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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]
1 A0A087X1C5 (CYP2D7) S N 70 rs11090077 Benign
2 A0A087X1C5 (CYP2D7) S L 311 rs1800754 Benign
3 A0A087X1C5 (CYP2D7) H R 383 rs56127449 Benign
4 A0A087X1C5 (CYP2D7) K E 428 rs2070907 Benign
5 A0A0A6YYL3 (POTEB) E Q 249 rs2445603 Benign
6 A0A0A6YYL3 (POTEB) L S 492 - Benign
7 A0A0A6YYL3 (POTEB) K M 498 rs1340702692 Benign
8 A0A0A6YYL3 (POTEB) T A 531 rs1269910098 Benign
9 A0A0C4DH32 (IGHV3-20) C F 41 - Benign
10 A0AV02 (SLC12A8) R C 181 rs2993631 Benign
11 A0AV02 (SLC12A8) L P 266 rs863642 Benign
12 A0AV02 (SLC12A8) I V 281 rs621383 Benign
13 A0AV02 (SLC12A8) K R 541 rs6773138 Benign
14 A0AV02 (SLC12A8) R Q 664 rs2981482 Benign
15 A0AV96 (RBM47) G R 538 rs35529250 Benign
16 A0AV96 (RBM47) M V 565 rs278981 Benign
17 A0AVF1 (TTC26) D N 310 rs13225917 Benign
18 A0AVI2 (FER1L5) I T 354 rs4907201 Benign
19 A0AVI2 (FER1L5) T A 687 rs7599598 Benign
20 A0AVI4 (TMEM129) L I 83 rs798752 Benign
21 A0AVK6 (E2F8) I V 674 rs793274 Benign
22 A0AVT1 (UBA6) A T 224 rs10010188 Benign
23 A0FGR8 (ESYT2) C S 210 rs13233513 Benign
24 A0FGR8 (ESYT2) S G 638 rs2305473 Benign
25 A0FGR9 (ESYT3) P Q 246 rs17857138 Benign
26 A0FGR9 (ESYT3) G R 416 rs6772467 Benign
27 A0FGR9 (ESYT3) G R 590 rs10935282 Benign
28 A0FGR9 (ESYT3) T S 662 rs35537868 Benign
29 A0JNW5 (UHRF1BP1L) M L 1111 rs58214704 Benign
30 A0JNW5 (UHRF1BP1L) S L 1147 rs7296162 Benign
31 A0JNW5 (UHRF1BP1L) I V 1175 rs17029945 Benign
32 A0JP26 (POTEB3) H D 30 rs200845208 Benign
33 A0JP26 (POTEB3) M V 43 rs2605913 Benign
34 A0JP26 (POTEB3) N D 88 rs2458862 Benign
35 A0JP26 (POTEB3) D G 203 - Benign
36 A0JP26 (POTEB3) Q E 286 rs2445603 Benign
37 A0JP26 (POTEB3) K E 511 rs1949282 Benign
38 A0JP26 (POTEB3) M K 535 rs1828869 Benign
39 A0JP26 (POTEB3) A T 568 rs1828868 Benign
40 A0M8Q6 (IGLC7) N Y 34 - Benign
41 A0PG75 (PLSCR5) R S 110 rs12107687 Benign
42 A0PJK1 (SLC5A10) A V 522 rs12604020 Benign
43 A0PJW6 (TMEM223) T A 28 rs2584918 Benign
44 A0PJW6 (TMEM223) V G 196 rs11827177 Benign
45 A0PJW8 (DAPL1) L P 60 rs9869 Benign
46 A0PJW8 (DAPL1) A T 66 rs12535 Benign
47 A0PJX0 (CIB4) H R 181 rs935172 Benign
48 A0PJX2 (TLDC2) G R 102 rs3748460 Benign
49 A0PJX4 (SHISA3) W C 13 rs11733156 Benign
50 A0PJX8 (TMEM82) R H 284 rs11580250 Benign
51 A0PJY2 (FEZF1) H Y 278 rs587777739 Disease: Hypogonadotr opic hypogonadism 22 with or without anosmia (HH22) [MIM:616030]
52 A0PK11 (CLRN2) L V 113 rs13147559 Benign
53 A0PK11 (CLRN2) A T 153 rs2597791 Benign
54 A1A4F0 (SLC66A1L) V L 4 rs7616293 Benign
55 A1A4S6 (ARHGAP10) P S 488 rs17024215 Benign
56 A1A4S6 (ARHGAP10) M V 684 rs2276932 Benign
57 A1A4Y4 (IRGM) E D 17 rs180802994 Benign
58 A1A4Y4 (IRGM) T K 94 rs72553867 Benign
59 A1A519 (FAM170A) P S 173 rs328694 Benign
60 A1A5B4 (ANO9) L F 93 rs7395065 Benign
61 A1A5B4 (ANO9) I V 391 rs10794324 Benign
62 A1A5B4 (ANO9) C R 399 rs10794323 Benign
63 A1A5D9 (BICDL2) Q E 55 rs7204908 Benign
64 A1A5D9 (BICDL2) Q R 273 rs2244494 Benign
65 A1E959 (ODAM) I T 222 rs3196714 Benign
66 A1IGU5 (ARHGEF37) M L 421 rs4629585 Benign
67 A1IGU5 (ARHGEF37) P L 489 rs9324624 Benign
68 A1IGU5 (ARHGEF37) S R 518 rs7732714 Benign
69 A1IGU5 (ARHGEF37) P T 586 rs3733662 Benign
70 A1IGU5 (ARHGEF37) M V 604 rs1135093 Benign
71 A1KZ92 (PXDNL) I T 343 rs7833909 Benign
72 A1KZ92 (PXDNL) R Q 583 rs16916235 Benign
73 A1KZ92 (PXDNL) D A 616 rs16916207 Benign
74 A1KZ92 (PXDNL) M V 981 rs2977020 Benign
75 A1KZ92 (PXDNL) V D 1327 rs11774588 Benign
76 A1KZ92 (PXDNL) R K 1399 rs7827446 Benign
77 A1KZ92 (PXDNL) D E 1452 rs1052704 Benign
78 A1L0T0 (ILVBL) N D 374 rs17856373 Benign
79 A1L0T0 (ILVBL) R Q 510 rs35548653 Benign
80 A1L157 (TSPAN11) V A 190 rs2075333 Benign
81 A1L190 (SYCE3) L P 88 rs6009989 Benign
82 A1L390 (PLEKHG3) R H 1014 rs41309246 Benign
83 A1L390 (PLEKHG3) R W 1036 rs229649 Benign
84 A1L443 (NUTM2F) S C 137 rs202099818 Benign
85 A1L443 (NUTM2F) R G 176 rs190275133 Benign
86 A1L453 (PRSS38) M V 204 rs9426581 Benign
87 A1L4K1 (FSD2) K T 333 rs4779061 Benign
88 A1L4K1 (FSD2) E K 720 rs1108134 Benign
89 A1L4L8 (PLAC8L1) C S 11 rs12187913 Benign
90 A1X283 (SH3PXD2B) R W 43 rs267607046 Disease: Frank-Ter Haar syndrome (FTHS) [MIM:249420]
91 A1X283 (SH3PXD2B) Y F 101 rs6880739 Benign
92 A1XBS5 (FAM92A) R Q 222 rs36117362 Benign
93 A1Z1Q3 (MACROD2) T I 58 rs2990505 Benign
94 A1Z1Q3 (MACROD2) T M 335 rs41275442 Benign
95 A2A288 (ZC3H12D) P L 53 rs7747948 Benign
96 A2A2Y4 (FRMD3) D Y 485 rs4877747 Benign
97 A2A368 (MAGEB16) L F 38 rs1410961 Benign
98 A2A368 (MAGEB16) C Y 128 rs1410962 Benign
99 A2A368 (MAGEB16) H R 161 rs5973488 Benign
100 A2A368 (MAGEB16) M K 248 rs4829391 Benign
101 A2A368 (MAGEB16) M V 248 rs4829390 Benign
102 A2A3K4 (PTPDC1) L Q 571 rs16909677 Benign
103 A2A3L6 (TTC24) E G 231 rs6682716 Benign
104 A2A3L6 (TTC24) P A 532 rs17392348 Benign
105 A2A3L6 (TTC24) N S 550 rs12090808 Benign
106 A2CJ06 (DYTN) Y C 241 rs16838593 Benign
107 A2CJ06 (DYTN) Q K 474 rs2115591 Benign
108 A2IDD5 (CCDC78) W R 252 rs2071950 Benign
109 A2PYH4 (HFM1) S P 115 rs11165778 Benign
110 A2PYH4 (HFM1) I V 117 rs282009 Benign
111 A2PYH4 (HFM1) G S 736 rs587777269 Disease: Premature ovarian failure 9 (POF9) [MIM:615724]
112 A2PYH4 (HFM1) I S 884 rs587777268 Disease: Premature ovarian failure 9 (POF9) [MIM:615724]
113 A2PYH4 (HFM1) I V 939 rs11584478 Benign
114 A2RRH5 (WDR27) L P 133 rs4236176 Benign
115 A2RRH5 (WDR27) V L 393 rs35895089 Benign
116 A2RRH5 (WDR27) R H 437 rs3800544 Benign
117 A2RRH5 (WDR27) P L 470 rs34313252 Benign
118 A2RRH5 (WDR27) A V 697 rs9396946 Benign
119 A2RRP1 (NBAS) Q E 44 rs77081203 Benign
120 A2RRP1 (NBAS) A V 95 - Disease: -
121 A2RRP1 (NBAS) R W 137 rs368085185 Disease: -
122 A2RRP1 (NBAS) I V 243 rs13029846 Benign
123 A2RRP1 (NBAS) P S 348 - Disease: Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
124 A2RRP1 (NBAS) W R 396 - Disease: -
125 A2RRP1 (NBAS) K R 655 rs4668909 Benign
126 A2RRP1 (NBAS) P H 777 - Disease: Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
127 A2RRP1 (NBAS) V F 842 rs1085307944 Disease: Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
128 A2RRP1 (NBAS) L R 903 rs368196005 Disease: Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
129 A2RRP1 (NBAS) V L 949 rs74727069 Benign
130 A2RRP1 (NBAS) I S 984 rs140841721 Disease: Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
131 A2RRP1 (NBAS) R Q 1004 rs16862653 Benign
132 A2RRP1 (NBAS) C S 1009 rs74411619 Benign
133 A2RRP1 (NBAS) L P 1055 rs796052121 Disease: Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
134 A2RRP1 (NBAS) S N 1178 rs35770368 Benign
135 A2RRP1 (NBAS) R H 1914 rs369698072 Disease: Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) [MIM:614800]
136 A2RRP1 (NBAS) A T 2074 rs6710817 Benign
137 A2RTY3 (HEATR9) S F 480 rs2306630 Benign
138 A2RU30 (TESPA1) E K 496 rs997173 Benign
139 A2RU48 (SMCO3) C R 49 rs11609202 Benign
140 A2RU48 (SMCO3) K R 75 rs2241221 Benign
141 A2RUB1 (MEIOC) M L 311 rs8073475 Benign
142 A2RUB1 (MEIOC) N T 320 rs9907151 Benign
143 A2RUB6 (CCDC66) Q R 383 rs1491170 Benign
144 A2RUB6 (CCDC66) R Q 460 rs7637449 Benign
145 A2RUB6 (CCDC66) E K 592 rs4681904 Benign
146 A2RUB6 (CCDC66) E Q 592 rs4681904 Benign
147 A2RUB6 (CCDC66) C Y 681 rs758090911 Benign
148 A2RUC4 (TYW5) S G 50 rs10497844 Benign
149 A2RUH7 (MYBPHL) D N 269 rs629001 Benign
150 A2RUQ5 (C17orf102) G R 98 rs58529418 Benign
151 A2RUQ5 (C17orf102) R K 155 rs887230 Benign
152 A2RUS2 (DENND3) S N 143 rs307761 Benign
153 A2RUS2 (DENND3) Q R 364 rs11997191 Benign
154 A2RUT3 (TMEM89) P T 61 rs9834639 Benign
155 A2RUU4 (CLPSL1) F S 15 rs34109614 Benign
156 A2VDJ0 (TMEM131L) I V 604 rs7669418 Benign
157 A2VDJ0 (TMEM131L) M T 645 rs17370297 Benign
158 A2VDJ0 (TMEM131L) S Y 1110 rs755078 Benign
159 A2VDJ0 (TMEM131L) N S 1254 rs35018723 Benign
160 A2VDJ0 (TMEM131L) A P 1392 rs35543386 Benign
161 A2VEC9 (SSPOP) Q R 146 rs709061 Benign
162 A2VEC9 (SSPOP) V M 298 rs17754559 Benign
163 A2VEC9 (SSPOP) V M 540 rs855677 Benign
164 A2VEC9 (SSPOP) S P 1273 rs709060 Benign
165 A2VEC9 (SSPOP) L P 1274 rs709060 Benign
166 A2VEC9 (SSPOP) S G 1425 rs855691 Benign
167 A2VEC9 (SSPOP) P Q 1449 rs855692 Benign
168 A2VEC9 (SSPOP) P R 1454 rs2074704 Benign
169 A2VEC9 (SSPOP) S P 1779 rs893601 Benign
170 A2VEC9 (SSPOP) L P 1794 rs1635802 Benign
171 A2VEC9 (SSPOP) R C 1883 rs1076277 Benign
172 A2VEC9 (SSPOP) T M 2018 rs4725314 Benign
173 A2VEC9 (SSPOP) M T 2453 rs2074689 Benign
174 A2VEC9 (SSPOP) R Q 2542 rs59522380 Benign
175 A2VEC9 (SSPOP) L V 2892 rs10260959 Benign
176 A2VEC9 (SSPOP) R W 3274 rs740109 Benign
177 A2VEC9 (SSPOP) N S 3513 rs10952230 Benign
178 A2VEC9 (SSPOP) C W 3894 rs1557955 Benign
179 A2VEC9 (SSPOP) R C 3911 rs745044 Benign
180 A2VEC9 (SSPOP) S I 4030 rs1005603 Benign
181 A2VEC9 (SSPOP) Q H 4109 rs12536873 Benign
182 A2VEC9 (SSPOP) H R 4166 rs10233245 Benign
183 A2VEC9 (SSPOP) R C 4332 rs1008336 Benign
184 A2VEC9 (SSPOP) H R 4790 rs1004200 Benign
185 A2VEC9 (SSPOP) E K 4944 rs12534509 Benign
186 A3KMH1 (VWA8) R H 165 rs9562362 Benign
187 A3KMH1 (VWA8) M T 383 rs3742262 Benign
188 A3KMH1 (VWA8) G R 408 rs17062601 Benign
189 A3KMH1 (VWA8) R G 660 rs9562353 Benign
190 A3KMH1 (VWA8) R K 898 rs41288291 Benign
191 A3KMH1 (VWA8) E K 1300 rs2274810 Benign
192 A3KN83 (SBNO1) S N 728 rs1060105 Benign
193 A3KN83 (SBNO1) S N 729 rs1060105 Benign
194 A4D0S4 (LAMB4) M T 44 rs35644375 Benign
195 A4D0S4 (LAMB4) H Y 234 rs2074749 Benign
196 A4D0S4 (LAMB4) V F 591 rs9690688 Benign
197 A4D0S4 (LAMB4) N S 866 rs2240445 Benign
198 A4D0S4 (LAMB4) G C 1028 rs1299564647 Benign
199 A4D0S4 (LAMB4) T N 1350 rs10260756 Benign
200 A4D0S4 (LAMB4) H Y 1510 rs1627354 Benign
201 A4D0S4 (LAMB4) R S 1612 rs2528693 Benign
202 A4D0V7 (CPED1) I T 326 rs17143165 Benign
203 A4D0V7 (CPED1) A G 551 rs41281692 Benign
204 A4D0V7 (CPED1) E G 708 rs35793694 Benign
205 A4D0V7 (CPED1) K T 949 rs798911 Benign
206 A4D126 (CRPPA) A T 53 - Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C7 (MDDGC7) [MIM:616052]
207 A4D126 (CRPPA) G A 54 rs587777797 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C7 (MDDGC7) [MIM:616052]
208 A4D126 (CRPPA) A P 122 rs387907162 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
209 A4D126 (CRPPA) R H 126 rs752817129 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
210 A4D126 (CRPPA) P L 149 rs369219851 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C7 (MDDGC7) [MIM:616052]
211 A4D126 (CRPPA) D N 156 rs397514547 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
212 A4D126 (CRPPA) R H 205 rs566179705 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
213 A4D126 (CRPPA) M R 213 rs397515408 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
214 A4D126 (CRPPA) A D 216 rs387907160 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
215 A4D126 (CRPPA) Y C 226 rs1289931198 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C7 (MDDGC7) [MIM:616052]
216 A4D126 (CRPPA) Y H 226 rs1282788711 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
217 A4D126 (CRPPA) T I 238 rs397515409 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
218 A4D161 (FAM221A) Y H 20 rs17855785 Benign
219 A4D161 (FAM221A) A T 90 rs34518648 Benign
220 A4D161 (FAM221A) C R 95 rs35495590 Benign
221 A4D161 (FAM221A) H R 128 rs17855786 Benign
222 A4D161 (FAM221A) S G 240 rs35928055 Benign
223 A4D1B5 (GSAP) H R 47 rs6949654 Benign
224 A4D1B5 (GSAP) G E 305 rs1527263 Benign
225 A4D1B5 (GSAP) V I 649 rs17151692 Benign
226 A4D1B5 (GSAP) W L 653 rs17151689 Benign
227 A4D1E1 (ZNF804B) C Y 248 rs1916830 Benign
228 A4D1E1 (ZNF804B) F I 634 rs801840 Benign
229 A4D1E1 (ZNF804B) E K 909 rs10487075 Benign
230 A4D1E1 (ZNF804B) N H 914 rs59859857 Benign
231 A4D1E1 (ZNF804B) T I 915 rs56948780 Benign
232 A4D1E1 (ZNF804B) M V 1105 rs6963781 Benign
233 A4D1E1 (ZNF804B) V I 1195 rs801841 Benign
234 A4D1E9 (GTPBP10) C W 88 rs42663 Benign
235 A4D1E9 (GTPBP10) N S 110 rs42664 Benign
236 A4D1E9 (GTPBP10) L F 164 rs35001814 Benign
237 A4D1E9 (GTPBP10) M I 368 rs17863999 Benign
238 A4D1P6 (WDR91) P L 257 rs292592 Benign
239 A4D1S0 (KLRG2) K T 152 rs1860150 Benign
