 P15516 (HTN3) R Q 41 rs1136511 Benign
19230 P15529 (CD46) S F 13 rs138843816 Benign
19231 P15529 (CD46) C Y 35 rs121909591 Disease: Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
19232 P15529 (CD46) R Q 59 rs780693519 Benign
19233 P15529 (CD46) P S 165 rs759136081 Disease: Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
19234 P15529 (CD46) W C 216 - Disease: Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
19235 P15529 (CD46) P R 231 rs1271761432 Disease: Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
19236 P15529 (CD46) S P 240 rs121909589 Disease: Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
19237 P15529 (CD46) D N 266 rs17006830 Benign
19238 P15529 (CD46) P L 324 rs41317833 Benign
19239 P15529 (CD46) A V 353 rs35366573 Benign
19240 P15529 (CD46) V G 355 - Benign
19241 P15531 (NME1) S G 120 rs121917887 Benign
19242 P15538 (CYP11B1) C Y 10 rs6405 Benign
19243 P15538 (CYP11B1) P L 42 rs193922538 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19244 P15538 (CYP11B1) P S 42 rs104894069 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19245 P15538 (CYP11B1) R Q 43 rs4534 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19246 P15538 (CYP11B1) D H 63 rs5282 Benign
19247 P15538 (CYP11B1) F I 79 rs1489638195 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19248 P15538 (CYP11B1) L S 83 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19249 P15538 (CYP11B1) M I 88 rs193922539 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19250 P15538 (CYP11B1) P L 94 rs104894070 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19251 P15538 (CYP11B1) W C 116 rs772003869 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19252 P15538 (CYP11B1) W G 116 rs772733691 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19253 P15538 (CYP11B1) H R 125 rs757389720 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19254 P15538 (CYP11B1) V M 129 rs377423817 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19255 P15538 (CYP11B1) N H 133 rs104894067 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19256 P15538 (CYP11B1) P S 135 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19257 P15538 (CYP11B1) F L 139 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19258 P15538 (CYP11B1) R W 143 rs140336749 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19259 P15538 (CYP11B1) S L 150 rs142484434 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19260 P15538 (CYP11B1) L P 158 rs1554653191 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19261 P15538 (CYP11B1) P L 159 rs370266763 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19262 P15538 (CYP11B1) M I 160 rs5287 Benign
19263 P15538 (CYP11B1) A D 165 rs1554653185 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19264 P15538 (CYP11B1) K R 173 rs4539 Benign
19265 P15538 (CYP11B1) T A 196 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19266 P15538 (CYP11B1) T I 248 rs34620645 Benign
19267 P15538 (CYP11B1) F L 257 rs5288 Benign
19268 P15538 (CYP11B1) G D 267 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19269 P15538 (CYP11B1) S N 281 rs5291 Benign
19270 P15538 (CYP11B1) L V 293 rs5292 Benign
19271 P15538 (CYP11B1) L P 299 rs387907573 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19272 P15538 (CYP11B1) A V 306 rs387907572 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19273 P15538 (CYP11B1) E K 310 rs387907574 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19274 P15538 (CYP11B1) G R 314 rs1336285846 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19275 P15538 (CYP11B1) T M 318 rs104894061 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19276 P15538 (CYP11B1) T P 318 rs1296969984 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19277 P15538 (CYP11B1) T R 318 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19278 P15538 (CYP11B1) T M 319 rs104894068 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19279 P15538 (CYP11B1) F V 321 rs1453371113 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19280 P15538 (CYP11B1) A V 331 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19281 P15538 (CYP11B1) R G 332 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19282 P15538 (CYP11B1) R Q 332 rs149881706 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19283 P15538 (CYP11B1) R S 341 rs372115638 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19284 P15538 (CYP11B1) A T 348 rs6407 Benign
19285 P15538 (CYP11B1) R C 366 rs773245244 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19286 P15538 (CYP11B1) A D 368 rs104894071 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19287 P15538 (CYP11B1) E G 371 rs368944209 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19288 P15538 (CYP11B1) R Q 374 rs104894062 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19289 P15538 (CYP11B1) G V 379 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19290 P15538 (CYP11B1) R G 384 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19291 P15538 (CYP11B1) R Q 384 rs764598023 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19292 P15538 (CYP11B1) A V 386 rs4541 Benign
19293 P15538 (CYP11B1) T A 401 rs201300785 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19294 P15538 (CYP11B1) R H 404 rs4998896 Benign
19295 P15538 (CYP11B1) R H 427 rs754432887 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19296 P15538 (CYP11B1) Y H 439 rs5294 Benign
19297 P15538 (CYP11B1) V G 441 rs772169059 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19298 P15538 (CYP11B1) G D 444 rs779103938 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19299 P15538 (CYP11B1) R C 448 rs1221010438 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19300 P15538 (CYP11B1) R H 448 rs28934586 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19301 P15538 (CYP11B1) R Q 453 rs1447069098 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19302 P15538 (CYP11B1) R C 454 - Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19303 P15538 (CYP11B1) L S 489 rs750428278 Disease: Adrenal hyperplasia 4 (AH4) [MIM:202010]
19304 P15538 (CYP11B1) F C 494 - Benign
19305 P15559 (NQO1) R W 139 rs1131341 Benign
19306 P15559 (NQO1) P S 187 rs1800566 Benign
19307 P15559 (NQO1) Q H 269 rs34447156 Benign
19308 P15586 (GNS) S I 94 - Disease: Mucopolysacc haridosis 3D (MPS3D) [MIM:252940]
19309 P15586 (GNS) K R 340 - Disease: Mucopolysacc haridosis 3D (MPS3D) [MIM:252940]
19310 P15586 (GNS) G E 418 - Disease: Mucopolysacc haridosis 3D (MPS3D) [MIM:252940]
19311 P15621 (ZNF44) G A 92 rs11882046 Benign
19312 P15621 (ZNF44) T A 212 rs11879168 Benign
19313 P15735 (PHKG2) V E 106 rs137853589 Disease: Glycogen storage disease 9C (GSD9C) [MIM:613027]
19314 P15735 (PHKG2) E K 157 rs752961445 Disease: Glycogen storage disease 9C (GSD9C) [MIM:613027]
19315 P15735 (PHKG2) G E 189 rs137853588 Disease: Glycogen storage disease 9C (GSD9C) [MIM:613027]
19316 P15735 (PHKG2) D N 215 rs767427889 Disease: Glycogen storage disease 9C (GSD9C) [MIM:613027]
19317 P15735 (PHKG2) E G 247 rs34006569 Benign
19318 P15735 (PHKG2) A T 317 rs759992249 Benign
19319 P15812 (CD1E) G E 15 rs3180089 Benign
19320 P15812 (CD1E) H R 102 rs2873587 Benign
19321 P15812 (CD1E) Q R 106 rs1065457 Benign
19322 P15812 (CD1E) S N 149 rs35116276 Benign
19323 P15812 (CD1E) R W 164 rs199655202 Benign
19324 P15812 (CD1E) L P 194 rs200741122 Benign
19325 P15813 (CD1D) T S 64 rs62621276 Benign
19326 P15814 (IGLL1) P L 142 rs1064422 Disease: Agammaglobul inemia 2, autosomal recessive (AGM2) [MIM:613500]
19327 P15814 (IGLL1) R H 189 rs8138122 Benign
19328 P15822 (HIVEP1) T M 187 rs2228209 Benign
19329 P15822 (HIVEP1) P L 362 rs34221818 Benign
19330 P15822 (HIVEP1) T A 716 rs2228210 Benign
19331 P15822 (HIVEP1) V I 828 rs2228218 Benign
19332 P15822 (HIVEP1) T A 873 rs6900196 Benign
19333 P15822 (HIVEP1) N S 1074 rs2228220 Benign
19334 P15822 (HIVEP1) K N 1170 rs34258344 Benign
19335 P15822 (HIVEP1) A G 1520 rs2228212 Benign
19336 P15822 (HIVEP1) M I 1609 rs2228213 Benign
19337 P15822 (HIVEP1) Q R 1915 rs1126472 Benign
19338 P15822 (HIVEP1) T M 2444 rs2228214 Benign
19339 P15822 (HIVEP1) A G 2692 rs1042054 Benign
19340 P15848 (ARSB) S F 65 - Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19341 P15848 (ARSB) L R 82 rs749465732 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19342 P15848 (ARSB) T M 92 rs751010538 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19343 P15848 (ARSB) R Q 95 rs118203942 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19344 P15848 (ARSB) P H 116 rs775780931 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19345 P15848 (ARSB) C R 117 rs118203939 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19346 P15848 (ARSB) G V 137 rs118203938 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19347 P15848 (ARSB) M I 142 rs1554088053 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19348 P15848 (ARSB) G R 144 rs746206847 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19349 P15848 (ARSB) W L 146 - Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19350 P15848 (ARSB) W R 146 rs1554088037 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19351 P15848 (ARSB) W S 146 rs1554088034 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19352 P15848 (ARSB) R W 152 rs991104525 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19353 P15848 (ARSB) R Q 160 rs1196325597 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19354 P15848 (ARSB) C R 192 rs1554087423 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19355 P15848 (ARSB) Y C 210 rs118203943 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19356 P15848 (ARSB) L P 236 rs118203940 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19357 P15848 (ARSB) Q R 239 rs1554086431 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19358 P15848 (ARSB) G R 302 rs779378413 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19359 P15848 (ARSB) W C 312 - Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19360 P15848 (ARSB) R Q 315 rs727503809 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19361 P15848 (ARSB) L P 321 rs1554079320 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19362 P15848 (ARSB) V L 358 rs1065757 Benign
19363 P15848 (ARSB) V M 358 rs1065757 Benign
19364 P15848 (ARSB) V M 376 rs1071598 Benign
19365 P15848 (ARSB) S N 384 rs25414 Benign
19366 P15848 (ARSB) H P 393 rs118203944 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19367 P15848 (ARSB) F L 399 rs200793396 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19368 P15848 (ARSB) C Y 405 rs118203941 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19369 P15848 (ARSB) R G 484 rs201101343 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19370 P15848 (ARSB) L P 498 rs774358117 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19371 P15848 (ARSB) C Y 521 rs1554069661 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19372 P15848 (ARSB) P R 531 rs1554069659 Disease: Mucopolysacc haridosis 6 (MPS6) [MIM:253200]
19373 P15863 (PAX1) G V 166 rs540296842 Disease: Otofaciocerv ical syndrome 2 (OTFCS2) [MIM:615560]
19374 P15863 (PAX1) T R 439 rs17861058 Benign
19375 P15863 (PAX1) P L 453 rs17861059 Benign
19376 P15863 (PAX1) P L 504 rs17861061 Benign
19377 P15882 (CHN1) L F 20 rs121912792 Disease: Duane retraction syndrome 2 (DURS2) [MIM:604356]
19378 P15882 (CHN1) I M 126 rs121912793 Disease: Duane retraction syndrome 2 (DURS2) [MIM:604356]
19379 P15882 (CHN1) Y H 143 rs121912794 Disease: Duane retraction syndrome 2 (DURS2) [MIM:604356]
19380 P15882 (CHN1) A V 223 rs121912795 Disease: Duane retraction syndrome 2 (DURS2) [MIM:604356]
19381 P15882 (CHN1) G S 228 rs121912796 Disease: Duane retraction syndrome 2 (DURS2) [MIM:604356]
19382 P15882 (CHN1) P Q 252 rs121912797 Disease: Duane retraction syndrome 2 (DURS2) [MIM:604356]
19383 P15882 (CHN1) E K 313 rs121912798 Disease: Duane retraction syndrome 2 (DURS2) [MIM:604356]
19384 P15884 (TCF4) P T 29 - Disease: -
19385 P15884 (TCF4) G V 358 - Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19386 P15884 (TCF4) M I 450 rs11660217 Benign
19387 P15884 (TCF4) D G 535 - Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19388 P15884 (TCF4) R W 565 - Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19389 P15884 (TCF4) R G 572 - Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19390 P15884 (TCF4) R Q 572 rs1057521070 Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19391 P15884 (TCF4) R H 574 rs121909123 Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19392 P15884 (TCF4) R P 574 rs121909123 Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19393 P15884 (TCF4) R Q 576 rs121909121 Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19394 P15884 (TCF4) R W 576 rs121909120 Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19395 P15884 (TCF4) R H 578 - Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19396 P15884 (TCF4) R P 578 - Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19397 P15884 (TCF4) A P 583 - Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19398 P15884 (TCF4) A V 610 - Disease: Pitt-Hopkins syndrome (PTHS) [MIM:610954]
19399 P15918 (RAG1) A V 156 rs1801203 Benign
19400 P15918 (RAG1) S L 169 rs4151027 Benign
19401 P15918 (RAG1) R G 244 rs199474683 Benign
19402 P15918 (RAG1) R H 247 rs4151029 Benign
19403 P15918 (RAG1) H R 249 rs3740955 Benign
19404 P15918 (RAG1) D E 302 rs4151030 Benign
19405 P15918 (RAG1) R W 314 rs121918568 Disease: Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
19406 P15918 (RAG1) C Y 328 rs121918571 Disease: Omenn syndrome (OS) [MIM:603554]