240 A4D1S0 (KLRG2) G A 339 rs17160911 Benign
241 A4D1T9 (PRSS37) T P 119 rs12669721 Benign
242 A4D256 (CDC14C) P S 131 rs1615556 Benign
243 A4D256 (CDC14C) I L 189 rs421206 Benign
244 A4D2B0 (MBLAC1) P H 79 rs17852945 Benign
245 A4D2B0 (MBLAC1) H N 114 rs17852946 Benign
246 A4D2G3 (OR2A25) S N 75 rs6951485 Benign
247 A4D2G3 (OR2A25) A P 209 rs2961135 Benign
248 A4D2P6 (GRID2IP) R Q 20 rs11761490 Benign
249 A4FU01 (MTMR11) M V 159 rs11205303 Benign
250 A4FU01 (MTMR11) Q P 531 rs16836857 Benign
251 A4FU49 (SH3D21) S A 217 rs12121759 Benign
252 A4FU49 (SH3D21) A S 455 rs12121759 Benign
253 A4FU69 (EFCAB5) L V 237 rs9897794 Benign
254 A4FU69 (EFCAB5) I K 278 rs4795524 Benign
255 A4FU69 (EFCAB5) R S 561 rs9900546 Benign
256 A4FU69 (EFCAB5) A D 1145 rs9894896 Benign
257 A4FU69 (EFCAB5) V A 1252 rs4499292 Benign
258 A4FU69 (EFCAB5) R T 1274 rs35724168 Benign
259 A4QMS7 (C5orf49) Q H 68 rs6883562 Benign
260 A4QMS7 (C5orf49) E K 87 rs16879215 Benign
261 A4QMS7 (C5orf49) P S 139 rs326181 Benign
262 A4QPB2 (LRP5L) T M 61 rs17616994 Benign
263 A4QPH2 (PI4KAP2) E Q 223 rs2930770 Benign
264 A4UGR9 (XIRP2) P A 450 rs16853305 Benign
265 A4UGR9 (XIRP2) Y H 457 rs16853306 Benign
266 A4UGR9 (XIRP2) I T 1397 rs7588159 Benign
267 A4UGR9 (XIRP2) I T 1488 rs7591107 Benign
268 A4UGR9 (XIRP2) R H 1626 rs16853309 Benign
269 A4UGR9 (XIRP2) N S 1833 rs7607246 Benign
270 A4UGR9 (XIRP2) L R 2423 rs16853326 Benign
271 A4UGR9 (XIRP2) S N 2553 rs16853328 Benign
272 A4UGR9 (XIRP2) H Y 2595 rs16853329 Benign
273 A4UGR9 (XIRP2) V I 2607 rs16853330 Benign
274 A4UGR9 (XIRP2) G D 2728 rs3749002 Benign
275 A4UGR9 (XIRP2) I V 2769 rs781323589 Benign
276 A4UGR9 (XIRP2) A T 2910 rs16853331 Benign
277 A4UGR9 (XIRP2) Y C 2975 rs3749003 Benign
278 A4UGR9 (XIRP2) I V 3022 rs3749004 Benign
279 A4UGR9 (XIRP2) G E 3202 rs16853333 Benign
280 A5D8T8 (CLEC18A) V A 118 rs2549097 Benign
281 A5D8T8 (CLEC18A) T M 151 rs75776403 Benign
282 A5D8T8 (CLEC18A) S R 339 - Benign
283 A5D8V6 (VPS37C) V D 182 rs2232142 Benign
284 A5D8V6 (VPS37C) L S 198 rs754382 Benign
285 A5D8V7 (CCDC151) R P 545 rs34619515 Benign
286 A5D8W1 (CFAP69) S R 22 rs17862129 Benign
287 A5D8W1 (CFAP69) R C 306 rs17866223 Benign
288 A5D8W1 (CFAP69) P L 459 rs17865959 Benign
289 A5D8W1 (CFAP69) V M 490 rs1029365 Benign
290 A5D8W1 (CFAP69) T M 885 rs1134956 Benign
291 A5LHX3 (PSMB11) G S 49 rs34457782 Benign
292 A5PL33 (KRBA1) H R 320 rs7791608 Benign
293 A5PL33 (KRBA1) D E 661 rs709065 Benign
294 A5PLK6 (RGSL1) E D 5 rs12083859 Benign
295 A5PLK6 (RGSL1) W C 256 rs647224 Benign
296 A5PLL1 (ANKRD34B) L S 156 rs32857 Benign
297 A5PLL7 (TMEM189) W G 7 rs2026757 Benign
298 A5PLN7 (FAM149A) K E 332 rs4862650 Benign
299 A5PLN7 (FAM149A) K E 437 rs4862653 Benign
300 A5PLN7 (FAM149A) H R 505 rs2276924 Benign
301 A5PLN7 (FAM149A) P L 532 rs2276922 Benign
302 A5PLN7 (FAM149A) R W 722 rs9991339 Benign
303 A5PLN7 (FAM149A) L V 748 rs6818265 Benign
304 A5X5Y0 (HTR3E) A T 71 rs7627615 Benign
305 A5X5Y0 (HTR3E) A T 430 rs13324468 Benign
306 A5YKK6 (CNOT1) R C 535 - Disease: Holoprosence phaly 12 with or without pancreatic agenesis (HPE12) [MIM:618500]
307 A5YKK6 (CNOT1) D A 603 rs17854028 Benign
308 A5YM72 (CARNS1) P T 14 rs868167 Benign
309 A5YM72 (CARNS1) M L 498 rs17853668 Benign
310 A6BM72 (MEGF11) S N 95 rs16949528 Benign
311 A6BM72 (MEGF11) H R 242 rs333550 Benign
312 A6BM72 (MEGF11) H R 317 rs333550 Benign
313 A6BM72 (MEGF11) L P 474 rs35309197 Benign
314 A6BM72 (MEGF11) L F 861 rs3803414 Benign
315 A6BM72 (MEGF11) I T 988 rs2303374 Benign
316 A6H8M9 (CDHR4) R K 5 rs13072748 Benign
317 A6H8Y1 (BDP1) N S 26 rs3748042 Benign
318 A6H8Y1 (BDP1) D E 38 rs3748043 Benign
319 A6H8Y1 (BDP1) A V 125 rs9687593 Benign
320 A6H8Y1 (BDP1) K E 722 rs36009281 Benign
321 A6H8Y1 (BDP1) R C 757 rs3761966 Benign
322 A6H8Y1 (BDP1) V M 778 rs3761967 Benign
323 A6H8Y1 (BDP1) G S 1180 rs715748 Benign
324 A6H8Y1 (BDP1) F I 1244 rs1961760 Benign
325 A6H8Y1 (BDP1) I M 1264 rs715747 Benign
326 A6H8Y1 (BDP1) V M 1347 rs6886336 Benign
327 A6H8Y1 (BDP1) K E 1469 rs1698063 Benign
328 A6H8Y1 (BDP1) Q E 1676 rs12187098 Benign
329 A6H8Y1 (BDP1) I L 2013 rs6453014 Benign
330 A6H8Y1 (BDP1) N S 2555 rs17276250 Benign
331 A6H8Z2 (FAM221B) H R 34 rs13294256 Benign
332 A6H8Z2 (FAM221B) K E 41 rs13294245 Benign
333 A6NC51 (TMEM150B) L F 199 rs7246479 Benign
334 A6NC57 (ANKRD62) A S 188 rs1986751 Benign
335 A6NC57 (ANKRD62) C R 265 rs6505715 Benign
336 A6NC57 (ANKRD62) E K 406 rs4519391 Benign
337 A6NC57 (ANKRD62) A T 613 rs7243248 Benign
338 A6NC98 (CCDC88B) D E 193 rs647152 Benign
339 A6NC98 (CCDC88B) W R 639 rs685870 Benign
340 A6NC98 (CCDC88B) D A 886 rs1318165 Benign
341 A6NCF5 (KLHL33) R H 163 rs12587478 Benign
342 A6NCF5 (KLHL33) R Q 176 rs17242648 Benign
343 A6NCF5 (KLHL33) E G 345 rs1953225 Benign
344 A6NCF5 (KLHL33) A T 516 rs7145318 Benign
345 A6NCI4 (VWA3A) T I 464 rs1369695824 Benign
346 A6NCI4 (VWA3A) T I 657 rs1105929 Benign
347 A6NCI4 (VWA3A) Q P 1165 rs16972517 Benign
348 A6NCJ1 (C19orf71) P L 83 rs12608919 Benign
349 A6NCJ1 (C19orf71) A V 137 rs6510758 Benign
350 A6NCS4 (NKX2-6) F L 151 rs267606914 Disease: Conotruncal heart malformation s (CTHM) [MIM:217095]
351 A6NCS4 (NKX2-6) K Q 152 - Disease: Conotruncal heart malformation s (CTHM) [MIM:217095]
352 A6NCS4 (NKX2-6) V A 176 - Disease: Conotruncal heart malformation s (CTHM) [MIM:217095]
353 A6NCV1 (OR6C74) R G 2 rs7301705 Benign
354 A6NCV1 (OR6C74) L F 61 rs11171388 Benign
355 A6NCV1 (OR6C74) Y C 75 rs4388990 Benign
356 A6NCV1 (OR6C74) G D 86 rs6581025 Benign
357 A6NCV1 (OR6C74) R C 120 rs4321039 Benign
358 A6ND36 (FAM83G) I T 109 rs2074283 Benign
359 A6ND48 (OR14I1) V A 36 rs4462184 Benign
360 A6ND48 (OR14I1) D N 50 rs4509608 Benign
361 A6ND48 (OR14I1) L M 84 rs41311583 Benign
362 A6ND48 (OR14I1) S N 170 rs2000390 Benign
363 A6ND48 (OR14I1) Y C 216 rs55871516 Benign
364 A6ND91 (ASPDH) Q R 266 rs12977172 Benign
365 A6NDA9 (LRIT2) C Y 28 rs12773843 Benign
366 A6NDA9 (LRIT2) K N 179 rs11200927 Benign
367 A6NDA9 (LRIT2) L F 220 rs11200925 Benign
368 A6NDA9 (LRIT2) V A 496 rs12217769 Benign
369 A6NDA9 (LRIT2) T P 510 rs6585847 Benign
370 A6NDB9 (PALM3) A T 440 rs11880169 Benign
371 A6NDH6 (OR5H15) V I 108 rs4133320 Benign
372 A6NDH6 (OR5H15) S T 148 rs4133321 Benign
373 A6NDH6 (OR5H15) T S 167 rs4133322 Benign
374 A6NDI0 (TRIM49B) L M 398 rs2696914 Benign
375 A6NDN3 (GOLGA6B) R W 200 rs2081561 Benign
376 A6NDU8 (C5orf51) Q H 20 rs12520325 Benign
377 A6NDX5 (ZNF840P) Y C 181 rs3752261 Benign
378 A6NE01 (FAM186A) K Q 187 rs12303082 Benign
379 A6NE01 (FAM186A) R G 1204 rs10876024 Benign
380 A6NE01 (FAM186A) L P 1233 rs10876023 Benign
381 A6NE01 (FAM186A) H Y 2166 rs7296291 Benign
382 A6NE01 (FAM186A) M I 2193 rs6580742 Benign
383 A6NE01 (FAM186A) H Q 2228 rs6580741 Benign
384 A6NE01 (FAM186A) Q E 2316 rs12809349 Benign
385 A6NE52 (WDR97) R G 149 rs4977196 Benign
386 A6NE52 (WDR97) H Q 427 rs34324679 Benign
387 A6NE52 (WDR97) E G 537 rs13250446 Benign
388 A6NED2 (RCCD1) A S 8 rs4932380 Benign
389 A6NEL2 (SOWAHB) D G 152 rs2703129 Benign
390 A6NEL2 (SOWAHB) P T 377 rs2703130 Benign
391 A6NEN9 (CXorf65) R H 156 rs12009522 Benign
392 A6NEQ2 (FAM181B) V L 186 rs986097 Benign
393 A6NEQ2 (FAM181B) R P 367 rs6592081 Benign
394 A6NER3 (GAGE12J) Y C 9 rs7064096 Benign
395 A6NER3 (GAGE12J) R S 13 rs7064105 Benign
396 A6NER3 (GAGE12J) P R 16 rs6520418 Benign
397 A6NER3 (GAGE12J) R Q 28 rs7064530 Benign
398 A6NES4 (MROH2A) A D 11 rs6431631 Benign
399 A6NES4 (MROH2A) Y H 271 rs1500481 Benign
400 A6NES4 (MROH2A) E G 329 rs2361503 Benign
401 A6NES4 (MROH2A) K N 489 rs11563246 Benign
402 A6NES4 (MROH2A) W R 978 rs726016 Benign
403 A6NES4 (MROH2A) Q E 1041 rs719418 Benign
404 A6NES4 (MROH2A) S T 1075 rs17864722 Benign
405 A6NES4 (MROH2A) F S 1107 rs1500480 Benign
406 A6NES4 (MROH2A) R C 1141 rs28900688 Benign
407 A6NES4 (MROH2A) V M 1184 rs6734083 Benign
408 A6NES4 (MROH2A) A T 1410 rs28900693 Benign
409 A6NES4 (MROH2A) T A 1454 rs28900694 Benign
410 A6NES4 (MROH2A) M V 1537 rs11563074 Benign
411 A6NES4 (MROH2A) F L 1546 rs28900700 Benign
412 A6NES4 (MROH2A) A T 1562 rs879665 Benign
413 A6NES4 (MROH2A) V I 1569 rs879664 Benign
414 A6NES4 (MROH2A) P L 1643 rs2270856 Benign
415 A6NET4 (OR5K3) G D 44 rs13068323 Benign
416 A6NF34 (ANTXRL) P R 550 rs7091749 Benign
417 A6NF89 (OR6C6) T I 190 rs11171402 Benign
418 A6NFD8 (HELT) L V 62 rs1078461 Benign
419 A6NFK2 (GRXCR2) L F 181 rs2569006 Benign
420 A6NFN9 (ANKUB1) R W 217 rs7645720 Benign
421 A6NFN9 (ANKUB1) I M 306 rs3821406 Benign
422 A6NFN9 (ANKUB1) S G 386 rs7610425 Benign
423 A6NFR6 (C5orf60) R C 55 rs1319931 Benign
424 A6NFR6 (C5orf60) L P 56 rs13168357 Benign
425 A6NFU8 (PGPEP1L) A V 142 rs2715423 Benign
426 A6NFU8 (PGPEP1L) E Q 169 rs1521484 Benign
427 A6NFY7 (SDHAF1) R P 55 rs137853193 Disease: Mitochondria l complex II deficiency (MT-C2D) [MIM:252011]
428 A6NFY7 (SDHAF1) G R 57 rs137853192 Disease: Mitochondria l complex II deficiency (MT-C2D) [MIM:252011]
429 A6NGA9 (TMEM202) M L 204 rs16956904 Benign
430 A6NGB9 (WIPF3) E G 321 rs3750092 Benign
431 A6NGD5 (ZSCAN5C) Q R 24 rs10419548 Benign
432 A6NGD5 (ZSCAN5C) Q R 181 rs4801690 Benign
433 A6NGD5 (ZSCAN5C) E D 197 rs12979551 Benign
434 A6NGD5 (ZSCAN5C) Q K 259 rs1865102 Benign
435 A6NGE4 (DCAF8L1) R W 549 rs12388557 Benign
436 A6NGE7 (URAD) Q P 57 rs3897926 Benign
437 A6NGG8 (PCARE) S C 13 rs10084168 Benign
438 A6NGG8 (PCARE) I F 201 rs267606690 Disease: Retinitis pigmentosa 54 (RP54) [MIM:613428]
439 A6NGG8 (PCARE) E K 227 rs114057537 Benign
440 A6NGG8 (PCARE) V A 247 rs77828062 Benign
441 A6NGG8 (PCARE) A D 252 rs77003681 Benign
442 A6NGG8 (PCARE) R I 258 rs116156338 Benign
443 A6NGG8 (PCARE) S N 312 - Benign
444 A6NGG8 (PCARE) D N 372 rs201284350 Disease: Retinitis pigmentosa 54 (RP54) [MIM:613428]
445 A6NGG8 (PCARE) E K 378 rs201900716 Benign
446 A6NGG8 (PCARE) K R 421 rs17007544 Benign
447 A6NGG8 (PCARE) T M 580 rs10166913 Benign
448 A6NGG8 (PCARE) L P 612 rs200758183 Disease: Retinitis pigmentosa 54 (RP54) [MIM:613428]
449 A6NGG8 (PCARE) V D 615 rs140776870 Disease: Retinitis pigmentosa 54 (RP54) [MIM:613428]
450 A6NGG8 (PCARE) A T 628 rs571059484 Benign
451 A6NGG8 (PCARE) A P 648 - Benign
452 A6NGG8 (PCARE) C Y 688 rs149601594 Benign
453 A6NGG8 (PCARE) L V 792 rs17744093 Benign
454 A6NGG8 (PCARE) P L 867 rs182248363 Benign
455 A6NGG8 (PCARE) P S 954 rs758883789 Benign
456 A6NGG8 (PCARE) R Q 955 rs184249075 Benign
457 A6NGG8 (PCARE) A T 959 rs192350796 Benign
458 A6NGG8 (PCARE) Q R 1020 rs200367963 Benign
459 A6NGG8 (PCARE) A T 1160 rs766723736 Benign
460 A6NGG8 (PCARE) R Q 1177 rs375826049 Benign
461 A6NGG8 (PCARE) G S 1247 rs187333111 Benign
462 A6NGG8 (PCARE) P L 1254 rs1975713 Benign
463 A6NGQ2 (OOEP) A T 18 rs2280286 Benign
464 A6NGQ2 (OOEP) V A 92 rs496530 Benign
465 A6NGR9 (MROH6) H Q 97 rs4873803 Benign
466 A6NGR9 (MROH6) V A 132 rs4874153 Benign
467 A6NGR9 (MROH6) T I 134 rs10866911 Benign
468 A6NGR9 (MROH6) A T 619 rs13255489 Benign
469 A6NGY1 (FRG2C) C R 12 rs13073018 Benign
470 A6NGY1 (FRG2C) L M 210 rs13096122 Benign
471 A6NGY5 (OR51F1) T A 20 rs17324812 Benign
472 A6NGY5 (OR51F1) F S 73 rs11033801 Benign
473 A6NGY5 (OR51F1) R M 74 rs11033800 Benign
474 A6NGY5 (OR51F1) R Q 202 rs16938368 Benign
475 A6NGY5 (OR51F1) H R 232 rs11033793 Benign
476 A6NGY5 (OR51F1) S F 233 rs1030723 Benign
477 A6NGY5 (OR51F1) A V 258 rs17324609 Benign
478 A6NGY5 (OR51F1) D Y 301 rs1030726 Benign
479 A6NH00 (OR2T8) G S 39 rs11204563 Benign
480 A6NH00 (OR2T8) W R 49 rs11204564 Benign
481 A6NH00 (OR2T8) V M 69 rs28575687 Benign
482 A6NH00 (OR2T8) T A 179 rs4584426 Benign
483 A6NH00 (OR2T8) M R 197 rs4474294 Benign
484 A6NH00 (OR2T8) A S 221 rs4362017 Benign
485 A6NH00 (OR2T8) R W 305 rs6695357 Benign
486 A6NH00 (OR2T8) R H 311 rs58882030 Benign
487 A6NHA9 (OR4C46) S F 240 rs11246607 Benign
488 A6NHA9 (OR4C46) C Y 252 rs11246608 Benign
489 A6NHA9 (OR4C46) K R 288 rs11246609 Benign
490 A6NHG9 (OR5H14) G R 64 rs4241468 Benign
491 A6NHG9 (OR5H14) Y C 189 rs4857076 Benign
492 A6NHL2 (TUBAL3) Q H 135 rs11818372 Benign
493 A6NHL2 (TUBAL3) R W 250 rs34080891 Benign
494 A6NHN0 (OTOL1) E A 470 rs3921595 Benign