19407 P15918 (RAG1) R C 396 rs104894289 Disease: Omenn syndrome (OS) [MIM:603554]
19408 P15918 (RAG1) R H 396 rs104894291 Disease: Omenn syndrome (OS) [MIM:603554]
19409 P15918 (RAG1) R L 396 rs104894291 Disease: Omenn syndrome (OS) [MIM:603554]
19410 P15918 (RAG1) S P 401 rs199474682 Disease: Omenn syndrome (OS) [MIM:603554]
19411 P15918 (RAG1) R Q 410 rs199474684 Disease: Omenn syndrome (OS) [MIM:603554]
19412 P15918 (RAG1) D G 429 rs104894292 Disease: Omenn syndrome (OS) [MIM:603554]
19413 P15918 (RAG1) V M 433 rs199474679 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- positive (T(-)B(-)NK( +) SCID) [MIM:601457]
19414 P15918 (RAG1) M V 435 rs141524540 Disease: Omenn syndrome (OS) [MIM:603554]
19415 P15918 (RAG1) A V 444 rs199474685 Disease: Omenn syndrome (OS) [MIM:603554]
19416 P15918 (RAG1) R K 449 rs4151031 Benign
19417 P15918 (RAG1) L Q 454 rs199474677 Disease: Omenn syndrome (OS) [MIM:603554]
19418 P15918 (RAG1) R C 474 rs199474678 Disease: -
19419 P15918 (RAG1) R H 474 rs199474686 Disease: Omenn syndrome (OS) [MIM:603554]
19420 P15918 (RAG1) R W 507 rs104894298 Disease: Omenn syndrome (OS) [MIM:603554]
19421 P15918 (RAG1) W C 522 rs193922461 Disease: Omenn syndrome (OS) [MIM:603554]
19422 P15918 (RAG1) P S 525 rs4151032 Benign
19423 P15918 (RAG1) R S 559 rs199474681 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- positive (T(-)B(-)NK( +) SCID) [MIM:601457]
19424 P15918 (RAG1) R C 561 rs104894285 Disease: Omenn syndrome (OS) [MIM:603554]
19425 P15918 (RAG1) R H 561 rs104894284 Disease: Omenn syndrome (OS) [MIM:603554]
19426 P15918 (RAG1) R C 624 rs199474688 Disease: Omenn syndrome (OS) [MIM:603554]
19427 P15918 (RAG1) R H 624 rs199474680 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- positive (T(-)B(-)NK( +) SCID) [MIM:601457]
19428 P15918 (RAG1) E G 669 rs199474689 Disease: Omenn syndrome (OS) [MIM:603554]
19429 P15918 (RAG1) R W 699 rs199474676 Disease: Omenn syndrome (OS) [MIM:603554]
19430 P15918 (RAG1) E K 722 rs28933392 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- positive (T(-)B(-)NK( +) SCID) [MIM:601457]
19431 P15918 (RAG1) R H 737 rs104894286 Disease: Omenn syndrome (OS) [MIM:603554]
19432 P15918 (RAG1) H L 753 rs199474687 Disease: Omenn syndrome (OS) [MIM:603554]
19433 P15918 (RAG1) R Q 778 rs121918569 Disease: Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
19434 P15918 (RAG1) K R 820 rs2227973 Benign
19435 P15918 (RAG1) R W 841 rs104894287 Disease: Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovi rus infection and autoimmunity (T-CMVA) [MIM:609889]
19436 P15918 (RAG1) N I 855 rs199474690 Disease: -
19437 P15918 (RAG1) E K 880 rs4151033 Benign
19438 P15918 (RAG1) L R 885 rs199474691 Disease: Omenn syndrome (OS) [MIM:603554]
19439 P15918 (RAG1) D N 887 rs4151034 Benign
19440 P15918 (RAG1) Y C 912 rs104894290 Disease: Omenn syndrome (OS) [MIM:603554]
19441 P15918 (RAG1) R Q 975 rs150739647 Disease: Omenn syndrome (OS) [MIM:603554]
19442 P15918 (RAG1) R W 975 rs121918570 Disease: Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
19443 P15918 (RAG1) Q P 981 rs104894288 Disease: Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovi rus infection and autoimmunity (T-CMVA) [MIM:609889]
19444 P15923 (TCF3) L P 120 rs35354874 Benign
19445 P15923 (TCF3) T A 198 rs11879402 Benign
19446 P15923 (TCF3) G S 431 rs1052692 Benign
19447 P15924 (DSP) N K 287 rs121912993 Disease: Skin fragility- woolly hair syndrome (SFWHS) [MIM:607655]
19448 P15924 (DSP) I F 305 rs17604693 Benign
19449 P15924 (DSP) I V 445 rs934142779 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
19450 P15924 (DSP) T I 564 rs606231295 Disease: Cardiomyopat hy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821]
19451 P15924 (DSP) S L 597 rs606231294 Disease: Cardiomyopat hy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821]
19452 P15924 (DSP) R K 1255 rs777407386 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
19453 P15924 (DSP) A V 1505 rs375919492 Benign
19454 P15924 (DSP) Y C 1512 rs2076299 Benign
19455 P15924 (DSP) N K 1526 rs28763966 Benign
19456 P15924 (DSP) R C 1537 rs28763967 Benign
19457 P15924 (DSP) R Q 1738 rs6929069 Benign
19458 P15924 (DSP) E V 1833 rs78652302 Benign
19459 P15924 (DSP) R C 2366 rs28931610 Disease: Skin fragility- woolly hair syndrome (SFWHS) [MIM:607655]
19460 P15924 (DSP) G R 2375 rs376923069 Benign
19461 P15927 (RPA2) Y S 14 rs28988896 Benign
19462 P15927 (RPA2) G R 15 rs28988897 Benign
19463 P15927 (RPA2) N S 203 rs28904899 Benign
19464 P15941 (MUC1) V M 1117 rs1611770 Benign
19465 P15941 (MUC1) S N 1142 rs11465207 Benign
19466 P15976 (GATA1) V M 205 rs104894815 Disease: X-linked dyserythropo ietic anemia and thrombocytop enia (XDAT) [MIM:300367]
19467 P15976 (GATA1) G S 208 rs137852312 Disease: X-linked dyserythropo ietic anemia and thrombocytop enia (XDAT) [MIM:300367]
19468 P15976 (GATA1) R Q 216 rs104894809 Disease: Thrombocytop enia with beta- thalassemia, X-linked (XLTT) [MIM:314050]
19469 P15976 (GATA1) D G 218 rs104894816 Disease: X-linked dyserythropo ietic anemia and thrombocytop enia (XDAT) [MIM:300367]
19470 P15976 (GATA1) D Y 218 rs104894808 Disease: X-linked dyserythropo ietic anemia and thrombocytop enia (XDAT) [MIM:300367]
19471 P16050 (ALOX15) D H 90 rs11568142 Benign
19472 P16050 (ALOX15) G V 102 rs41439950 Benign
19473 P16050 (ALOX15) N K 103 rs11568099 Benign
19474 P16050 (ALOX15) R Q 205 rs11568101 Benign
19475 P16050 (ALOX15) V M 239 rs3892408 Benign
19476 P16050 (ALOX15) A P 461 rs17852628 Benign
19477 P16050 (ALOX15) T M 560 rs34210653 Benign
19478 P16066 (NPR1) A V 182 rs56019647 Benign
19479 P16066 (NPR1) V M 755 rs55837780 Benign
19480 P16066 (NPR1) R Q 939 rs35240348 Benign
19481 P16066 (NPR1) E K 967 rs35479618 Benign
19482 P16070 (CD44) R P 46 rs369473842 Benign
19483 P16070 (CD44) T M 393 rs11607491 Benign
19484 P16070 (CD44) K R 417 rs9666607 Benign
19485 P16070 (CD44) I T 479 rs1467558 Benign
19486 P16070 (CD44) D H 494 rs12273397 Benign
19487 P16083 (NQO2) K R 16 rs28383623 Benign
19488 P16083 (NQO2) E G 29 rs17136117 Benign
19489 P16083 (NQO2) L F 47 rs1143684 Benign
19490 P16083 (NQO2) G D 58 rs17300141 Benign
19491 P16083 (NQO2) V A 184 rs28383651 Benign
19492 P16109 (SELP) G R 179 rs3917718 Benign
19493 P16109 (SELP) V M 209 rs6125 Benign
19494 P16109 (SELP) C F 230 rs3917869 Benign
19495 P16109 (SELP) T I 274 rs3917724 Benign
19496 P16109 (SELP) P L 301 rs6124 Benign
19497 P16109 (SELP) S N 331 rs6131 Benign
19498 P16109 (SELP) M V 365 rs6134 Benign
19499 P16109 (SELP) S L 385 rs3917742 Benign
19500 P16109 (SELP) S F 500 rs6130 Benign
19501 P16109 (SELP) E K 542 rs3917769 Benign
19502 P16109 (SELP) D N 603 rs6127 Benign
19503 P16109 (SELP) S A 619 rs2228672 Benign
19504 P16109 (SELP) G V 631 rs3917812 Benign
19505 P16109 (SELP) L V 640 rs6133 Benign
19506 P16109 (SELP) T N 661 rs3917814 Benign
19507 P16109 (SELP) N S 673 rs3917815 Benign
19508 P16109 (SELP) T P 756 rs6136 Benign
19509 P16112 (ACAN) D E 102 rs16942318 Benign
19510 P16112 (ACAN) R Q 275 rs34949187 Benign
19511 P16112 (ACAN) P L 864 rs3743398 Benign
19512 P16112 (ACAN) P T 913 rs35430524 Benign
19513 P16112 (ACAN) S I 930 rs938608 Benign
19514 P16112 (ACAN) S T 939 rs938609 Benign
19515 P16112 (ACAN) T A 1080 rs373544100 Benign
19516 P16112 (ACAN) T A 1403 rs12899191 Benign
19517 P16112 (ACAN) E A 1508 rs2882676 Benign
19518 P16112 (ACAN) I V 1765 rs4932439 Benign
19519 P16112 (ACAN) P L 2058 rs35061438 Benign
19520 P16112 (ACAN) I V 2079 rs1042630 Benign
19521 P16112 (ACAN) S R 2120 rs34153007 Benign
19522 P16112 (ACAN) D E 2373 rs3817428 Benign
19523 P16112 (ACAN) D N 2381 rs121913568 Disease: Spondyloepim etaphyseal dysplasia, aggrecan type (SEMDAG) [MIM:612813]
19524 P16112 (ACAN) V M 2418 rs779794758 Disease: Short stature and advanced bone age, with or without early-onset osteoarthrit is and/or osteochondri tis dissecans (SSOAOD) [MIM:165800]
19525 P16112 (ACAN) Q R 2500 rs1126823 Benign
19526 P16144 (ITGB4) C R 38 rs121912465 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19527 P16144 (ITGB4) C Y 61 rs80338755 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19528 P16144 (ITGB4) R H 98 rs143114124 Benign
19529 P16144 (ITGB4) D Y 131 - Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19530 P16144 (ITGB4) L P 156 rs121912461 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19531 P16144 (ITGB4) C G 245 - Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19532 P16144 (ITGB4) R C 252 rs201494421 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19533 P16144 (ITGB4) G D 273 rs1476568580 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19534 P16144 (ITGB4) R C 283 rs1422797135 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19535 P16144 (ITGB4) V D 325 rs1304888529 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19536 P16144 (ITGB4) L P 336 - Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19537 P16144 (ITGB4) Q H 478 rs8079267 Benign
19538 P16144 (ITGB4) C R 562 rs121912463 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19539 P16144 (ITGB4) R L 844 rs140819116 Benign
19540 P16144 (ITGB4) G D 931 rs121912466 Disease: Generalized atrophic benign epidermolysi s bullosa (GABEB) [MIM:226650]
19541 P16144 (ITGB4) H Q 1216 rs149284152 Benign
19542 P16144 (ITGB4) R H 1225 rs121912468 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19543 P16144 (ITGB4) R W 1281 rs121912467 Disease: Epidermolysi s bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
19544 P16144 (ITGB4) T S 1764 rs1051486 Benign
19545 P16144 (ITGB4) L P 1779 rs871443 Benign
19546 P16150 (SPN) T I 22 rs2229653 Benign
19547 P16150 (SPN) T A 93 rs2229654 Benign
19548 P16152 (CBR1) V I 88 rs1143663 Benign
19549 P16152 (CBR1) P S 131 rs41557318 Benign
19550 P16157 (ANK1) R T 21 - Benign
19551 P16157 (ANK1) L R 276 - Disease: Spherocytosi s 1 (SPH1) [MIM:182900]
19552 P16157 (ANK1) V I 463 rs140085544 Disease: Spherocytosi s 1 (SPH1) [MIM:182900]
19553 P16157 (ANK1) R H 619 rs2304877 Benign
19554 P16157 (ANK1) L I 733 rs11778936 Benign
19555 P16157 (ANK1) V A 750 - Benign
19556 P16157 (ANK1) R Q 832 rs34523608 Benign
19557 P16157 (ANK1) D E 845 - Benign
19558 P16157 (ANK1) V L 991 rs758454168 Benign
19559 P16157 (ANK1) I T 1054 - Disease: Spherocytosi s 1 (SPH1) [MIM:182900]
19560 P16157 (ANK1) T I 1075 rs35213384 Benign
19561 P16157 (ANK1) A P 1126 rs504465 Benign
19562 P16157 (ANK1) T P 1192 rs486770 Benign
19563 P16157 (ANK1) E D 1286 - Benign
19564 P16157 (ANK1) M V 1325 rs10093583 Benign
19565 P16157 (ANK1) S T 1392 - Benign
19566 P16157 (ANK1) V I 1546 rs1060130 Benign
19567 P16157 (ANK1) D N 1592 rs1457291305 Benign
19568 P16219 (ACADS) R W 46 rs121908003 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19569 P16219 (ACADS) G S 90 rs121908005 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19570 P16219 (ACADS) G C 92 rs121908004 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19571 P16219 (ACADS) R C 107 rs61732144 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19572 P16219 (ACADS) R W 171 rs1800556 Benign
19573 P16219 (ACADS) W R 177 rs57443665 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19574 P16219 (ACADS) A V 192 rs28940874 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19575 P16219 (ACADS) G S 209 rs1799958 Benign
19576 P16219 (ACADS) R W 325 rs121908006 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19577 P16219 (ACADS) S L 353 rs28941773 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19578 P16219 (ACADS) R W 380 rs28940875 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19579 P16219 (ACADS) R H 383 rs35233375 Benign
19580 P16219 (ACADS) R C 383 rs28940872 Disease: Acyl-CoA dehydrogenas e short-chain deficiency (ACADSD) [MIM:201470]
19581 P16220 (CREB1) D G 116 rs387906617 Benign
19582 P16233 (PNLIP) T M 221 rs746000327 Disease: Pancreatic lipase deficiency (PNLIPD) [MIM:614338]
19583 P16234 (PDGFRA) G D 79 rs36035373 Benign
19584 P16234 (PDGFRA) G D 426 rs55865821 Benign
19585 P16234 (PDGFRA) S P 478 rs35597368 Benign
19586 P16234 (PDGFRA) Y C 555 - Disease: GIST-plus syndrome (GISTPS) [MIM:175510]
19587 P16234 (PDGFRA) V D 561 rs121908586 Benign
19588 P16234 (PDGFRA) N K 659 rs1057519700 Benign
19589 P16234 (PDGFRA) R C 764 rs34392012 Benign
19590 P16234 (PDGFRA) D V 842 rs121908585 Benign
19591 P16234 (PDGFRA) D Y 842 rs121913265 Benign
19592 P16234 (PDGFRA) Y C 849 - Disease: Gastrointest inal stromal tumor (GIST) [MIM:606764]
19593 P16278 (GLB1) P L 10 rs7637099 Benign
19594 P16278 (GLB1) R C 49 rs72555358 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19595 P16278 (GLB1) R H 49 rs780523881 Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19596 P16278 (GLB1) I T 51 rs72555390 Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19597 P16278 (GLB1) R C 59 rs756878418 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19598 P16278 (GLB1) R H 59 rs72555392 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19599 P16278 (GLB1) R Q 68 rs572237881 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19600 P16278 (GLB1) R W 68 rs72555370 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19601 P16278 (GLB1) K E 73 - Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19602 P16278 (GLB1) T M 82 rs72555393 Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19603 P16278 (GLB1) Y C 83 rs1553612220 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19604 P16278 (GLB1) Y H 83 rs72555364 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19605 P16278 (GLB1) R W 109 rs35289681 Benign