495 A6NHR9 (SMCHD1) L P 107 rs1135402737 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
496 A6NHR9 (SMCHD1) A T 110 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
497 A6NHR9 (SMCHD1) M K 129 rs1135402738 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
498 A6NHR9 (SMCHD1) A S 134 - Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
499 A6NHR9 (SMCHD1) S C 135 rs1057519645 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
500 A6NHR9 (SMCHD1) S I 135 rs1057519646 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
501 A6NHR9 (SMCHD1) S N 135 rs1057519646 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
502 A6NHR9 (SMCHD1) E D 136 rs1057519643 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
503 A6NHR9 (SMCHD1) E G 136 - Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
504 A6NHR9 (SMCHD1) G E 137 rs1057519644 Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
505 A6NHR9 (SMCHD1) N H 139 rs1135402739 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
506 A6NHR9 (SMCHD1) L F 141 rs1057519641 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
507 A6NHR9 (SMCHD1) F V 171 rs1135402740 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
508 A6NHR9 (SMCHD1) L F 194 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
509 A6NHR9 (SMCHD1) A G 242 rs1135402741 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
510 A6NHR9 (SMCHD1) H D 263 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
511 A6NHR9 (SMCHD1) Y C 283 rs886041921 Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
512 A6NHR9 (SMCHD1) W S 342 - Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
513 A6NHR9 (SMCHD1) Q R 345 rs1057519639 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
514 A6NHR9 (SMCHD1) H R 348 rs1057519640 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
515 A6NHR9 (SMCHD1) Y C 353 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
516 A6NHR9 (SMCHD1) Q L 400 rs1057519642 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
517 A6NHR9 (SMCHD1) D V 420 rs1135402742 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
518 A6NHR9 (SMCHD1) G R 425 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
519 A6NHR9 (SMCHD1) E Q 473 rs1135402743 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
520 A6NHR9 (SMCHD1) G E 478 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
521 A6NHR9 (SMCHD1) R P 479 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
522 A6NHR9 (SMCHD1) C R 492 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
523 A6NHR9 (SMCHD1) K E 518 - Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
524 A6NHR9 (SMCHD1) T K 523 rs1135402744 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
525 A6NHR9 (SMCHD1) N S 524 rs1135402745 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
526 A6NHR9 (SMCHD1) T M 527 rs397518422 Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
527 A6NHR9 (SMCHD1) R Q 552 rs886042392 Disease: Bosma arhinia microphthalm ia syndrome (BAMS) [MIM:603457]
528 A6NHR9 (SMCHD1) V D 615 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
529 A6NHR9 (SMCHD1) P S 690 rs397514623 Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
530 A6NHR9 (SMCHD1) V I 708 rs2276092 Benign
531 A6NHR9 (SMCHD1) G S 716 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
532 A6NHR9 (SMCHD1) L P 748 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
533 A6NHR9 (SMCHD1) D N 849 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
534 A6NHR9 (SMCHD1) S N 868 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
535 A6NHR9 (SMCHD1) K N 879 rs633422 Benign
536 A6NHR9 (SMCHD1) I V 960 rs9961682 Benign
537 A6NHR9 (SMCHD1) R K 1449 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
538 A6NHR9 (SMCHD1) Q P 1463 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
539 A6NHR9 (SMCHD1) M I 1468 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
540 A6NHR9 (SMCHD1) P L 1485 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
541 A6NHR9 (SMCHD1) F S 1554 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
542 A6NI15 (MSGN1) E D 80 rs34069439 Benign
543 A6NI15 (MSGN1) H Y 104 rs35858730 Benign
544 A6NI61 (MYMK) G S 100 rs964335184 Disease: Carey- Fineman- Ziter syndrome (CFZS) [MIM:254940]
545 A6NI61 (MYMK) I T 154 rs1131692249 Disease: Carey- Fineman- Ziter syndrome (CFZS) [MIM:254940]
546 A6NI61 (MYMK) C R 185 rs1131692247 Disease: Carey- Fineman- Ziter syndrome (CFZS) [MIM:254940]
547 A6NI79 (CCDC69) R K 197 rs248427 Benign
548 A6NIJ9 (OR6C70) L P 181 rs10747756 Benign
549 A6NIJ9 (OR6C70) K N 233 rs60683621 Benign
550 A6NIM6 (SLC15A5) H Q 141 rs1799516 Benign
551 A6NIM6 (SLC15A5) P L 271 rs1527014 Benign
552 A6NIM6 (SLC15A5) D E 494 rs1671511 Benign
553 A6NIM6 (SLC15A5) E K 508 rs3946358 Benign
554 A6NIV6 (LRRIQ4) K E 159 rs16854411 Benign
555 A6NJ78 (METTL15) N K 31 rs2883478 Benign
556 A6NJ78 (METTL15) A T 149 rs11823114 Benign
557 A6NJ78 (METTL15) I F 267 rs11030280 Benign
558 A6NJG2 (SOWAHD) T A 254 rs12841259 Benign
559 A6NJG6 (ARGFX) R Q 145 rs9813391 Benign
560 A6NJL1 (ZSCAN5B) P S 187 rs527025 Benign
561 A6NJL1 (ZSCAN5B) V I 208 rs4801296 Benign
562 A6NJL1 (ZSCAN5B) S T 236 rs10425951 Benign
563 A6NJL1 (ZSCAN5B) S T 304 rs892183 Benign
564 A6NJL1 (ZSCAN5B) M L 412 rs16987048 Benign
565 A6NJV1 (FAM166C) Q H 66 rs13002673 Benign
566 A6NJV1 (FAM166C) Q L 177 rs2272466 Benign
567 A6NJZ3 (OR6C65) L Q 13 rs12424958 Benign
568 A6NJZ3 (OR6C65) T A 222 rs7971073 Benign
569 A6NK53 (ZNF233) S P 247 rs16978899 Benign
570 A6NK53 (ZNF233) K T 531 rs1233428 Benign
571 A6NK58 (LIPT2) L P 30 rs539962457 Disease: Encephalopat hy, neonatal severe, with lactic acidosis and brain abnormalitie s (NELABA) [MIM:617668]
572 A6NK58 (LIPT2) L R 105 rs1190703859 Disease: Encephalopat hy, neonatal severe, with lactic acidosis and brain abnormalitie s (NELABA) [MIM:617668]
573 A6NK58 (LIPT2) L R 126 rs753904927 Disease: Encephalopat hy, neonatal severe, with lactic acidosis and brain abnormalitie s (NELABA) [MIM:617668]
574 A6NK89 (RASSF10) Q H 194 rs4323847 Benign
575 A6NK97 (SLC22A20P) A D 58 rs11605576 Benign
576 A6NK97 (SLC22A20P) A V 139 rs12420456 Benign
577 A6NKB5 (PCNX2) R K 117 rs1033325 Benign
578 A6NKB5 (PCNX2) T A 454 rs10910120 Benign
579 A6NKB5 (PCNX2) S N 1901 rs56231757 Benign
580 A6NKB5 (PCNX2) R Q 1984 rs41309639 Benign
581 A6NKC9 (SH2D7) M T 137 rs2289524 Benign
582 A6NKC9 (SH2D7) R W 206 rs12593575 Benign
583 A6NKF1 (SAC3D1) T P 8 rs10160811 Benign
584 A6NKF1 (SAC3D1) L R 155 rs12271134 Benign
585 A6NKF1 (SAC3D1) L P 186 rs3741390 Benign
586 A6NKF2 (ARID3C) R Q 310 rs12337871 Benign
587 A6NKF2 (ARID3C) C G 335 rs3808869 Benign
588 A6NKG5 (RTL1) E Q 848 rs11623267 Benign
589 A6NKK0 (OR5H1) S T 148 rs5009896 Benign
590 A6NKK0 (OR5H1) I L 153 rs9845327 Benign
591 A6NKK0 (OR5H1) T I 181 rs9826076 Benign
592 A6NKK0 (OR5H1) S T 230 rs9849637 Benign
593 A6NKQ9 (CGB1) P S 185 rs35371968 Benign
594 A6NKW6 (SHISAL2B) S R 5 rs16893053 Benign
595 A6NKW6 (SHISAL2B) A P 111 rs2305962 Benign
596 A6NL05 (FAM74A7) D Y 12 rs11793234 Benign
597 A6NL05 (FAM74A7) R K 72 rs2261191 Benign
598 A6NL05 (FAM74A7) R T 86 rs6423979 Benign
599 A6NL08 (OR6C75) L F 141 rs7976023 Benign
600 A6NL08 (OR6C75) A D 235 rs7976416 Benign
601 A6NL26 (OR5B21) S Y 272 rs58454093 Benign
602 A6NLE4 (SMIM23) T M 36 rs10037031 Benign
603 A6NLF2 (ELOA3D) P L 375 rs2261291 Benign
604 A6NLJ0 (C2CD4B) F V 276 rs8040712 Benign
605 A6NLJ0 (C2CD4B) D E 346 rs1055090 Benign
606 A6NLP5 (TTC36) I M 78 rs7111428 Benign
607 A6NM03 (OR2AG2) Y C 28 rs7102536 Benign
608 A6NM03 (OR2AG2) R P 54 rs10839616 Benign
609 A6NM03 (OR2AG2) R L 87 rs11828782 Benign
610 A6NM03 (OR2AG2) R G 299 rs7924459 Benign
611 A6NM11 (LRRC37A2) F L 1141 rs1863115 Benign
612 A6NM11 (LRRC37A2) I T 1281 rs62073349 Benign
613 A6NM11 (LRRC37A2) N K 1385 rs1969205 Benign
614 A6NM11 (LRRC37A2) H P 1423 rs201103889 Benign
615 A6NM43 (CCT8L1P) C S 217 rs6969304 Benign
616 A6NM43 (CCT8L1P) D N 308 rs12672139 Benign
617 A6NM43 (CCT8L1P) S G 395 rs6953943 Benign
618 A6NM45 (CLDN24) L F 18 rs7688467 Benign
619 A6NMB9 (FIGNL2) T P 366 rs303819 Benign
620 A6NMN3 (FAM170B) R L 69 rs17773851 Benign
621 A6NMS3 (OR5K4) I V 206 rs9822460 Benign
622 A6NMU1 (OR52A4P) D G 87 rs7947334 Benign
623 A6NMU1 (OR52A4P) Y S 180 rs10837375 Benign
624 A6NMU1 (OR52A4P) C R 277 rs4426129 Benign
625 A6NMU1 (OR52A4P) T A 303 rs10837374 Benign
626 A6NMX2 (EIF4E1B) D Y 227 rs13163938 Benign
627 A6NMZ7 (COL6A6) E K 345 rs4613427 Benign
628 A6NMZ7 (COL6A6) A T 370 rs9830253 Benign
629 A6NMZ7 (COL6A6) E A 461 rs11921769 Benign
630 A6NMZ7 (COL6A6) P S 556 rs59021909 Benign
631 A6NMZ7 (COL6A6) R Q 1739 rs16830494 Benign
632 A6NMZ7 (COL6A6) H R 1799 rs7614116 Benign
633 A6NNB3 (IFITM5) G A 27 rs57285449 Benign
634 A6NNB3 (IFITM5) S L 40 rs786201032 Disease: Osteogenesis imperfecta 5 (OI5) [MIM:610967]
635 A6NNM8 (TTLL13P) A T 126 rs12912620 Benign
636 A6NNM8 (TTLL13P) T I 262 rs2063743 Benign
637 A6NNN8 (SLC38A8) I S 32 rs587777253 Disease: Foveal hypoplasia 2 (FVH2) [MIM:609218]
638 A6NNN8 (SLC38A8) M R 34 - Disease: Foveal hypoplasia 2 (FVH2) [MIM:609218]
639 A6NNN8 (SLC38A8) S T 220 rs11862366 Benign
640 A6NNN8 (SLC38A8) E K 233 rs372929441 Disease: Foveal hypoplasia 2 (FVH2) [MIM:609218]
641 A6NNN8 (SLC38A8) V D 236 rs587777254 Disease: Foveal hypoplasia 2 (FVH2) [MIM:609218]
642 A6NNN8 (SLC38A8) G R 412 rs587777256 Disease: Foveal hypoplasia 2 (FVH2) [MIM:609218]
643 A6NNP5 (CCDC169) K R 120 rs9546897 Benign
644 A6NNS2 (DHRS7C) S L 227 rs2280490 Benign
645 A6NNY8 (USP27X) Y H 381 rs886038211 Disease: Mental retardation, X-linked 105 (MRX105) [MIM:300984]
646 A6PVC2 (TTLL8) L W 127 rs59727397 Benign
647 A6PVC2 (TTLL8) R H 191 rs17013076 Benign
648 A6PVC2 (TTLL8) E K 294 rs9628315 Benign
649 A6PVS8 (LRRIQ3) F C 35 rs2274904 Benign
650 A6PVS8 (LRRIQ3) M I 129 rs17094900 Benign
651 A6PVS8 (LRRIQ3) H Y 156 rs17591320 Benign
652 A6PVS8 (LRRIQ3) A T 255 rs1340472 Benign
653 A6PVS8 (LRRIQ3) I V 398 rs17094779 Benign
654 A6PVS8 (LRRIQ3) E K 434 rs17094777 Benign
655 A6PVS8 (LRRIQ3) L F 483 rs17094774 Benign
656 A6PVY3 (FAM177B) I S 3 rs2378607 Benign
657 A6PVY3 (FAM177B) Q R 143 rs6683071 Benign
658 A6QL63 (BTBD11) G S 448 rs1558781 Benign
659 A6QL63 (BTBD11) A D 1002 rs11610050 Benign
660 A6QL63 (BTBD11) G S 1076 rs12303478 Benign
661 A6XGL0 (YJEFN3) A T 213 rs58031491 Benign
662 A6ZKI3 (RTL8C) S N 60 rs1056977 Benign
663 A7E2F4 (GOLGA8A) K N 480 rs347880 Benign
664 A7E2F4 (GOLGA8A) S N 530 rs238639 Benign
665 A7E2F4 (GOLGA8A) R Q 541 rs347879 Benign
666 A7E2Y1 (MYH7B) P T 70 rs17092199 Benign
667 A7E2Y1 (MYH7B) F Y 501 rs754511 Benign
668 A7E2Y1 (MYH7B) P S 780 rs3746442 Benign
669 A7E2Y1 (MYH7B) E K 1007 rs2425015 Benign
670 A7E2Y1 (MYH7B) K N 1552 rs3746435 Benign
671 A7E2Y1 (MYH7B) A V 1581 rs6060147 Benign
672 A7E2Y1 (MYH7B) Q R 1698 rs6060148 Benign
673 A7E2Y1 (MYH7B) V E 1917 rs7273482 Benign
674 A7MBM2 (DISP2) P A 47 rs1898883 Benign
675 A7MBM2 (DISP2) C S 56 rs1898882 Benign
676 A7MBM2 (DISP2) G E 388 rs35043215 Benign
677 A7MBM2 (DISP2) G S 1145 rs2412512 Benign
678 A7MBM2 (DISP2) R W 1247 rs3743142 Benign
679 A7MD48 (SRRM4) S N 243 rs7297606 Benign
680 A7MD48 (SRRM4) R Q 406 rs2723880 Benign
681 A7MD48 (SRRM4) R S 547 rs2555273 Benign
682 A7XYQ1 (SOBP) S G 683 rs9486659 Benign
683 A8CG34 (POM121C) T A 379 rs427206 Benign
684 A8CG34 (POM121C) Q L 1165 rs365436 Benign
685 A8K0R7 (ZNF839) A T 314 rs1543540 Benign
686 A8K0R7 (ZNF839) P S 531 rs9464 Benign
687 A8K0R7 (ZNF839) V M 693 rs28646161 Benign
688 A8K0R7 (ZNF839) F L 731 rs1053019 Benign
689 A8K2U0 (A2ML1) G R 207 rs11047499 Benign
690 A8K2U0 (A2ML1) V A 296 rs192888493 Benign
691 A8K2U0 (A2ML1) P R 356 rs863224953 Benign
692 A8K2U0 (A2ML1) D E 850 rs1860926 Benign
693 A8K2U0 (A2ML1) C Y 970 rs1558526 Benign
694 A8K2U0 (A2ML1) R W 1001 rs201725377 Benign
695 A8K2U0 (A2ML1) R W 1122 rs1860967 Benign
696 A8K2U0 (A2ML1) T M 1131 rs7959680 Benign
697 A8K2U0 (A2ML1) H R 1229 rs10219561 Benign
698 A8K2U0 (A2ML1) M V 1257 rs7308811 Benign
699 A8K2U0 (A2ML1) T M 1312 rs201083574 Benign