19606 P16278 (GLB1) R S 121 rs879050821 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19607 P16278 (GLB1) G R 123 rs28934274 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19608 P16278 (GLB1) E Q 129 rs886042079 Benign
19609 P16278 (GLB1) M T 132 rs1553612189 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19610 P16278 (GLB1) G V 134 rs773562141 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19611 P16278 (GLB1) P S 136 rs747305905 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19612 P16278 (GLB1) R C 148 rs192732174 Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19613 P16278 (GLB1) R S 148 rs192732174 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19614 P16278 (GLB1) S F 149 rs778700089 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19615 P16278 (GLB1) D V 151 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19616 P16278 (GLB1) D Y 151 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19617 P16278 (GLB1) L R 155 rs376710410 Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19618 P16278 (GLB1) L S 162 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19619 P16278 (GLB1) L P 173 rs397515617 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19620 P16278 (GLB1) Q R 184 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19621 P16278 (GLB1) G D 190 rs756575833 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19622 P16278 (GLB1) D Y 198 - Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19623 P16278 (GLB1) Y C 199 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19624 P16278 (GLB1) R C 201 rs72555360 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19625 P16278 (GLB1) R H 201 rs189115557 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19626 P16278 (GLB1) R C 208 rs72555366 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19627 P16278 (GLB1) D Y 214 - Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19628 P16278 (GLB1) V A 216 rs886042815 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19629 P16278 (GLB1) L P 236 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19630 P16278 (GLB1) T M 239 rs746766232 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19631 P16278 (GLB1) V M 240 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19632 P16278 (GLB1) Q H 255 rs1553610553 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19633 P16278 (GLB1) G E 262 rs377174858 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19634 P16278 (GLB1) P S 263 - Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19635 P16278 (GLB1) L S 264 - Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19636 P16278 (GLB1) N S 266 rs1214295886 Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19637 P16278 (GLB1) Y D 270 rs376663785 Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19638 P16278 (GLB1) G D 272 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19639 P16278 (GLB1) W L 273 rs72555362 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19640 P16278 (GLB1) H Y 281 rs745386663 Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19641 P16278 (GLB1) L F 297 - Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19642 P16278 (GLB1) F L 314 - Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19643 P16278 (GLB1) Y C 316 rs72555361 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19644 P16278 (GLB1) T I 329 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19645 P16278 (GLB1) D E 332 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19646 P16278 (GLB1) D N 332 rs781658798 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19647 P16278 (GLB1) Y H 333 - Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19648 P16278 (GLB1) L P 337 rs752177002 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19649 P16278 (GLB1) K N 346 rs749980306 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19650 P16278 (GLB1) Y C 347 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19651 P16278 (GLB1) P A 397 - Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19652 P16278 (GLB1) Q P 408 rs72555369 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19653 P16278 (GLB1) G V 414 - Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19654 P16278 (GLB1) T K 420 - Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19655 P16278 (GLB1) T P 420 rs200181401 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19656 P16278 (GLB1) L R 422 rs758203004 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19657 P16278 (GLB1) S L 434 rs267599773 Benign
19658 P16278 (GLB1) L F 436 rs34421970 Benign
19659 P16278 (GLB1) G E 438 rs72555367 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19660 P16278 (GLB1) D N 441 rs780724173 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19661 P16278 (GLB1) R Q 442 rs564428355 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19662 P16278 (GLB1) Y C 444 - Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19663 P16278 (GLB1) R Q 457 rs28934886 Disease: GM1-ganglios idosis 3 (GM1G3) [MIM:230650]
19664 P16278 (GLB1) R C 482 rs72555365 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19665 P16278 (GLB1) R H 482 rs72555391 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19666 P16278 (GLB1) N K 484 rs968221254 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19667 P16278 (GLB1) D N 491 rs780232995 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19668 P16278 (GLB1) D Y 491 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19669 P16278 (GLB1) K N 493 rs1172435886 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19670 P16278 (GLB1) G C 494 rs1312626201 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19671 P16278 (GLB1) G S 494 - Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19672 P16278 (GLB1) T A 500 rs72555368 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19673 P16278 (GLB1) W C 509 rs72555363 Disease: Mucopolysacc haridosis 4B (MPS4B) [MIM:253010]
19674 P16278 (GLB1) L P 514 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19675 P16278 (GLB1) S G 532 rs73826339 Benign
19676 P16278 (GLB1) P L 549 rs776327443 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19677 P16278 (GLB1) K R 578 rs371582179 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19678 P16278 (GLB1) G D 579 rs746350513 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19679 P16278 (GLB1) R C 590 rs794727165 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19680 P16278 (GLB1) R H 590 rs398123351 Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19681 P16278 (GLB1) Y C 591 rs72555371 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19682 P16278 (GLB1) Y N 591 rs72555373 Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19683 P16278 (GLB1) R W 595 rs201807974 Benign
19684 P16278 (GLB1) P L 597 - Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19685 P16278 (GLB1) P S 597 - Disease: GM1-ganglios idosis 1 (GM1G1) [MIM:230500]
19686 P16278 (GLB1) T I 600 - Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19687 P16278 (GLB1) E G 632 - Disease: GM1-ganglios idosis 2 (GM1G2) [MIM:230600]
19688 P16284 (PECAM1) V L 125 rs281865545 Benign
19689 P16284 (PECAM1) C Y 304 rs7209607 Benign
19690 P16284 (PECAM1) S I 563 rs12953 Benign
19691 P16284 (PECAM1) S N 563 rs12953 Benign
19692 P16284 (PECAM1) R G 670 rs1131012 Benign
19693 P16333 (NCK1) A V 180 rs13320485 Benign
19694 P16383 (GCFC2) P A 32 rs7559767 Benign
19695 P16383 (GCFC2) N S 249 rs7560262 Benign
19696 P16383 (GCFC2) Q E 316 rs6742946 Benign
19697 P16383 (GCFC2) T A 594 rs6722682 Benign
19698 P16383 (GCFC2) E D 724 rs17690300 Benign
19699 P16389 (KCNA2) I T 263 rs786205231 Disease: Epileptic encephalopat hy, early infantile, 32 (EIEE32) [MIM:616366]
19700 P16389 (KCNA2) R Q 297 rs786205232 Disease: Epileptic encephalopat hy, early infantile, 32 (EIEE32) [MIM:616366]
19701 P16389 (KCNA2) L F 298 rs876657390 Disease: Epileptic encephalopat hy, early infantile, 32 (EIEE32) [MIM:616366]
19702 P16389 (KCNA2) S T 324 - Disease: -
19703 P16389 (KCNA2) P L 405 rs876657389 Disease: Epileptic encephalopat hy, early infantile, 32 (EIEE32) [MIM:616366]
19704 P16401 (H1-5) K R 144 rs11970638 Benign
19705 P16401 (H1-5) A T 211 rs34144478 Benign
19706 P16402 (H1-3) E K 75 rs2050949 Benign
19707 P16403 (H1-2) A V 18 rs2230653 Benign
19708 P16403 (H1-2) S A 113 rs34810376 Benign
19709 P16403 (H1-2) G A 124 rs12111009 Benign
19710 P16410 (CTLA4) T A 17 rs231775 Benign
19711 P16410 (CTLA4) R W 70 rs606231422 Disease: Autoimmune lymphoprolif erative syndrome 5 (ALPS5) [MIM:616100]
19712 P16415 (ZNF823) R H 566 rs3745663 Benign
19713 P16422 (EPCAM) C Y 66 rs267606785 Disease: Diarrhea 5, with tufting enteropathy, congenital (DIAR5) [MIM:613217]
19714 P16422 (EPCAM) M T 115 rs1126497 Benign
19715 P16435 (POR) Y D 178 - Disease: Disordered steroidogene sis due to cytochrome P450 oxidoreducta se deficiency (DISPORD) [MIM:613571]
19716 P16435 (POR) P L 225 rs782427303 Benign
19717 P16435 (POR) D N 252 - Benign
19718 P16435 (POR) A P 284 - Disease: Disordered steroidogene sis due to cytochrome P450 oxidoreducta se deficiency (DISPORD) [MIM:613571]
19719 P16435 (POR) R H 454 - Disease: Disordered steroidogene sis due to cytochrome P450 oxidoreducta se deficiency (DISPORD) [MIM:613571]
19720 P16435 (POR) V E 489 - Disease: Antley- Bixler syndrome, with genital anomalies and disordered steroidogene sis (ABS1) [MIM:201750]
19721 P16435 (POR) A V 500 rs1057868 Benign
19722 P16435 (POR) R Q 551 - Benign
19723 P16435 (POR) C Y 566 rs72552772 Disease: Disordered steroidogene sis due to cytochrome P450 oxidoreducta se deficiency (DISPORD) [MIM:613571]
19724 P16435 (POR) Y C 575 - Disease: Antley- Bixler syndrome, with genital anomalies and disordered steroidogene sis (ABS1) [MIM:201750]
19725 P16435 (POR) V F 605 - Disease: Disordered steroidogene sis due to cytochrome P450 oxidoreducta se deficiency (DISPORD) [MIM:613571]
19726 P16442 (ABO) G R 35 rs8176696 Benign
19727 P16442 (ABO) V F 36 rs688976 Benign
19728 P16442 (ABO) R H 63 rs549446 Benign
19729 P16442 (ABO) P S 74 rs512770 Benign
19730 P16442 (ABO) P L 156 rs1053878 Benign
19731 P16442 (ABO) R H 161 rs8176738 Benign
19732 P16442 (ABO) T M 163 rs55756402 Benign
19733 P16442 (ABO) R G 176 rs7853989 Benign
19734 P16442 (ABO) R W 198 - Benign
19735 P16442 (ABO) R C 199 rs8176739 Benign
19736 P16442 (ABO) M R 214 - Benign
19737 P16442 (ABO) F I 216 rs8176740 Benign
19738 P16442 (ABO) E D 223 - Benign
19739 P16442 (ABO) P A 234 - Benign
19740 P16442 (ABO) G S 235 rs8176743 Benign
19741 P16442 (ABO) P L 257 rs8176745 Benign
19742 P16442 (ABO) L M 266 rs8176746 Benign
19743 P16442 (ABO) G A 268 rs8176747 Benign
19744 P16442 (ABO) G R 268 rs41302905 Benign
19745 P16442 (ABO) V M 277 rs8176748 Benign
19746 P16442 (ABO) M R 288 - Benign
19747 P16442 (ABO) D N 291 - Benign
19748 P16442 (ABO) K M 346 - Benign
19749 P16442 (ABO) R G 352 - Benign
19750 P16442 (ABO) R W 352 - Benign
19751 P16444 (DPEP1) E K 351 rs1126464 Benign
19752 P16444 (DPEP1) E Q 351 rs1126464 Benign
19753 P16452 (EPB42) A T 112 rs104894487 Disease: Spherocytosi s 5 (SPH5) [MIM:612690]
19754 P16452 (EPB42) D Y 145 rs143682977 Disease: Spherocytosi s 5 (SPH5) [MIM:612690]
19755 P16452 (EPB42) R Q 280 rs121917734 Disease: Spherocytosi s 5 (SPH5) [MIM:612690]
19756 P16452 (EPB42) R C 287 rs515726212 Disease: Spherocytosi s 5 (SPH5) [MIM:612690]
19757 P16455 (MGMT) E K 30 rs2020893 Benign
19758 P16455 (MGMT) L F 53 rs12917 Benign
19759 P16455 (MGMT) P S 58 rs2308322 Benign
19760 P16455 (MGMT) W C 65 rs2282164 Benign
19761 P16455 (MGMT) L F 84 rs12917 Benign
19762 P16455 (MGMT) I V 112 rs2308321 Benign
19763 P16455 (MGMT) I V 143 rs2308321 Benign
19764 P16455 (MGMT) G R 160 rs2308318 Benign
19765 P16455 (MGMT) E D 166 rs2308320 Benign
19766 P16455 (MGMT) K R 178 rs2308327 Benign
19767 P16471 (PRLR) I V 100 rs2228482 Benign
19768 P16471 (PRLR) I L 170 rs72478580 Disease: Multiple fibroadenoma s of the breast (MFAB) [MIM:615554]
19769 P16471 (PRLR) H R 212 rs398122522 Disease: Hyperprolact inemia (HPRL) [MIM:615555]
19770 P16473 (TSHR) E K 34 rs45499704 Benign
19771 P16473 (TSHR) D H 36 rs61747482 Benign
19772 P16473 (TSHR) C S 41 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19773 P16473 (TSHR) P T 52 rs2234919 Benign
19774 P16473 (TSHR) R Q 109 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19775 P16473 (TSHR) P A 162 rs121908863 Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19776 P16473 (TSHR) I N 167 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19777 P16473 (TSHR) K R 183 - Disease: Familial gestational hyperthyroid ism (HTFG) [MIM:603373]
19778 P16473 (TSHR) L P 252 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19779 P16473 (TSHR) S N 281 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19780 P16473 (TSHR) R C 310 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19781 P16473 (TSHR) C W 390 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19782 P16473 (TSHR) D N 410 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19783 P16473 (TSHR) G S 431 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19784 P16473 (TSHR) N D 432 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19785 P16473 (TSHR) P L 449 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19786 P16473 (TSHR) R H 450 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19787 P16473 (TSHR) M T 453 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19788 P16473 (TSHR) M V 463 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19789 P16473 (TSHR) L P 467 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19790 P16473 (TSHR) T I 477 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19791 P16473 (TSHR) I F 486 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19792 P16473 (TSHR) I M 486 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19793 P16473 (TSHR) G S 498 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19794 P16473 (TSHR) S N 505 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19795 P16473 (TSHR) S R 505 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19796 P16473 (TSHR) V A 509 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19797 P16473 (TSHR) F L 525 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19798 P16473 (TSHR) R H 528 - Benign