700 A8K2U0 (A2ML1) T A 1412 rs7315591 Benign
701 A8K2U0 (A2ML1) A V 1431 rs863224955 Benign
702 A8K7I4 (CLCA1) L F 65 rs2145412 Benign
703 A8K7I4 (CLCA1) R K 152 rs2753386 Benign
704 A8K7I4 (CLCA1) N S 357 rs2734705 Benign
705 A8K7I4 (CLCA1) E V 406 rs1142185 Benign
706 A8K7I4 (CLCA1) K R 426 rs4647852 Benign
707 A8K7I4 (CLCA1) M T 524 rs2791494 Benign
708 A8K7I4 (CLCA1) Y H 661 rs5744409 Benign
709 A8K7I4 (CLCA1) K N 760 rs2791483 Benign
710 A8K855 (EFCAB7) F I 27 rs17125106 Benign
711 A8K855 (EFCAB7) S G 186 rs9436246 Benign
712 A8K855 (EFCAB7) T I 248 rs6693255 Benign
713 A8K855 (EFCAB7) M T 262 rs6657480 Benign
714 A8K855 (EFCAB7) R K 375 rs2273367 Benign
715 A8K8P3 (SFI1) H L 13 rs5749290 Benign
716 A8K8P3 (SFI1) R H 72 rs16989698 Benign
717 A8K8P3 (SFI1) Q H 167 rs7511430 Benign
718 A8K8P3 (SFI1) Y H 322 rs5753700 Benign
719 A8K8P3 (SFI1) W R 330 rs16989291 Benign
720 A8K8P3 (SFI1) R Q 549 rs2006771 Benign
721 A8K8P3 (SFI1) R H 760 rs9621295 Benign
722 A8K8P3 (SFI1) L P 1087 rs12171042 Benign
723 A8K8V0 (ZNF785) D G 316 rs1391888354 Benign
724 A8K8V0 (ZNF785) S R 337 rs201574418 Benign
725 A8MPS7 (YDJC) A T 263 rs2298428 Benign
726 A8MPX8 (PP2D1) R H 37 rs9882323 Benign
727 A8MPX8 (PP2D1) F L 123 rs7652446 Benign
728 A8MPX8 (PP2D1) A T 260 rs4103004 Benign
729 A8MT70 (ZBBX) P T 14 rs10936535 Benign
730 A8MT70 (ZBBX) K N 160 rs4619784 Benign
731 A8MT70 (ZBBX) K R 178 rs11923054 Benign
732 A8MT70 (ZBBX) H R 346 rs34465133 Benign
733 A8MT70 (ZBBX) A G 473 rs13096767 Benign
734 A8MT70 (ZBBX) I T 511 rs35190925 Benign
735 A8MT70 (ZBBX) E K 555 rs35864545 Benign
736 A8MT70 (ZBBX) A G 636 rs12638625 Benign
737 A8MTB9 (CEACAM18) L H 160 rs8106673 Benign
738 A8MTB9 (CEACAM18) T A 161 rs12610545 Benign
739 A8MTQ0 (NOTO) R T 5 rs1864492 Benign
740 A8MTQ0 (NOTO) N K 164 rs13418681 Benign
741 A8MTY7 (KRTAP9-7) T I 23 rs4890107 Benign
742 A8MTY7 (KRTAP9-7) S N 130 rs12948628 Benign
743 A8MTZ7 (C12orf71) I V 140 rs708167 Benign
744 A8MUM7 (LGALS16) L H 97 rs1860134 Benign
745 A8MUP2 (CSKMT) G S 125 rs11231181 Benign
746 A8MV23 (SERPINE3) D N 143 rs17790811 Benign
747 A8MV24 (C17orf98) P L 61 rs7210156 Benign
748 A8MVA2 (KRTAP9-6) Y C 86 rs12938692 Benign
749 A8MVW5 (HEPACAM2) K T 86 rs10281525 Benign
750 A8MVW5 (HEPACAM2) F L 114 rs555587403 Benign
751 A8MWL7 (TMEM14DP) R C 108 rs5030881 Benign
752 A8MWY0 (ELAPOR2) N Y 539 rs1029366 Benign
753 A8MWY0 (ELAPOR2) L V 729 rs34412146 Benign
754 A8MWY0 (ELAPOR2) S R 767 rs34577440 Benign
755 A8MXD5 (GRXCR1) E K 9 rs78136490 Benign
756 A8MXD5 (GRXCR1) P L 38 rs367784906 Disease: Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]
757 A8MXD5 (GRXCR1) G E 51 rs727505186 Benign
758 A8MXD5 (GRXCR1) G S 64 rs370551174 Disease: Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]
759 A8MXD5 (GRXCR1) G V 91 rs113203706 Benign
760 A8MXD5 (GRXCR1) R C 138 rs267606856 Disease: Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]
761 A8MXD5 (GRXCR1) F V 153 rs770874273 Disease: Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]
762 A8MXQ7 (IQANK1) T R 465 rs4875053 Benign
763 A8MXV4 (NUDT19) R Q 43 rs10413282 Benign
764 A8MXY4 (ZNF99) W R 7 rs34726149 Benign
765 A8MXY4 (ZNF99) A G 129 rs7255780 Benign
766 A8MYU2 (KCNU1) D N 175 rs1111125 Benign
767 A8MYU2 (KCNU1) W R 768 rs28608091 Benign
768 A8MYU2 (KCNU1) N S 916 rs16885577 Benign
769 A8MZ36 (EVPLL) S N 4 rs570145 Benign
770 A8TX70 (COL6A5) E K 455 rs1453241 Benign
771 A8TX70 (COL6A5) N H 641 rs9882852 Benign
772 A8TX70 (COL6A5) H R 805 rs16827168 Benign
773 A8TX70 (COL6A5) D G 982 rs11917356 Benign
774 A8TX70 (COL6A5) I M 1114 rs1353613 Benign
775 A8TX70 (COL6A5) T P 1280 rs12488457 Benign
776 A8TX70 (COL6A5) C S 1477 rs1497312 Benign
777 A8TX70 (COL6A5) S P 1589 rs16827497 Benign
778 A8TX70 (COL6A5) D N 2175 rs60021408 Benign
779 A8TX70 (COL6A5) Q R 2188 rs9883988 Benign
780 A8TX70 (COL6A5) G D 2205 rs819085 Benign
781 A9YTQ3 (AHRR) L P 114 rs35008248 Benign
782 A9YTQ3 (AHRR) P A 189 rs2292596 Benign
783 A9YTQ3 (AHRR) G V 373 rs2303738 Benign
784 A9YTQ3 (AHRR) D H 627 rs34453673 Benign
785 A9Z1Z3 (FER1L4) K E 1179 rs1557202 Benign
786 A9Z1Z3 (FER1L4) N S 1183 rs11698021 Benign
787 A9Z1Z3 (FER1L4) V I 1318 rs2277862 Benign
788 B0I1T2 (MYO1G) V M 49 rs61739531 Benign
789 B0I1T2 (MYO1G) M T 489 rs3735485 Benign
790 B0I1T2 (MYO1G) R Q 798 rs2107737 Benign
791 B0I1T2 (MYO1G) Q R 861 rs7792760 Benign
792 B0YJ81 (HACD1) E K 64 rs7895850 Benign
793 B0YJ81 (HACD1) E Q 64 rs7895850 Benign
794 B0YJ81 (HACD1) V F 70 rs11254692 Benign
795 B0YJ81 (HACD1) H Y 227 rs1053926 Benign
796 B1AH88 (TSPO) H R 53 rs6971 Benign
797 B1AJZ9 (FHAD1) E K 763 rs12126178 Benign
798 B1AK53 (ESPN) R H 322 rs3817911 Benign
799 B1AK53 (ESPN) Y C 323 rs3817910 Benign
800 B1AK53 (ESPN) S R 719 rs121908134 Disease: Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]
801 B1AK53 (ESPN) D N 744 rs121908135 Disease: Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]
802 B1AKI9 (ISM1) P R 193 rs3747933 Benign
803 B1ANS9 (WDR64) R Q 647 rs12095445 Benign
804 B1ANS9 (WDR64) R W 952 rs12074374 Benign
805 B1ANY3 (FAM220BP) W R 162 rs1832322 Benign
806 B1ANY3 (FAM220BP) K N 199 rs1832323 Benign
807 B1ANY3 (FAM220BP) K N 203 rs12336220 Benign
808 B1APH4 (ZNF487) P R 61 rs11816311 Benign
809 B1APH4 (ZNF487) R S 120 rs11598660 Benign
810 B1ATL7 (PRR32) L V 115 rs12835991 Benign
811 B1ATL7 (PRR32) M T 193 rs4289953 Benign
812 B2RC85 (RSPH10B2) E K 836 rs17855578 Benign
813 B2RTY4 (MYO9A) R K 37 rs17855105 Benign
814 B2RTY4 (MYO9A) R Q 85 - Benign
815 B2RTY4 (MYO9A) T I 161 rs2929516 Benign
816 B2RTY4 (MYO9A) N D 168 - Benign
817 B2RTY4 (MYO9A) L P 211 - Benign
818 B2RTY4 (MYO9A) A V 825 rs11637562 Benign
819 B2RTY4 (MYO9A) R Q 946 rs754348944 Benign
820 B2RTY4 (MYO9A) G E 1193 rs2415129 Benign
821 B2RTY4 (MYO9A) S P 1362 rs55738821 Benign
822 B2RTY4 (MYO9A) P R 1476 rs16956375 Benign
823 B2RTY4 (MYO9A) H Y 1795 rs16956367 Benign
824 B2RTY4 (MYO9A) H Q 1805 rs2306575 Benign
825 B2RTY4 (MYO9A) R C 1834 rs74475742 Benign
826 B2RTY4 (MYO9A) I V 2390 rs2291280 Benign
827 B2RU33 (POTEC) T A 3 rs28535987 Benign
828 B2RU33 (POTEC) A T 10 rs45488295 Benign
829 B2RU33 (POTEC) A T 13 rs45561536 Benign
830 B2RU33 (POTEC) F C 28 rs45626231 Benign
831 B2RU33 (POTEC) H P 30 rs9807633 Benign
832 B2RU33 (POTEC) K R 36 rs45570841 Benign
833 B2RU33 (POTEC) H R 66 rs9807555 Benign
834 B2RU33 (POTEC) C Y 72 rs45554841 Benign
835 B2RU33 (POTEC) H D 86 rs45469098 Benign
836 B2RU33 (POTEC) M I 166 rs12454500 Benign
837 B2RU33 (POTEC) C R 221 rs7505568 Benign
838 B2RUZ4 (SMIM1) M K 51 rs1182690110 Benign
839 B2RUZ4 (SMIM1) M R 51 - Benign
840 B2RXF5 (ZBTB42) R H 397 rs730882163 Disease: Lethal congenital contracture syndrome 6 (LCCS6) [MIM:616248]
841 B2RXH2 (KDM4E) A T 26 rs12798990 Benign
842 B2RXH2 (KDM4E) Q R 42 rs2257265 Benign
843 B2RXH2 (KDM4E) Q R 113 rs10752685 Benign
844 B2RXH2 (KDM4E) F S 258 rs16921260 Benign
845 B2RXH4 (BTBD18) S T 302 rs78162678 Benign
846 B2RXH4 (BTBD18) E G 352 rs201912857 Benign
847 B3EWG3 (FAM25A) V L 35 rs7079587 Benign
848 B3GLJ2 (PATE3) T K 30 rs1025165 Benign
849 B3SHH9 (TMEM114) I T 35 rs1048548807 Benign
850 B3SHH9 (TMEM114) A V 147 rs141472774 Benign
851 B3SHH9 (TMEM114) F L 206 - Benign
852 B6A8C7 (TARM1) S P 37 rs17305269 Benign
853 B6A8C7 (TARM1) R H 111 rs80087697 Benign
854 B6A8C7 (TARM1) R W 258 rs77768804 Benign
855 B7U540 (KCNJ18) A E 56 rs1435508633 Benign
856 B7U540 (KCNJ18) T M 140 rs527236152 Disease: Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
857 B7U540 (KCNJ18) G R 169 rs1311839715 Benign
858 B7U540 (KCNJ18) R H 205 rs672601244 Disease: Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
859 B7U540 (KCNJ18) I V 249 rs1182398045 Benign
860 B7U540 (KCNJ18) T M 354 rs527236158 Disease: Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
861 B7U540 (KCNJ18) K T 360 - Disease: Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
862 B7U540 (KCNJ18) K R 366 rs527236159 Disease: Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
863 B7U540 (KCNJ18) E K 388 - Disease: Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
864 B7ZBB8 (PPP1R3G) P Q 280 rs436556 Benign
865 C9JDP6 (CLDN25) H Y 219 rs35111413 Benign
866 C9JDV5 (C12orf77) L F 131 rs864161 Benign
867 C9JE40 (PATL2) M L 88 rs8026845 Benign
868 C9JE40 (PATL2) L R 189 rs1156737044 Disease: Oocyte maturation defect 4 (OOMD4) [MIM:617743]
869 C9JE40 (PATL2) Y N 217 rs1361024832 Disease: Oocyte maturation defect 4 (OOMD4) [MIM:617743]
870 C9JR72 (KBTBD13) R S 248 rs200549195 Disease: Nemaline myopathy 6 (NEM6) [MIM:609273]
871 C9JR72 (KBTBD13) K N 390 - Disease: Nemaline myopathy 6 (NEM6) [MIM:609273]
872 C9JR72 (KBTBD13) R C 408 rs387907090 Disease: Nemaline myopathy 6 (NEM6) [MIM:609273]
873 C9JXX5 (C11orf94) Q H 80 rs2271849 Benign
874 D6RGH6 (MCIDAS) G D 366 rs797045151 Disease: Ciliary dyskinesia, primary, 42 (CILD42) [MIM:618695]
875 D6RGH6 (MCIDAS) R H 381 rs797045152 Disease: Ciliary dyskinesia, primary, 42 (CILD42) [MIM:618695]
876 E2RYF6 (MUC22) N D 1712 rs4248153 Benign
877 E9PAV3 (NACA) V E 336 rs2958127 Benign
878 E9PAV3 (NACA) F S 405 rs2926743 Benign
879 E9PAV3 (NACA) P S 519 rs185561121 Benign
880 E9PAV3 (NACA) S T 1795 rs2926747 Benign
881 E9PAV3 (NACA) L P 1841 rs2958149 Benign
882 I3L3R5 (CCER2) E D 33 rs76973734 Benign
883 I3L3R5 (CCER2) L P 39 rs530595113 Benign
884 I3L3R5 (CCER2) E D 64 rs375222589 Benign
885 I3L3R5 (CCER2) G V 80 rs908319857 Benign
886 I3L3R5 (CCER2) E K 160 rs371603378 Benign
887 I3L3R5 (CCER2) R C 195 rs569628536 Benign
888 I3L3R5 (CCER2) A T 224 rs1301343892 Benign
889 I3L3R5 (CCER2) E A 232 rs369436329 Benign
890 I3L3R5 (CCER2) D G 249 rs565410180 Benign
891 M0R2J8 (DCDC1) E G 7 rs11031357 Benign
892 M0R2J8 (DCDC1) V M 83 rs2761591 Benign
893 O00115 (DNASE2) R I 39 rs36075196 Benign
894 O00115 (DNASE2) H R 204 rs16978744 Benign
895 O00115 (DNASE2) R L 314 rs1061192 Benign
896 O00116 (AGPS) R Q 182 - Disease: Rhizomelic chondrodyspl asia punctata 3 (RCDP3) [MIM:600121]
897 O00116 (AGPS) T I 309 rs121434412 Disease: Rhizomelic chondrodyspl asia punctata 3 (RCDP3) [MIM:600121]
898 O00116 (AGPS) R H 419 rs121434411 Disease: Rhizomelic chondrodyspl asia punctata 3 (RCDP3) [MIM:600121]
899 O00116 (AGPS) L P 469 rs121434413 Disease: Rhizomelic chondrodyspl asia punctata 3 (RCDP3) [MIM:600121]
900 O00116 (AGPS) E K 471 - Disease: Rhizomelic chondrodyspl asia punctata 3 (RCDP3) [MIM:600121]
901 O00116 (AGPS) T M 568 rs387907214 Disease: Rhizomelic chondrodyspl asia punctata 3 (RCDP3) [MIM:600121]
902 O00124 (UBXN8) V M 18 rs3174043 Benign
903 O00124 (UBXN8) I T 51 rs2911690 Benign
904 O00139 (KIF2A) S N 317 rs587777034 Disease: Cortical dysplasia, complex, with other brain malformation s 3 (CDCBM3) [MIM:615411]
905 O00139 (KIF2A) H D 321 rs587777033 Disease: Cortical dysplasia, complex, with other brain malformation s 3 (CDCBM3) [MIM:615411]
906 O00141 (SGK1) V I 219 rs34133418 Benign
907 O00141 (SGK1) A V 342 rs55932330 Benign
908 O00142 (TK2) I M 53 rs137854432 Disease: Mitochondria l DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
909 O00142 (TK2) T M 64 rs281865487 Disease: Mitochondria l DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
910 O00142 (TK2) T M 108 rs137854431 Disease: Mitochondria l DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
911 O00142 (TK2) M V 117 - Disease: Mitochondria l DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
912 O00142 (TK2) H N 121 rs137854429 Disease: Mitochondria l DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
913 O00142 (TK2) A V 139 rs281865494 Disease: Mitochondria l DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
914 O00142 (TK2) R W 183 rs137886900 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive 3 (PEOB3) [MIM:617069]
915 O00142 (TK2) T A 188 rs281865495 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive 3 (PEOB3) [MIM:617069]
916 O00142 (TK2) R K 192 rs281865496 Disease: Mitochondria l DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
917 O00142 (TK2) I N 212 rs137854430 Disease: Mitochondria l DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