19799 P16473 (TSHR) A T 553 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19800 P16473 (TSHR) I T 568 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19801 P16473 (TSHR) V F 597 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19802 P16473 (TSHR) C R 600 - Disease: Hypothyroidi sm, congenital, non- goitrous, 1 (CHNG1) [MIM:275200]
19803 P16473 (TSHR) I M 606 - Benign
19804 P16473 (TSHR) L F 629 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19805 P16473 (TSHR) F L 631 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19806 P16473 (TSHR) T A 632 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19807 P16473 (TSHR) T I 632 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19808 P16473 (TSHR) D H 633 rs28937584 Benign
19809 P16473 (TSHR) D E 633 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19810 P16473 (TSHR) P S 639 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19811 P16473 (TSHR) A V 647 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19812 P16473 (TSHR) N Y 650 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19813 P16473 (TSHR) N S 670 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19814 P16473 (TSHR) C Y 672 - Disease: Hyperthyroid ism, non- autoimmune (HTNA) [MIM:609152]
19815 P16473 (TSHR) A G 703 - Benign
19816 P16473 (TSHR) Q E 720 - Benign
19817 P16473 (TSHR) D E 727 rs1991517 Benign
19818 P16499 (PDE6A) R H 102 rs750539462 Disease: Retinitis pigmentosa 43 (RP43) [MIM:613810]
19819 P16499 (PDE6A) R S 102 rs141252097 Disease: Retinitis pigmentosa 43 (RP43) [MIM:613810]
19820 P16499 (PDE6A) A T 145 rs35431421 Benign
19821 P16499 (PDE6A) N S 216 rs10057110 Benign
19822 P16499 (PDE6A) V A 277 rs145608358 Benign
19823 P16499 (PDE6A) P L 293 rs114973968 Benign
19824 P16499 (PDE6A) S R 344 rs121918577 Disease: Retinitis pigmentosa 43 (RP43) [MIM:613810]
19825 P16499 (PDE6A) V M 391 rs61732059 Benign
19826 P16499 (PDE6A) Q H 492 rs17711594 Benign
19827 P16499 (PDE6A) Q K 569 rs139444207 Disease: Retinitis pigmentosa 43 (RP43) [MIM:613810]
19828 P16499 (PDE6A) S P 573 rs755527251 Disease: Retinitis pigmentosa 43 (RP43) [MIM:613810]
19829 P16499 (PDE6A) K Q 827 rs780450680 Benign
19830 P16499 (PDE6A) G V 850 rs138315990 Benign
19831 P16519 (PCSK2) A D 77 rs201718679 Benign
19832 P16519 (PCSK2) P Q 244 rs17854040 Benign
19833 P16519 (PCSK2) A T 267 rs144151196 Benign
19834 P16519 (PCSK2) R W 430 rs200711626 Benign
19835 P16519 (PCSK2) K E 484 rs17857236 Benign
19836 P16519 (PCSK2) M V 525 rs139619496 Benign
19837 P16520 (GNB3) V M 40 rs45569331 Benign
19838 P16520 (GNB3) D N 76 rs2234756 Benign
19839 P16520 (GNB3) V M 81 rs45616032 Benign
19840 P16520 (GNB3) G S 272 rs5442 Benign
19841 P16520 (GNB3) L F 280 rs28395776 Benign
19842 P16520 (GNB3) G E 324 rs28395775 Benign
19843 P16520 (GNB3) W L 339 rs5444 Benign
19844 P16562 (CRISP2) N S 131 rs34457011 Benign
19845 P16581 (SELE) A S 21 rs3917407 Benign
19846 P16581 (SELE) M I 31 rs3917408 Benign
19847 P16581 (SELE) C W 130 rs5360 Benign
19848 P16581 (SELE) S R 149 rs5361 Benign
19849 P16581 (SELE) Q P 257 rs3917422 Benign
19850 P16581 (SELE) E K 295 rs5364 Benign
19851 P16581 (SELE) E Q 421 rs5366 Benign
19852 P16581 (SELE) H Y 468 rs5368 Benign
19853 P16581 (SELE) P L 545 - Benign
19854 P16581 (SELE) P S 550 rs3917429 Benign
19855 P16581 (SELE) L F 575 rs5355 Benign
19856 P16591 (FER) V F 128 rs35150210 Benign
19857 P16591 (FER) M V 412 rs33940843 Benign
19858 P16591 (FER) L V 439 rs2229086 Benign
19859 P16591 (FER) A P 443 rs34259824 Benign
19860 P16591 (FER) I T 507 rs34204308 Benign
19861 P16591 (FER) E Q 813 rs56097357 Benign
19862 P16615 (ATP2A2) G E 23 rs28929478 Disease: Darier disease (DD) [MIM:124200]
19863 P16615 (ATP2A2) N T 39 - Disease: Darier disease (DD) [MIM:124200]
19864 P16615 (ATP2A2) L S 65 - Disease: Darier disease (DD) [MIM:124200]
19865 P16615 (ATP2A2) N S 101 - Disease: Darier disease (DD) [MIM:124200]
19866 P16615 (ATP2A2) R Q 131 rs121912738 Disease: Darier disease (DD) [MIM:124200]
19867 P16615 (ATP2A2) P L 160 - Disease: Darier disease (DD) [MIM:124200]
19868 P16615 (ATP2A2) S P 186 - Disease: Darier disease (DD) [MIM:124200]
19869 P16615 (ATP2A2) G D 211 - Disease: Darier disease (DD) [MIM:124200]
19870 P16615 (ATP2A2) V M 223 - Disease: Darier disease (DD) [MIM:124200]
19871 P16615 (ATP2A2) C F 268 rs121912733 Disease: Darier disease (DD) [MIM:124200]
19872 P16615 (ATP2A2) G V 310 - Disease: Darier disease (DD) [MIM:124200]
19873 P16615 (ATP2A2) C R 318 - Disease: Darier disease (DD) [MIM:124200]
19874 P16615 (ATP2A2) I T 348 - Disease: Darier disease (DD) [MIM:124200]
19875 P16615 (ATP2A2) T K 357 - Disease: Darier disease (DD) [MIM:124200]
19876 P16615 (ATP2A2) E G 412 - Disease: Darier disease (DD) [MIM:124200]
19877 P16615 (ATP2A2) S F 495 - Disease: Darier disease (DD) [MIM:124200]
19878 P16615 (ATP2A2) C R 560 rs121912734 Disease: Darier disease (DD) [MIM:124200]
19879 P16615 (ATP2A2) L P 590 - Disease: Darier disease (DD) [MIM:124200]
19880 P16615 (ATP2A2) P L 602 rs121912737 Disease: Acrokeratosi s verruciformi s (AKV) [MIM:101900]
19881 P16615 (ATP2A2) G A 625 - Disease: Darier disease (DD) [MIM:124200]
19882 P16615 (ATP2A2) D E 626 - Disease: Darier disease (DD) [MIM:124200]
19883 P16615 (ATP2A2) A P 672 - Disease: Darier disease (DD) [MIM:124200]
19884 P16615 (ATP2A2) F S 675 - Disease: Darier disease (DD) [MIM:124200]
19885 P16615 (ATP2A2) K E 683 - Disease: Darier disease (DD) [MIM:124200]
19886 P16615 (ATP2A2) Q P 691 - Disease: Darier disease (DD) [MIM:124200]
19887 P16615 (ATP2A2) D N 702 - Disease: Darier disease (DD) [MIM:124200]
19888 P16615 (ATP2A2) A D 745 - Disease: Darier disease (DD) [MIM:124200]
19889 P16615 (ATP2A2) G R 749 - Disease: Darier disease (DD) [MIM:124200]
19890 P16615 (ATP2A2) R W 750 - Disease: Darier disease (DD) [MIM:124200]
19891 P16615 (ATP2A2) S L 765 - Disease: Darier disease (DD) [MIM:124200]
19892 P16615 (ATP2A2) S W 765 - Disease: Darier disease (DD) [MIM:124200]
19893 P16615 (ATP2A2) N S 767 rs121912732 Disease: Darier disease (DD) [MIM:124200]
19894 P16615 (ATP2A2) G R 769 rs121912736 Disease: Darier disease (DD) [MIM:124200]