918 O00148 (DDX39A) V I 142 rs36127505 Benign
919 O00151 (PDLIM1) N S 175 rs2296961 Benign
920 O00159 (MYO1C) V I 795 rs8081370 Benign
921 O00159 (MYO1C) Q R 826 rs9905106 Benign
922 O00160 (MYO1F) I V 502 rs200797032 Disease: -
923 O00160 (MYO1F) P L 960 rs2288411 Benign
924 O00165 (HAX1) P S 49 rs11556344 Benign
925 O00165 (HAX1) L R 130 rs179363871 Disease: Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738]
926 O00165 (HAX1) F L 141 rs179363870 Disease: Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738]
927 O00165 (HAX1) S G 151 rs17851425 Benign
928 O00165 (HAX1) V I 172 rs141970914 Disease: Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738]
929 O00165 (HAX1) S P 278 rs1804715 Benign
930 O00167 (EYA2) P S 83 rs2275596 Benign
931 O00167 (EYA2) T A 238 rs866936 Benign
932 O00170 (AIP) R H 16 rs145047094 Benign
933 O00170 (AIP) Q K 228 rs641081 Benign
934 O00170 (AIP) R Q 304 rs104894190 Disease: Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
935 O00170 (AIP) Q R 307 rs4930199 Benign
936 O00175 (CCL24) I L 29 rs2302006 Benign
937 O00175 (CCL24) S F 31 rs11465293 Benign
938 O00175 (CCL24) A T 102 rs11465312 Benign
939 O00175 (CCL24) Q E 110 rs11465313 Benign
940 O00178 (GTPBP1) G R 91 rs11547402 Benign
941 O00182 (LGALS9) G S 5 rs3751093 Benign
942 O00186 (STXBP3) R Q 295 rs2275344 Benign
943 O00186 (STXBP3) E G 433 rs1044136 Benign
944 O00186 (STXBP3) C G 546 rs1044137 Benign
945 O00187 (MASP2) R Q 99 rs61735600 Benign
946 O00187 (MASP2) R C 118 rs147270785 Benign
947 O00187 (MASP2) D G 120 rs72550870 Disease: MASP2 deficiency (MASPD) [MIM:613791]
948 O00187 (MASP2) P L 126 rs56392418 Disease: MASP2 deficiency (MASPD) [MIM:613791]
949 O00187 (MASP2) T M 128 rs141145402 Benign
950 O00187 (MASP2) H R 155 rs2273343 Benign
951 O00187 (MASP2) D Y 371 rs12711521 Benign
952 O00187 (MASP2) V A 377 rs2273346 Benign
953 O00187 (MASP2) V M 405 rs61735594 Benign
954 O00187 (MASP2) R H 439 rs12085877 Benign
955 O00192 (ARVCF) V A 175 rs2240717 Benign
956 O00192 (ARVCF) P L 220 rs2073748 Benign
957 O00192 (ARVCF) R Q 539 rs16982871 Benign
958 O00192 (ARVCF) R Q 906 rs165815 Benign
959 O00192 (ARVCF) R Q 909 rs34638476 Benign
960 O00192 (ARVCF) R W 909 rs34687532 Benign
961 O00192 (ARVCF) R W 912 rs34445280 Benign
962 O00194 (RAB27B) A T 92 rs9966265 Benign
963 O00203 (AP3B1) L R 580 rs121908904 Disease: Hermansky- Pudlak syndrome 2 (HPS2) [MIM:608233]
964 O00203 (AP3B1) V E 585 rs6453373 Benign
965 O00204 (SULT2B1) L S 51 rs16982149 Benign
966 O00204 (SULT2B1) V I 240 rs2302947 Benign
967 O00204 (SULT2B1) P L 345 rs17842463 Benign
968 O00206 (TLR4) T A 175 rs16906079 Benign
969 O00206 (TLR4) Q R 188 rs5030713 Benign
970 O00206 (TLR4) C S 246 rs5030714 Benign
971 O00206 (TLR4) E D 287 - Benign
972 O00206 (TLR4) D G 299 rs4986790 Benign
973 O00206 (TLR4) C W 306 rs2770145 Benign
974 O00206 (TLR4) V G 310 rs2770144 Benign
975 O00206 (TLR4) N S 329 rs5030715 Benign
976 O00206 (TLR4) F Y 342 rs5031050 Benign
977 O00206 (TLR4) L F 385 rs11536884 Benign
978 O00206 (TLR4) T I 399 rs4986791 Benign
979 O00206 (TLR4) S N 400 rs4987233 Benign
980 O00206 (TLR4) F L 443 rs5030716 Benign
981 O00206 (TLR4) E K 474 rs5030718 Benign
982 O00206 (TLR4) Q H 510 rs5030719 Benign
983 O00206 (TLR4) K R 694 rs5030722 Benign
984 O00206 (TLR4) R H 763 rs5030723 Benign
985 O00206 (TLR4) Q H 834 - Benign
986 O00212 (RHOD) C R 134 rs4930409 Benign
987 O00213 (APBB1) M V 327 rs1800423 Benign
988 O00213 (APBB1) N S 396 rs1800425 Benign
989 O00214 (LGALS8) F Y 19 rs1126407 Benign
990 O00214 (LGALS8) R C 36 rs1041935 Benign
991 O00214 (LGALS8) M V 56 rs1041937 Benign
992 O00214 (LGALS8) R S 184 rs2243525 Benign
993 O00217 (NDUFS8) E Q 63 rs397514618 Disease: Mitochondria l complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
994 O00217 (NDUFS8) P L 79 rs28939679 Disease: Mitochondria l complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
995 O00217 (NDUFS8) R H 102 rs121912638 Disease: Mitochondria l complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
996 O00219 (HAS3) R H 173 rs2232229 Benign
997 O00220 (TNFRSF10A) G V 11 rs34737614 Benign
998 O00220 (TNFRSF10A) T I 33 rs20577 Benign
999 O00220 (TNFRSF10A) P R 105 rs11986840 Benign
1000 O00220 (TNFRSF10A) H R 141 rs17620 Benign
1001 O00220 (TNFRSF10A) R T 209 rs20575 Benign
1002 O00220 (TNFRSF10A) E A 228 rs20576 Benign
1003 O00220 (TNFRSF10A) N H 297 rs17088980 Benign
1004 O00220 (TNFRSF10A) R K 441 rs2230229 Benign
1005 O00221 (NFKBIE) H Q 95 rs28362857 Benign
1006 O00221 (NFKBIE) V A 194 rs2233434 Benign
1007 O00222 (GRM8) S C 10 rs769194 Benign
1008 O00222 (GRM8) F C 21 rs769202 Benign
1009 O00222 (GRM8) I T 265 rs17150343 Benign
1010 O00222 (GRM8) R Q 343 rs13309334 Benign
1011 O00222 (GRM8) F Y 362 rs78124913 Benign
1012 O00222 (GRM8) G D 368 rs78947184 Benign
1013 O00222 (GRM8) R Q 392 rs2234947 Benign
1014 O00222 (GRM8) L F 430 rs75863532 Benign
1015 O00222 (GRM8) V G 548 rs2234948 Benign
1016 O00222 (GRM8) I N 768 rs1051433 Benign
1017 O00222 (GRM8) S I 902 rs10225567 Benign
1018 O00232 (PSMD12) V A 358 rs2230680 Benign
1019 O00233 (PSMD9) V A 17 rs2230681 Benign
1020 O00233 (PSMD9) T I 74 rs2291116 Benign
1021 O00233 (PSMD9) R W 134 rs1177573 Benign
1022 O00233 (PSMD9) E G 197 rs14259 Benign
1023 O00238 (BMPR1B) C R 53 rs863225041 Disease: Acromesomeli c dysplasia, Demirhan type (AMDD) [MIM:609441]
1024 O00238 (BMPR1B) R W 149 rs34231464 Benign
1025 O00238 (BMPR1B) I K 200 rs121434417 Disease: Brachydactyl y A2 (BDA2) [MIM:112600]
1026 O00238 (BMPR1B) R H 224 rs35973133 Benign
1027 O00238 (BMPR1B) K N 325 rs869025614 Disease: Brachydactyl y A1, D (BDA1D) [MIM:616849]
1028 O00238 (BMPR1B) R Q 371 rs34970181 Benign
1029 O00238 (BMPR1B) R Q 486 rs121434419 Disease: Brachydactyl y A2 (BDA2) [MIM:112600]
1030 O00238 (BMPR1B) R W 486 rs121434418 Disease: Brachydactyl y A2 (BDA2) [MIM:112600]
1031 O00241 (SIRPB1) R G 23 rs1535882 Benign
1032 O00241 (SIRPB1) R H 53 rs2746603 Benign
1033 O00241 (SIRPB1) I M 229 rs2253427 Benign
1034 O00241 (SIRPB1) A P 363 rs2243603 Benign
1035 O00253 (AGRP) A T 67 rs5030980 Benign
1036 O00254 (F2RL2) L S 15 rs2069649 Benign
1037 O00254 (F2RL2) M V 177 rs2069700 Benign
1038 O00254 (F2RL2) N D 250 rs2069683 Benign
1039 O00255 (MEN1) P L 12 rs794728614 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1040 O00255 (MEN1) L R 22 rs104894256 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1041 O00255 (MEN1) E K 26 rs28931612 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1042 O00255 (MEN1) L W 39 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1043 O00255 (MEN1) G D 42 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1044 O00255 (MEN1) E G 45 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1045 O00255 (MEN1) E K 45 rs1114167491 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1046 O00255 (MEN1) R L 98 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1047 O00255 (MEN1) G E 110 rs1389398299 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1048 O00255 (MEN1) K I 135 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1049 O00255 (MEN1) H D 139 rs104894263 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1050 O00255 (MEN1) H P 139 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1051 O00255 (MEN1) H R 139 rs1114167515 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1052 O00255 (MEN1) H Y 139 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1053 O00255 (MEN1) F V 144 rs1114167543 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1054 O00255 (MEN1) I F 147 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1055 O00255 (MEN1) D V 158 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1056 O00255 (MEN1) S I 159 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1057 O00255 (MEN1) S F 160 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1058 O00255 (MEN1) G D 161 rs794728648 Disease: Parathyroid tumor
1059 O00255 (MEN1) A P 165 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1060 O00255 (MEN1) A T 165 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1061 O00255 (MEN1) V F 167 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1062 O00255 (MEN1) A D 169 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1063 O00255 (MEN1) C R 170 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1064 O00255 (MEN1) L P 173 rs386134256 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1065 O00255 (MEN1) R Q 176 rs607969 Benign
1066 O00255 (MEN1) D Y 177 rs1114167494 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1067 O00255 (MEN1) A P 181 rs376872829 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1068 O00255 (MEN1) E D 184 rs1555165811 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1069 O00255 (MEN1) E K 184 rs1064793167 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1070 O00255 (MEN1) E Q 184 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1071 O00255 (MEN1) H R 186 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1072 O00255 (MEN1) W R 188 rs794728649 Disease: Parathyroid tumor
1073 O00255 (MEN1) W S 188 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1074 O00255 (MEN1) V E 189 rs104894262 Disease: -
1075 O00255 (MEN1) V M 220 rs794728621 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1076 O00255 (MEN1) L P 228 rs886039415 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1077 O00255 (MEN1) G R 230 rs1057521110 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1078 O00255 (MEN1) R L 234 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1079 O00255 (MEN1) V F 245 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1080 O00255 (MEN1) C F 246 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1081 O00255 (MEN1) C R 246 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1082 O00255 (MEN1) C Y 246 rs794728624 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1083 O00255 (MEN1) A V 247 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1084 O00255 (MEN1) S P 258 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1085 O00255 (MEN1) E K 260 rs104894268 Disease: -
1086 O00255 (MEN1) L R 264 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1087 O00255 (MEN1) Q P 265 - Disease: -
1088 O00255 (MEN1) L P 269 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1089 O00255 (MEN1) L P 272 - Disease: -
1090 O00255 (MEN1) P H 282 rs1060499973 Disease: -
1091 O00255 (MEN1) G R 286 rs1114167493 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1092 O00255 (MEN1) A E 289 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1093 O00255 (MEN1) L P 291 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1094 O00255 (MEN1) G D 310 - Disease: -
1095 O00255 (MEN1) A P 314 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1096 O00255 (MEN1) T P 316 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1097 O00255 (MEN1) R P 319 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1098 O00255 (MEN1) H R 322 rs1114167495 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1099 O00255 (MEN1) H Y 322 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1100 O00255 (MEN1) P L 325 rs1114167469 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1101 O00255 (MEN1) P R 325 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1102 O00255 (MEN1) A P 330 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1103 O00255 (MEN1) A D 342 rs2071312 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1104 O00255 (MEN1) A P 342 rs2071312 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1105 O00255 (MEN1) W R 346 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1106 O00255 (MEN1) A P 347 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1107 O00255 (MEN1) T R 349 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1108 O00255 (MEN1) I N 353 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1109 O00255 (MEN1) Y D 358 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1110 O00255 (MEN1) R W 360 rs863224807 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1111 O00255 (MEN1) D H 362 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1112 O00255 (MEN1) E K 364 rs387906552 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1113 O00255 (MEN1) A D 373 rs1555164707 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1114 O00255 (MEN1) I M 377 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1115 O00255 (MEN1) P S 378 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1116 O00255 (MEN1) A V 390 rs1298484645 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1117 O00255 (MEN1) A P 416 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1118 O00255 (MEN1) L R 418 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1119 O00255 (MEN1) L P 419 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1120 O00255 (MEN1) R P 420 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1121 O00255 (MEN1) D H 423 rs104894264 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1122 O00255 (MEN1) D N 423 rs104894264 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1123 O00255 (MEN1) C Y 426 rs386134249 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1124 O00255 (MEN1) W S 428 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1125 O00255 (MEN1) S R 432 rs1114167528 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1126 O00255 (MEN1) W C 441 rs398124435 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1127 O00255 (MEN1) W R 441 rs104894259 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1128 O00255 (MEN1) L P 449 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1129 O00255 (MEN1) F S 452 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1130 O00255 (MEN1) W C 476 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1131 O00255 (MEN1) R C 532 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1132 O00255 (MEN1) P S 545 rs745404679 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1133 O00255 (MEN1) T A 546 rs2959656 Benign
1134 O00255 (MEN1) P S 549 rs1387157979 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1135 O00255 (MEN1) T S 557 rs121913035 Benign
1136 O00255 (MEN1) S N 560 rs863224527 Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1137 O00255 (MEN1) S R 560 - Disease: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
1138 O00258 (GET1) V I 110 rs35946782 Benign
1139 O00268 (TAF4) P L 651 rs6089604 Benign
1140 O00270 (GPR31) H R 91 rs6902566 Benign
1141 O00291 (HIP1) M K 263 rs17149023 Benign
1142 O00292 (LEFTY2) S L 92 rs366439 Benign
1143 O00292 (LEFTY2) P L 286 rs2295418 Benign
1144 O00292 (LEFTY2) S N 342 rs121909126 Disease: Left-right axis malformation s (LRAM) [MIM:601877]
1145 O00294 (TULP1) T R 67 rs7764472 Benign
1146 O00294 (TULP1) A V 245 rs62636707 Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1147 O00294 (TULP1) I T 259 rs2064317 Benign
1148 O00294 (TULP1) K N 261 rs2064318 Benign
1149 O00294 (TULP1) K T 261 - Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1150 O00294 (TULP1) G W 368 rs387906837 Disease: Leber congenital amaurosis 15 (LCA15) [MIM:613843]
1151 O00294 (TULP1) R H 378 rs148749577 Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1152 O00294 (TULP1) F S 382 rs121909076 Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1153 O00294 (TULP1) R W 400 rs387906836 Disease: Leber congenital amaurosis 15 (LCA15) [MIM:613843]
1154 O00294 (TULP1) R P 420 rs121909073 Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1155 O00294 (TULP1) T M 454 rs138200747 Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1156 O00294 (TULP1) I K 459 rs121909075 Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1157 O00294 (TULP1) R W 482 rs121909077 Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1158 O00294 (TULP1) K R 489 rs62636511 Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1159 O00294 (TULP1) F L 491 rs121909074 Disease: Retinitis pigmentosa 14 (RP14) [MIM:600132]
1160 O00295 (TULP2) A T 18 rs7260579 Benign
1161 O00295 (TULP2) G S 122 rs34378208 Benign
1162 O00295 (TULP2) E K 245 rs2270945 Benign
1163 O00295 (TULP2) D N 251 rs8112811 Benign
1164 O00300 (TNFRSF11B) N K 3 rs2073618 Benign
1165 O00300 (TNFRSF11B) V M 104 rs11573906 Benign
1166 O00303 (EIF3F) P L 39 rs1043738 Benign
1167 O00303 (EIF3F) W L 172 rs1044058 Benign
1168 O00303 (EIF3F) F V 232 rs141976414 Disease: Intellectual developmenta l disorder, autosomal recessive 67 (MRT67) [MIM:618295]
1169 O00305 (CACNB4) C F 104 rs1805031 Disease: Episodic ataxia 5 (EA5) [MIM:613855]
1170 O00311 (CDC7) Q P 23 rs13447459 Benign
1171 O00311 (CDC7) I V 99 rs13447492 Benign
1172 O00311 (CDC7) G W 112 rs13447493 Benign
1173 O00311 (CDC7) F L 162 rs13447503 Benign
1174 O00311 (CDC7) I M 208 rs34979509 Benign
1175 O00311 (CDC7) E D 209 rs56327502 Benign
1176 O00311 (CDC7) K R 441 rs13447539 Benign
1177 O00311 (CDC7) T I 472 rs56381770 Benign
1178 O00311 (CDC7) S A 498 rs35055915 Benign
1179 O00321 (ETV2) D N 90 rs2285419 Benign
1180 O00322 (UPK1A) S A 33 rs2267586 Benign
1181 O00322 (UPK1A) M T 257 rs2285421 Benign
1182 O00329 (PIK3CD) E K 1021 rs397518423 Disease: Activated PI3K-delta syndrome (APDS) [MIM:615513]
1183 O00330 (PDHX) R C 23 rs1049306 Benign
1184 O00330 (PDHX) T A 101 rs11539202 Benign
1185 O00330 (PDHX) D V 370 rs17850649 Benign
1186 O00337 (SLC28A1) E G 34 - Benign
1187 O00337 (SLC28A1) V I 189 rs2290272 Benign
1188 O00337 (SLC28A1) A S 190 rs45523532 Benign
1189 O00337 (SLC28A1) Q K 237 rs8187758 Benign
1190 O00337 (SLC28A1) N S 409 rs1174011667 Benign
1191 O00337 (SLC28A1) R C 510 rs2242047 Disease: Uridine- cytidineuria (URCTU) [MIM:618477]
1192 O00337 (SLC28A1) D N 521 rs2242046 Benign
1193 O00337 (SLC28A1) S P 546 rs45584739 Disease: Uridine- cytidineuria (URCTU) [MIM:618477]
1194 O00337 (SLC28A1) R Q 561 - Disease: Uridine- cytidineuria (URCTU) [MIM:618477]
1195 O00338 (SULT1C2) Y H 128 rs17036091 Benign
1196 O00338 (SULT1C2) S A 255 rs17036104 Benign
1197 O00338 (SULT1C2) R T 282 rs45515691 Benign
1198 O00339 (MATN2) G A 14 rs35804177 Benign
1199 O00339 (MATN2) T M 187 rs2290472 Benign
1200 O00339 (MATN2) K E 356 rs1869609 Benign
1201 O00339 (MATN2) A T 599 rs35120814 Benign
1202 O00339 (MATN2) T M 855 rs2255317 Benign
1203 O00339 (MATN2) V I 932 rs17831160 Benign
1204 O00341 (SLC1A7) Q R 537 rs1288401 Benign
1205 O00358 (FOXE1) S N 57 rs28937575 Disease: Bamforth- Lazarus syndrome (BLS) [MIM:241850]
1206 O00358 (FOXE1) A V 65 rs104894110 Disease: Bamforth- Lazarus syndrome (BLS) [MIM:241850]
1207 O00358 (FOXE1) R S 73 - Disease: Bamforth- Lazarus syndrome (BLS) [MIM:241850]
1208 O00358 (FOXE1) R C 102 rs104894111 Benign
1209 O00358 (FOXE1) N D 132 rs762041111 Benign
1210 O00358 (FOXE1) A G 248 rs538912281 Disease: Thyroid cancer, non- medullary, 4 (NMTC4) [MIM:616534]
1211 O00391 (QSOX1) N S 114 rs3894211 Benign
1212 O00391 (QSOX1) G A 200 rs17855475 Benign
1213 O00391 (QSOX1) R M 256 rs4360492 Benign
1214 O00391 (QSOX1) A S 294 rs2278943 Benign
1215 O00391 (QSOX1) H R 444 rs12371 Benign
1216 O00391 (QSOX1) N H 591 rs3738115 Benign
1217 O00391 (QSOX1) R P 605 rs16855466 Benign
1218 O00398 (P2RY10) N H 3 rs6618868 Benign
1219 O00400 (SLC33A1) A P 110 rs281875283 Disease: Congenital cataracts, hearing loss, and neurodegener ation (CCHLND) [MIM:614482]
1220 O00400 (SLC33A1) S R 113 rs121909484 Disease: Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539]
1221 O00400 (SLC33A1) D G 171 rs3804769 Benign
1222 O00408 (PDE2A) T I 224 rs341047 Benign
1223 O00409 (FOXN3) Y H 337 rs1804717 Benign
1224 O00410 (IPO5) L I 286 rs1053814 Benign
1225 O00410 (IPO5) E K 525 rs632729 Benign
1226 O00410 (IPO5) E K 549 rs484770 Benign
1227 O00410 (IPO5) Y C 905 rs1804740 Benign
1228 O00410 (IPO5) T I 969 rs1804741 Benign
1229 O00411 (POLRMT) E A 555 rs2238549 Benign
1230 O00418 (EEF2K) H R 23 rs9935059 Benign
1231 O00418 (EEF2K) P A 75 rs17841292 Benign
1232 O00418 (EEF2K) Q R 361 rs4783453 Benign
1233 O00418 (EEF2K) R W 433 rs56137739 Benign
1234 O00418 (EEF2K) D H 609 - Benign
1235 O00421 (CCRL2) Y C 4 rs11574443 Benign
1236 O00421 (CCRL2) F Y 167 rs3204849 Benign
1237 O00421 (CCRL2) V M 168 rs6441977 Benign
1238 O00421 (CCRL2) I V 243 rs3204850 Benign
1239 O00423 (EML1) W R 225 rs886037937 Disease: Band heterotopia (BH) [MIM:600348]
1240 O00423 (EML1) T A 243 rs886037936 Disease: Band heterotopia (BH) [MIM:600348]
1241 O00423 (EML1) A V 377 rs34198557 Benign
1242 O00423 (EML1) H N 552 rs17853154 Benign
1243 O00423 (EML1) S P 556 rs2250718 Benign
1244 O00429 (DNM1L) E A 2 rs1555229948 Disease: Optic atrophy 5 (OPA5) [MIM:610708]
1245 O00429 (DNM1L) S G 36 rs879255688 Disease: Encephalopat hy due to defective mitochondria l and peroxisomal fission 1 (EMPF1) [MIM:614388]
1246 O00429 (DNM1L) S T 71 rs1064610 Benign
1247 O00429 (DNM1L) A E 192 rs1555119216 Disease: Optic atrophy 5 (OPA5) [MIM:610708]
1248 O00429 (DNM1L) G S 362 rs886037861 Disease: Encephalopat hy due to defective mitochondria l and peroxisomal fission 1 (EMPF1) [MIM:614388]
1249 O00429 (DNM1L) A D 395 rs121908531 Disease: Encephalopat hy due to defective mitochondria l and peroxisomal fission 1 (EMPF1) [MIM:614388]
1250 O00429 (DNM1L) R C 403 rs863223953 Disease: Encephalopat hy due to defective mitochondria l and peroxisomal fission 1 (EMPF1) [MIM:614388]
1251 O00429 (DNM1L) L S 406 - Disease: Encephalopat hy due to defective mitochondria l and peroxisomal fission 1 (EMPF1) [MIM:614388]
1252 O00429 (DNM1L) E D 426 rs2389105 Benign
1253 O00443 (PIK3C2A) T A 1415 rs11604561 Benign
1254 O00444 (PLK4) Y C 86 rs34156294 Benign
1255 O00444 (PLK4) R H 146 rs35232579 Benign
1256 O00444 (PLK4) A T 226 rs35448573 Benign
1257 O00444 (PLK4) S T 232 rs3811740 Benign
1258 O00444 (PLK4) P L 317 rs35049837 Benign
1259 O00444 (PLK4) N D 449 rs34906574 Benign
1260 O00444 (PLK4) W S 519 rs56043017 Benign
1261 O00444 (PLK4) E D 830 rs17012739 Benign
1262 O00445 (SYT5) E D 4 rs2301279 Benign
1263 O00445 (SYT5) R Q 111 rs11542503 Benign
1264 O00451 (GFRA2) L Q 462 rs1128397 Benign
1265 O00459 (PIK3R2) S R 234 rs2241088 Benign
1266 O00459 (PIK3R2) S P 313 rs1011320 Benign
1267 O00459 (PIK3R2) G R 373 rs587776934 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 1 (MPPH1) [MIM:603387]
1268 O00459 (PIK3R2) L P 401 rs587777624 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 1 (MPPH1) [MIM:603387]
1269 O00459 (PIK3R2) D H 557 rs372272045 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 1 (MPPH1) [MIM:603387]
1270 O00462 (MANBA) R W 182 rs374377679 Disease: Mannosidosis , beta A, lysosomal (MANSB) [MIM:248510]
1271 O00462 (MANBA) V I 253 rs227368 Benign
1272 O00462 (MANBA) V L 253 rs227368 Benign
1273 O00462 (MANBA) G E 392 - Disease: Mannosidosis , beta A, lysosomal (MANSB) [MIM:248510]
1274 O00462 (MANBA) S P 505 rs121434334 Disease: Mannosidosis , beta A, lysosomal (MANSB) [MIM:248510]
1275 O00462 (MANBA) T M 701 rs2866413 Benign
1276 O00463 (TRAF5) V G 120 rs3946808 Benign
1277 O00463 (TRAF5) N H 186 rs2271458 Benign
1278 O00463 (TRAF5) H Y 268 rs200398415 Benign
1279 O00463 (TRAF5) L V 358 rs2230780 Benign
1280 O00468 (AGRN) V L 23 - Benign
1281 O00468 (AGRN) D N 58 - Benign
1282 O00468 (AGRN) G S 76 - Disease: Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
1283 O00468 (AGRN) N I 105 - Disease: Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
1284 O00468 (AGRN) T M 267 - Benign
1285 O00468 (AGRN) A S 375 rs138031468 Benign
1286 O00468 (AGRN) E V 728 rs113288277 Benign
1287 O00468 (AGRN) A V 745 - Benign
1288 O00468 (AGRN) Q R 852 rs9697293 Benign
1289 O00468 (AGRN) V M 984 - Benign
1290 O00468 (AGRN) L F 1088 rs150132566 Benign
1291 O00468 (AGRN) T K 1118 rs149159118 Benign
1292 O00468 (AGRN) Q R 1135 rs142416636 Benign
1293 O00468 (AGRN) P L 1240 rs142620337 Benign
1294 O00468 (AGRN) G R 1341 - Benign
1295 O00468 (AGRN) P L 1451 - Benign
1296 O00468 (AGRN) A T 1514 rs111818381 Benign
1297 O00468 (AGRN) Q H 1565 rs199876002 Benign
1298 O00468 (AGRN) V I 1666 rs17160775 Benign
1299 O00468 (AGRN) R Q 1671 - Benign
1300 O00468 (AGRN) R P 1698 - Benign
1301 O00468 (AGRN) G R 1709 - Disease: Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