19895 P16615 (ATP2A2) A T 803 - Disease: Darier disease (DD) [MIM:124200]
19896 P16615 (ATP2A2) A P 838 - Disease: Darier disease (DD) [MIM:124200]
19897 P16615 (ATP2A2) V F 843 - Disease: Darier disease (DD) [MIM:124200]
19898 P16615 (ATP2A2) C G 875 - Disease: Darier disease (DD) [MIM:124200]
19899 P16615 (ATP2A2) L P 900 - Disease: Darier disease (DD) [MIM:124200]
19900 P16615 (ATP2A2) S Y 920 - Disease: Darier disease (DD) [MIM:124200]
19901 P16615 (ATP2A2) H R 943 - Disease: Darier disease (DD) [MIM:124200]
19902 P16615 (ATP2A2) P R 975 - Disease: Darier disease (DD) [MIM:124200]
19903 P16662 (UGT2B7) A S 71 rs12233719 Benign
19904 P16662 (UGT2B7) Y H 268 rs7439366 Benign
19905 P16662 (UGT2B7) N S 378 rs35590824 Benign
19906 P16671 (CD36) P S 90 rs75326924 Disease: Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
19907 P16671 (CD36) E K 123 rs183461468 Benign
19908 P16671 (CD36) S L 127 rs201765331 Benign
19909 P16671 (CD36) V F 154 rs5957 Benign
19910 P16671 (CD36) T A 174 rs756525492 Benign
19911 P16671 (CD36) F L 254 rs142186404 Disease: Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
19912 P16671 (CD36) I T 271 rs370072057 Benign
19913 P16671 (CD36) R W 386 rs148910227 Benign
19914 P16671 (CD36) I L 413 rs121918035 Disease: Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
19915 P16671 (CD36) T I 470 rs200771788 Benign
19916 P16860 (NPPB) R L 25 rs5227 Benign
19917 P16860 (NPPB) R H 47 rs5229 Benign
19918 P16860 (NPPB) M L 93 rs5230 Benign
19919 P16870 (CPE) W R 235 rs34516004 Benign
19920 P16871 (IL7R) I T 66 rs1494558 Benign
19921 P16871 (IL7R) E D 113 rs11567735 Benign
19922 P16871 (IL7R) P S 132 rs104893894 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- positive/NK- cell- positive (T(-)B(+)NK( +) SCID) [MIM:608971]
19923 P16871 (IL7R) V I 138 rs1494555 Benign
19924 P16871 (IL7R) T I 244 rs6897932 Benign
19925 P16871 (IL7R) I V 356 rs3194051 Benign
19926 P16871 (IL7R) T M 414 rs2229232 Benign
19927 P16885 (PLCG2) H R 244 rs11548656 Benign
19928 P16885 (PLCG2) R W 268 rs1143687 Benign
19929 P16885 (PLCG2) T A 541 rs11548657 Benign
19930 P16885 (PLCG2) S Y 707 rs397514562 Disease: Autoinflamma tion, antibody deficiency, and immune dysregulatio n PLCG2-associ ated (APLAID) [MIM:614878]
19931 P16885 (PLCG2) D Y 883 rs17856213 Benign
19932 P16930 (FAH) N I 16 rs121965073 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19933 P16930 (FAH) A T 35 - Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19934 P16930 (FAH) F C 62 - Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19935 P16930 (FAH) Q H 64 rs80338894 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19936 P16930 (FAH) A D 134 rs121965074 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19937 P16930 (FAH) G D 158 - Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19938 P16930 (FAH) V G 166 rs778387055 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19939 P16930 (FAH) C R 193 - Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19940 P16930 (FAH) G D 207 rs754196530 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19941 P16930 (FAH) D V 233 rs80338897 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19942 P16930 (FAH) W G 234 rs1555441595 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19943 P16930 (FAH) P T 249 - Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19944 P16930 (FAH) P L 261 rs80338898 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19945 P16930 (FAH) Q R 279 rs121965078 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19946 P16930 (FAH) T P 294 rs370634385 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19947 P16930 (FAH) G S 337 rs80338900 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19948 P16930 (FAH) R W 341 rs11555096 Benign
19949 P16930 (FAH) P L 342 rs779040832 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19950 P16930 (FAH) G V 369 - Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19951 P16930 (FAH) R G 381 rs121965077 Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19952 P16930 (FAH) F H 405 - Disease: Tyrosinemia 1 (TYRSN1) [MIM:276700]
19953 P16989 (YBX3) T A 75 rs1126501 Benign
19954 P17017 (ZNF14) T S 274 rs12973901 Benign
19955 P17017 (ZNF14) R Q 379 rs3752153 Benign
19956 P17019 (ZNF708) A V 7 rs547516 Benign
19957 P17019 (ZNF708) K E 49 rs1781873 Benign
19958 P17019 (ZNF708) K T 58 rs1781872 Benign
19959 P17019 (ZNF708) R Q 66 rs504280 Benign
19960 P17020 (ZNF16) E K 105 rs3735784 Benign
19961 P17020 (ZNF16) R H 227 rs3735786 Benign
19962 P17021 (ZNF17) T K 148 rs2014827 Benign
19963 P17022 (ZNF18) Q R 210 rs17857095 Benign
19964 P17022 (ZNF18) M I 240 rs17853545 Benign
19965 P17023 (ZNF19) Q H 218 rs8050871 Benign
19966 P17023 (ZNF19) R Q 224 rs10500557 Benign
19967 P17026 (ZNF22) S G 65 rs3740093 Benign
19968 P17027 (ZNF23) S G 28 rs2070832 Benign
19969 P17028 (ZNF24) N S 220 rs2032729 Benign
19970 P17028 (ZNF24) G W 331 rs3568 Benign
19971 P17029 (ZKSCAN1) V A 26 rs17851996 Benign
19972 P17030 (ZNF25) N K 453 rs1208606 Benign
19973 P17032 (ZNF37A) D N 105 rs2021319 Benign
19974 P17035 (ZNF28) R G 179 rs13382164 Benign
19975 P17035 (ZNF28) K Q 465 rs10417163 Benign
19976 P17035 (ZNF28) M T 524 rs8107444 Benign
19977 P17036 (ZNF3) I T 102 rs11550034 Benign
19978 P17038 (ZNF43) S P 718 rs1063327 Benign
19979 P17039 (ZNF30) Q R 123 rs1811 Benign
19980 P17039 (ZNF30) A T 190 rs8100497 Benign
19981 P17039 (ZNF30) R K 379 rs1345658 Benign
19982 P17039 (ZNF30) Y C 400 rs765746 Benign
19983 P17040 (ZSCAN20) D N 248 rs34446695 Benign
19984 P17040 (ZSCAN20) Y D 432 rs4403594 Benign
19985 P17050 (NAGA) S C 160 rs121434532 Disease: Schindler disease (SCHIND) [MIM:609241]
19986 P17050 (NAGA) E K 325 rs121434529 Disease: Schindler disease (SCHIND) [MIM:609241]
19987 P17050 (NAGA) R Q 329 rs121434533 Disease: Kanzaki disease (KANZD) [MIM:609242]
19988 P17050 (NAGA) R W 329 rs121434530 Disease: Kanzaki disease (KANZD) [MIM:609242]
19989 P17066 (HSPA6) P T 65 rs41297698 Benign
19990 P17066 (HSPA6) R Q 95 rs400835 Benign
19991 P17066 (HSPA6) A T 150 rs10919224 Benign
19992 P17066 (HSPA6) N S 153 rs10919225 Benign
19993 P17066 (HSPA6) D N 154 rs10919226 Benign
19994 P17066 (HSPA6) A V 159 rs41297702 Benign
19995 P17066 (HSPA6) N K 170 rs41297704 Benign
19996 P17066 (HSPA6) R P 173 rs41297708 Benign
19997 P17066 (HSPA6) P A 178 rs41297710 Benign
19998 P17066 (HSPA6) E K 194 rs41297714 Benign
19999 P17066 (HSPA6) L F 198 rs1079109 Benign
20000 P17066 (HSPA6) R H 260 rs41299256 Benign

Reference

  • Jaie Woodard, Chengxin Zhang, and Yang Zhang (2020) ADDRESS: A database of human disease-associated variants incorporating protein structure, binding and folding stabilities.

    • zhanglabzhanggroup.org | +65-6601-1241 | Computing 1, 13 Computing Drive, Singapore 117417