1302 O00468 (AGRN) V F 1727 - Disease: Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
1303 O00468 (AGRN) R H 1734 rs145444272 Benign
1304 O00468 (AGRN) D N 1789 - Benign
1305 O00468 (AGRN) G R 1875 - Disease: Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
1306 O00468 (AGRN) G V 2046 - Benign
1307 O00469 (PLOD2) R H 598 rs121434461 Disease: Bruck syndrome 2 (BRKS2) [MIM:609220]
1308 O00469 (PLOD2) G C 601 rs762788421 Benign
1309 O00469 (PLOD2) G V 601 rs121434460 Disease: Bruck syndrome 2 (BRKS2) [MIM:609220]
1310 O00469 (PLOD2) T I 608 rs121434459 Disease: Bruck syndrome 2 (BRKS2) [MIM:609220]
1311 O00470 (MEIS1) R H 272 rs61752693 Benign
1312 O00471 (EXOC5) E D 10 rs35132458 Benign
1313 O00472 (ELL2) A T 298 rs3815768 Benign
1314 O00476 (SLC17A3) N H 68 rs387907257 Benign
1315 O00476 (SLC17A3) A T 100 rs1165165 Benign
1316 O00476 (SLC17A3) G R 201 rs56027330 Benign
1317 O00476 (SLC17A3) F S 226 rs387907256 Benign
1318 O00476 (SLC17A3) P L 300 rs11966370 Benign
1319 O00481 (BTN3A1) R H 15 rs56161420 Benign
1320 O00481 (BTN3A1) S N 224 rs1057933 Benign
1321 O00481 (BTN3A1) R T 282 rs41266839 Benign
1322 O00481 (BTN3A1) P T 456 rs4712990 Benign
1323 O00488 (ZNF593) R Q 6 rs2232649 Benign
1324 O00499 (BIN1) R C 24 - Disease: -
1325 O00499 (BIN1) K N 35 rs121909273 Disease: Myopathy, centronuclea r, 2 (CNM2) [MIM:255200]
1326 O00499 (BIN1) R C 145 rs1249621033 Disease: Myopathy, centronuclea r, 2 (CNM2) [MIM:255200]
1327 O00499 (BIN1) D N 151 rs121909274 Disease: Myopathy, centronuclea r, 2 (CNM2) [MIM:255200]
1328 O00499 (BIN1) R Q 154 rs267606681 Disease: Myopathy, centronuclea r, 2 (CNM2) [MIM:255200]
1329 O00499 (BIN1) R C 234 rs777176261 Disease: Myopathy, centronuclea r, 2 (CNM2) [MIM:255200]
1330 O00505 (KPNA3) P S 291 rs1043015 Benign
1331 O00506 (STK25) Q H 64 rs34341643 Benign
1332 O00507 (USP9Y) E D 65 rs7067496 Benign
1333 O00507 (USP9Y) R C 211 rs2032596 Benign
1334 O00507 (USP9Y) P S 1035 rs20319 Benign
1335 O00507 (USP9Y) A T 1060 rs20320 Benign
1336 O00507 (USP9Y) A S 1705 rs2032606 Benign
1337 O00512 (BCL9) P S 671 rs3820129 Benign
1338 O00512 (BCL9) R K 782 rs34002844 Benign
1339 O00515 (LAD1) A S 56 rs3738281 Benign
1340 O00515 (LAD1) A P 155 rs1128316 Benign
1341 O00515 (LAD1) L P 243 rs12088790 Benign
1342 O00515 (LAD1) P Q 279 rs11805972 Benign
1343 O00515 (LAD1) K E 323 rs4128458 Benign
1344 O00515 (LAD1) T S 503 rs2275866 Benign
1345 O00519 (FAAH) P T 129 rs324420 Benign
1346 O00522 (KRIT1) F S 97 - Disease: Cerebral cavernous malformation s 1 (CCM1) [MIM:116860]
1347 O00522 (KRIT1) K E 569 - Disease: Cerebral cavernous malformation s 1 (CCM1) [MIM:116860]
1348 O00526 (UPK2) A S 47 rs3886020 Benign
1349 O00526 (UPK2) T M 160 rs45530531 Benign
1350 O00533 (CHL1) L F 17 rs2272522 Benign
1351 O00533 (CHL1) T A 287 rs13060847 Benign
1352 O00533 (CHL1) I V 1034 rs6442827 Benign
1353 O00534 (VWA5A) S G 202 rs35496433 Benign
1354 O00534 (VWA5A) E K 205 rs35215239 Benign
1355 O00534 (VWA5A) S I 499 rs2276054 Benign
1356 O00534 (VWA5A) R K 506 rs2276053 Benign
1357 O00534 (VWA5A) R C 757 rs117689747 Benign
1358 O00534 (VWA5A) H R 759 rs200614108 Benign
1359 O00541 (PES1) T S 264 rs42942 Benign
1360 O00541 (PES1) D H 370 rs11541876 Benign
1361 O00541 (PES1) A T 411 rs34123894 Benign
1362 O00548 (DLL1) C F 179 - Disease: Neurodevelop mental disorder with non-specific brain abnormalitie s and with or without seizures (NEDBAS) [MIM:618709]
1363 O00548 (DLL1) V M 444 rs16901311 Benign
1364 O00555 (CACNA1A) A V 21 rs15999 Benign
1365 O00555 (CACNA1A) E Q 101 rs886037944 Disease: Epileptic encephalopat hy, early infantile, 42 (EIEE42) [MIM:617106]
1366 O00555 (CACNA1A) R Q 192 rs121908211 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1367 O00555 (CACNA1A) R K 195 rs121908222 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1368 O00555 (CACNA1A) S L 218 rs121908225 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1369 O00555 (CACNA1A) Y C 248 rs121908238 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1370 O00555 (CACNA1A) H Y 253 rs121908228 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1371 O00555 (CACNA1A) C R 256 rs121908231 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1372 O00555 (CACNA1A) C Y 287 rs121908236 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1373 O00555 (CACNA1A) G R 293 rs121908215 Disease: Spinocerebel lar ataxia 6 (SCA6) [MIM:183086]
1374 O00555 (CACNA1A) E K 388 - Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1375 O00555 (CACNA1A) L F 389 rs121908239 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1376 O00555 (CACNA1A) A T 405 rs121908245 Disease: Spinocerebel lar ataxia 6 (SCA6) [MIM:183086]
1377 O00555 (CACNA1A) A T 453 rs41276886 Benign
1378 O00555 (CACNA1A) T M 500 rs121908240 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1379 O00555 (CACNA1A) R Q 582 rs121908217 Disease: Spinocerebel lar ataxia 6 (SCA6) [MIM:183086]
1380 O00555 (CACNA1A) G D 637 rs121908246 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1381 O00555 (CACNA1A) T M 665 rs121908212 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1382 O00555 (CACNA1A) A T 712 rs886037945 Disease: Epileptic encephalopat hy, early infantile, 42 (EIEE42) [MIM:617106]
1383 O00555 (CACNA1A) V A 713 rs121908213 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1384 O00555 (CACNA1A) D E 714 rs121908218 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1385 O00555 (CACNA1A) E A 731 rs16019 Benign
1386 O00555 (CACNA1A) M T 797 rs121908241 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1387 O00555 (CACNA1A) P R 896 rs121908242 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1388 O00555 (CACNA1A) P S 913 rs16020 Benign
1389 O00555 (CACNA1A) E D 917 rs16022 Benign
1390 O00555 (CACNA1A) E V 992 rs16023 Benign
1391 O00555 (CACNA1A) E K 1014 rs16024 Benign
1392 O00555 (CACNA1A) G S 1104 rs16027 Benign
1393 O00555 (CACNA1A) P L 1172 rs16028 Benign
1394 O00555 (CACNA1A) K E 1334 rs121908223 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1395 O00555 (CACNA1A) D Y 1337 - Disease: Spinocerebel lar ataxia 6 (SCA6) [MIM:183086]
1396 O00555 (CACNA1A) R Q 1345 rs121908230 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1397 O00555 (CACNA1A) Y C 1383 rs121908219 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1398 O00555 (CACNA1A) F C 1402 rs121908227 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1399 O00555 (CACNA1A) W R 1435 - Disease: Epileptic encephalopat hy, early infantile, 42 (EIEE42) [MIM:617106]
1400 O00555 (CACNA1A) V L 1455 rs121908237 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1401 O00555 (CACNA1A) G R 1481 rs121908232 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1402 O00555 (CACNA1A) F S 1489 rs121908233 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1403 O00555 (CACNA1A) V I 1492 rs121908234 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1404 O00555 (CACNA1A) A S 1507 rs886037946 Disease: Epileptic encephalopat hy, early infantile, 42 (EIEE42) [MIM:617106]
1405 O00555 (CACNA1A) R H 1660 rs121908216 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1406 O00555 (CACNA1A) R Q 1663 rs121908247 Disease: Spinocerebel lar ataxia 6 (SCA6) [MIM:183086]
1407 O00555 (CACNA1A) R W 1666 rs121908220 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1408 O00555 (CACNA1A) R P 1672 rs1057519429 Benign
1409 O00555 (CACNA1A) R C 1678 rs121908243 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1410 O00555 (CACNA1A) W R 1682 rs121908221 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1411 O00555 (CACNA1A) V I 1694 rs121908224 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1412 O00555 (CACNA1A) H L 1735 rs121908229 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1413 O00555 (CACNA1A) E K 1755 rs121908226 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1414 O00555 (CACNA1A) I L 1809 rs121908214 Disease: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
1415 O00555 (CACNA1A) C R 1868 rs121908244 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1416 O00555 (CACNA1A) R C 2134 rs121908235 Disease: Episodic ataxia 2 (EA2) [MIM:108500]
1417 O00555 (CACNA1A) P S 2395 rs16056 Benign
1418 O00560 (SDCBP) N S 69 rs1127509 Benign
1419 O00566 (MPHOSPH10) E A 69 rs10199088 Benign
1420 O00566 (MPHOSPH10) R H 115 rs13010513 Benign
1421 O00566 (MPHOSPH10) D N 140 rs10175940 Benign
1422 O00566 (MPHOSPH10) E D 229 rs1813160 Benign
1423 O00566 (MPHOSPH10) L M 425 rs3732240 Benign
1424 O00566 (MPHOSPH10) E K 634 rs6574 Benign
1425 O00566 (MPHOSPH10) A T 639 rs4852764 Benign
1426 O00567 (NOP56) I V 121 rs2273137 Benign
1427 O00567 (NOP56) M T 475 rs6753 Benign
1428 O00567 (NOP56) V A 576 rs5856 Benign
1429 O00571 (DDX3X) I T 214 - Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1430 O00571 (DDX3X) A V 233 rs796052223 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1431 O00571 (DDX3X) L P 235 rs796052224 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1432 O00571 (DDX3X) V F 300 - Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1433 O00571 (DDX3X) R H 326 rs797045025 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1434 O00571 (DDX3X) R Q 351 rs1057518707 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1435 O00571 (DDX3X) R C 362 rs797045026 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1436 O00571 (DDX3X) R C 376 rs796052231 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1437 O00571 (DDX3X) L P 392 rs796052232 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1438 O00571 (DDX3X) Q P 417 rs796052233 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1439 O00571 (DDX3X) R G 475 rs1064794574 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1440 O00571 (DDX3X) R S 480 - Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1441 O00571 (DDX3X) R H 488 rs796052235 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1442 O00571 (DDX3X) I T 507 rs797045024 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1443 O00571 (DDX3X) N I 509 - Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1444 O00571 (DDX3X) I T 514 rs796052226 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1445 O00571 (DDX3X) R H 534 - Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1446 O00571 (DDX3X) P L 568 rs1057519430 Disease: Mental retardation, X-linked 102 (MRX102) [MIM:300958]
1447 O00574 (CXCR6) E K 3 rs2234355 Benign
1448 O00584 (RNASET2) C R 184 rs121918137 Disease: Leukoencepha lopathy, cystic, without megalencepha ly (LCWM) [MIM:612951]
1449 O00584 (RNASET2) R W 236 rs11159 Benign
1450 O00587 (MFNG) R C 302 rs8192548 Benign
1451 O00590 (ACKR2) V A 41 rs2228467 Benign
1452 O00590 (ACKR2) A V 248 rs2228469 Benign
1453 O00590 (ACKR2) L V 311 rs6779520 Benign
1454 O00590 (ACKR2) Y S 373 rs2228468 Benign
1455 O00591 (GABRP) F L 391 rs1063310 Benign
1456 O00592 (PODXL) T R 60 - Benign
1457 O00592 (PODXL) G S 112 rs3735035 Benign
1458 O00592 (PODXL) T P 126 rs55698400 Benign
1459 O00592 (PODXL) S L 194 rs12670788 Benign
1460 O00592 (PODXL) P A 298 rs35893129 Benign
1461 O00592 (PODXL) V I 358 rs3212298 Benign
1462 O00602 (FCN1) R Q 93 rs56345770 Benign
1463 O00602 (FCN1) Y H 126 rs771359747 Benign
1464 O00622 (CCN1) R W 334 rs9658587 Benign
1465 O00623 (PEX12) R S 34 rs147530802 Disease: Peroxisome biogenesis disorder complementat ion group 3 (PBD-CG3) [MIM:614859]
1466 O00623 (PEX12) L I 245 rs12941376 Benign
1467 O00623 (PEX12) S F 320 rs28936697 Disease: Peroxisome biogenesis disorder 3B (PBD3B) [MIM:266510]
1468 O00625 (PIR) V A 228 rs34104000 Benign
1469 O00626 (CCL22) D A 2 rs4359426 Benign
1470 O00628 (PEX7) T P 14 rs61753233 Disease: Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]
1471 O00628 (PEX7) A V 218 rs121909151 Disease: Rhizomelic chondrodyspl asia punctata 1 (RCDP1) [MIM:215100]
1472 O00634 (NTN3) P S 425 rs34818219 Benign
1473 O00635 (TRIM38) G R 421 rs10317 Benign
1474 O00712 (NFIB) K T 114 rs1554709683 Disease: Macrocephaly , acquired, with impaired intellectual development (MACID) [MIM:618286]
1475 O00712 (NFIB) K E 126 rs1554709662 Disease: Macrocephaly , acquired, with impaired intellectual development (MACID) [MIM:618286]
1476 O00712 (NFIB) L P 132 rs1554709654 Disease: Macrocephaly , acquired, with impaired intellectual development (MACID) [MIM:618286]
1477 O00712 (NFIB) S L 356 rs1554639196 Benign
1478 O00716 (E2F3) G R 344 rs4134973 Benign
1479 O00716 (E2F3) D N 389 rs4134982 Benign
1480 O00744 (WNT10B) H Y 77 rs151284263 Benign
1481 O00744 (WNT10B) R Q 211 rs779326570 Disease: Tooth agenesis, selective, 8 (STHAG8) [MIM:617073]
1482 O00744 (WNT10B) I T 285 rs146010731 Benign
1483 O00744 (WNT10B) P S 301 rs35034312 Benign
1484 O00744 (WNT10B) R W 332 rs121918349 Disease: Split- hand/foot malformation 6 (SHFM6) [MIM:225300]
1485 O00748 (CES2) R W 34 rs72547531 Benign
1486 O00748 (CES2) R H 206 rs8192924 Benign
1487 O00754 (MAN2B1) C F 55 rs864621975 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1488 O00754 (MAN2B1) H L 72 rs387906261 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1489 O00754 (MAN2B1) D E 74 rs746702002 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1490 O00754 (MAN2B1) A P 95 rs754036398 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1491 O00754 (MAN2B1) Y H 99 rs794727484 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1492 O00754 (MAN2B1) D N 159 rs864621976 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1493 O00754 (MAN2B1) P R 197 rs864621977 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1494 O00754 (MAN2B1) H L 200 rs864621978 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1495 O00754 (MAN2B1) H N 200 rs772108001 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1496 O00754 (MAN2B1) R P 202 rs864621979 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1497 O00754 (MAN2B1) R W 229 rs763257568 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1498 O00754 (MAN2B1) P L 248 rs117843968 Benign
1499 O00754 (MAN2B1) A S 250 rs3745650 Benign
1500 O00754 (MAN2B1) P L 263 rs746808159 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1501 O00754 (MAN2B1) L V 278 rs1054486 Benign
1502 O00754 (MAN2B1) P S 282 rs45576136 Benign
1503 O00754 (MAN2B1) T I 312 rs1054487 Benign
1504 O00754 (MAN2B1) S L 318 rs774034389 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1505 O00754 (MAN2B1) R Q 337 rs1133330 Benign
1506 O00754 (MAN2B1) L P 352 rs864621980 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1507 O00754 (MAN2B1) T P 355 rs864621992 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1508 O00754 (MAN2B1) P R 356 rs121434333 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1509 O00754 (MAN2B1) P L 379 rs864621981 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1510 O00754 (MAN2B1) G C 390 rs864621982 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1511 O00754 (MAN2B1) N S 413 rs35836657 Benign
1512 O00754 (MAN2B1) G V 420 rs772853856 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1513 O00754 (MAN2B1) H Y 445 rs864621983 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1514 O00754 (MAN2B1) G C 451 rs368899357 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1515 O00754 (MAN2B1) S F 453 rs864621984 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1516 O00754 (MAN2B1) S Y 453 rs864621984 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1517 O00754 (MAN2B1) V E 457 rs864621985 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1518 O00754 (MAN2B1) A S 481 rs34544747 Benign
1519 O00754 (MAN2B1) C S 501 rs747721968 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1520 O00754 (MAN2B1) L P 565 rs864621986 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1521 O00754 (MAN2B1) P L 669 rs75029862 Benign
1522 O00754 (MAN2B1) W R 714 rs864621993 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1523 O00754 (MAN2B1) T R 745 rs864621987 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1524 O00754 (MAN2B1) R W 750 rs80338680 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1525 O00754 (MAN2B1) G R 800 rs398123456 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1526 O00754 (MAN2B1) G W 800 rs398123456 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1527 O00754 (MAN2B1) G D 801 rs864621994 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1528 O00754 (MAN2B1) L P 809 rs80338681 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1529 O00754 (MAN2B1) G R 891 rs864621988 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1530 O00754 (MAN2B1) L P 892 rs864621989 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1531 O00754 (MAN2B1) R C 916 rs864621990 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1532 O00754 (MAN2B1) R H 916 rs758765126 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1533 O00754 (MAN2B1) R P 950 rs139041112 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1534 O00754 (MAN2B1) L R 956 rs768233248 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1535 O00754 (MAN2B1) F S 1000 rs864621991 Disease: Mannosidosis , alpha B, lysosomal (MANSA) [MIM:248500]
1536 O00755 (WNT7A) E K 72 rs397514666 Disease: Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
1537 O00755 (WNT7A) A T 109 rs104893832 Disease: Fuhrmann syndrome (FUHRS) [MIM:228930]
1538 O00755 (WNT7A) R W 222 rs397514643 Disease: Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
1539 O00755 (WNT7A) R C 292 rs104893835 Disease: Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
1540 O00757 (FBP2) V L 86 rs573212 Benign
1541 O00762 (UBE2C) G D 25 - Benign
1542 O00763 (ACACB) I V 552 rs16940029 Benign
1543 O00763 (ACACB) A T 651 rs2300455 Benign
1544 O00763 (ACACB) V I 2141 rs2075260 Benign
1545 O00764 (PDXK) R Q 220 - Disease: Neuropathy, hereditary motor and sensory, 6C, with optic atrophy (HMSN6C) [MIM:618511]
1546 O00764 (PDXK) A T 228 - Disease: Neuropathy, hereditary motor and sensory, 6C, with optic atrophy (HMSN6C) [MIM:618511]
1547 O00767 (SCD) M L 224 rs2234970 Benign
1548 O14490 (DLGAP1) R Q 816 rs35822832 Benign
1549 O14497 (ARID1A) P S 120 rs571264557 Benign
1550 O14497 (ARID1A) R W 1658 rs1442666063 Benign
1551 O14497 (ARID1A) I F 1907 rs139230162 Benign
1552 O14497 (ARID1A) G R 2087 rs1553153748 Benign
1553 O14508 (SOCS2) S N 52 rs3741676 Benign
1554 O14513 (NCKAP5) R Q 250 rs58963837 Benign
1555 O14513 (NCKAP5) S T 600 rs17325719 Benign
1556 O14513 (NCKAP5) V I 937 rs12611515 Benign
1557 O14513 (NCKAP5) I T 977 rs12691830 Benign
1558 O14513 (NCKAP5) N Y 1093 rs16841277 Benign
1559 O14513 (NCKAP5) P Q 1260 rs13016342 Benign
1560 O14513 (NCKAP5) V A 1403 rs2278752 Benign
1561 O14520 (AQP7) R C 12 rs139297434 Benign
1562 O14520 (AQP7) L V 38 rs2381003 Benign
1563 O14520 (AQP7) V L 59 rs4008659 Benign
1564 O14520 (AQP7) K T 63 rs4008658 Benign
1565 O14520 (AQP7) G V 264 rs62542743 Benign
1566 O14521 (SDHD) G S 12 rs34677591 Benign
1567 O14521 (SDHD) H R 50 rs11214077 Benign
1568 O14521 (SDHD) E K 69 rs202198133 Disease: Mitochondria l complex II deficiency (MT-C2D) [MIM:252011]
1569 O14521 (SDHD) P L 81 rs80338844 Disease: Pheochromocy toma (PCC) [MIM:171300]
1570 O14521 (SDHD) D G 92 rs786205436 Disease: Mitochondria l complex II deficiency (MT-C2D) [MIM:252011]
1571 O14521 (SDHD) D Y 92 rs80338845 Disease: Pheochromocy toma (PCC) [MIM:171300]
1572 O14521 (SDHD) H L 102 rs104894302 Disease: Paragangliom as 1 (PGL1) [MIM:168000]
1573 O14521 (SDHD) Y C 114 rs104894304 Disease: Paragangliom as 1 (PGL1) [MIM:168000]
1574 O14521 (SDHD) L P 139 rs80338847 Disease: Paragangliom as 1 (PGL1) [MIM:168000]
1575 O14521 (SDHD) G V 148 rs1555187633 Disease: Paragangliom as 1 (PGL1) [MIM:168000]
1576 O14522 (PTPRT) A P 29 rs2867655 Benign
1577 O14522 (PTPRT) M V 76 rs17811401 Benign
1578 O14523 (C2CD2L) R W 413 rs2239896 Benign
1579 O14524 (NEMP1) I V 217 rs17546579 Benign
1580 O14525 (ASTN1) H R 932 rs2228956 Benign
1581 O14525 (ASTN1) H Q 942 rs2281180 Benign
1582 O14525 (ASTN1) G R 1270 rs12118933 Benign
1583 O14525 (ASTN1) R G 1278 rs12118933 Benign
1584 O14529 (CUX2) E K 590 - Disease: Epileptic encephalopat hy, early infantile, 67 (EIEE67) [MIM:618141]
1585 O14529 (CUX2) V L 1472 rs6490073 Benign
1586 O14530 (TXNDC9) L Q 14 rs11542369 Benign
1587 O14530 (TXNDC9) Q R 38 rs11542371 Benign
1588 O14543 (SOCS3) H Y 125 rs1061489 Benign
1589 O14556 (GAPDHS) D N 110 rs2285514 Benign
1590 O14558 (HSPB6) P L 20 rs11549029 Benign
1591 O14576 (DYNC1I1) N T 582 rs35077523 Benign
1592 O14578 (CIT) G E 7 rs36054900 Benign
1593 O14578 (CIT) R Q 9 rs56193743 Benign
1594 O14578 (CIT) G V 106 rs886037892 Disease: Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090]
1595 O14578 (CIT) K Q 126 rs886037893 Disease: Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090]
1596 O14578 (CIT) L F 183 - Benign
1597 O14578 (CIT) D V 230 rs886037894 Disease: Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090]
1598 O14579 (COPE) S C 13 rs2231987 Benign
1599 O14579 (COPE) T I 117 rs10330 Benign
1600 O14581 (OR7A17) V A 37 rs10405148 Benign
1601 O14581 (OR7A17) I T 46 rs10405129 Benign
1602 O14581 (OR7A17) A S 69 rs10404119 Benign
1603 O14581 (OR7A17) A T 237 rs13345394 Benign
1604 O14593 (RFXANK) E D 48 rs34282046 Benign
1605 O14593 (RFXANK) L P 195 rs751386365 Disease: Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
1606 O14593 (RFXANK) Q E 251 rs1802498 Benign
1607 O14594 (NCAN) A T 70 rs2228601 Benign
1608 O14594 (NCAN) P S 92 rs2228603 Benign
1609 O14594 (NCAN) A V 1254 rs1064389 Benign
1610 O14610 (GNGT2) L F 11 rs9895097 Benign
1611 O14613 (CDC42EP2) N S 176 rs4149839 Benign
1612 O14613 (CDC42EP2) I F 191 rs7120634 Benign
1613 O14617 (AP3D1) G R 541 rs34569645 Benign
1614 O14617 (AP3D1) I V 1072 rs25673 Benign
1615 O14618 (CCS) R W 163 rs142340643 Benign
1616 O14625 (CXCL11) N S 55 rs4859596 Benign
1617 O14626 (GPR171) I V 283 rs3732756 Benign
1618 O14633 (LCE2B) I S 51 rs3737859 Benign
1619 O14633 (LCE2B) R Q 83 rs28391399 Benign
1620 O14638 (ENPP3) V M 620 rs9321309 Benign
1621 O14638 (ENPP3) N H 744 rs36094194 Benign
1622 O14638 (ENPP3) S N 786 rs17601580 Benign
1623 O14639 (ABLIM1) P T 434 rs11593544 Benign
1624 O14639 (ABLIM1) R G 637 rs7091419 Benign
1625 O14645 (DNALI1) A V 65 rs11749 Benign
1626 O14646 (CHD1) R G 141 rs1064795875 Disease: Pilarowski- Bjornsson syndrome (PILBOS) [MIM:617682]
1627 O14646 (CHD1) P T 264 rs10062803 Benign
1628 O14646 (CHD1) R K 460 rs1554078856 Disease: Pilarowski- Bjornsson syndrome (PILBOS) [MIM:617682]
1629 O14646 (CHD1) R Q 618 rs1554078349 Disease: Pilarowski- Bjornsson syndrome (PILBOS) [MIM:617682]
1630 O14646 (CHD1) R Q 1708 rs1293161341 Disease: Pilarowski- Bjornsson syndrome (PILBOS) [MIM:617682]
1631 O14647 (CHD2) W R 548 rs864309537 Disease: Epileptic encephalopat hy, childhood- onset (EEOC) [MIM:615369]
1632 O14647 (CHD2) L P 823 rs864309540 Disease: Epileptic encephalopat hy, childhood- onset (EEOC) [MIM:615369]
1633 O14647 (CHD2) G A 1574 rs56227200 Benign
1634 O14649 (KCNK3) T K 8 rs1085307438 Disease: Pulmonary hypertension , primary, 4 (PPH4) [MIM:615344]
1635 O14649 (KCNK3) G R 97 rs398123040 Disease: Pulmonary hypertension , primary, 4 (PPH4) [MIM:615344]
1636 O14649 (KCNK3) E K 182 rs398123042 Disease: Pulmonary hypertension , primary, 4 (PPH4) [MIM:615344]
1637 O14649 (KCNK3) Y C 192 rs398123043 Disease: Pulmonary hypertension , primary, 4 (PPH4) [MIM:615344]
1638 O14649 (KCNK3) G D 203 rs398123039 Disease: Pulmonary hypertension , primary, 4 (PPH4) [MIM:615344]
1639 O14649 (KCNK3) V L 221 rs398123041 Disease: Pulmonary hypertension , primary, 4 (PPH4) [MIM:615344]
1640 O14653 (GOSR2) R K 67 rs197922 Benign
1641 O14653 (GOSR2) G W 144 rs387906881 Disease: Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018]
1642 O14654 (IRS4) L F 34 rs1801162 Benign
1643 O14654 (IRS4) N K 508 rs34287560 Benign
1644 O14654 (IRS4) H D 879 rs1801164 Benign
1645 O14654 (IRS4) D Y 1230 rs28546943 Benign
1646 O14656 (TOR1A) F I 205 rs267607134 Disease: Dystonia 1, torsion, autosomal dominant (DYT1) [MIM:128100]
1647 O14656 (TOR1A) D H 216 rs1801968 Benign
1648 O14656 (TOR1A) D H 264 - Benign
1649 O14656 (TOR1A) R Q 288 rs727502811 Disease: Dystonia 1, torsion, autosomal dominant (DYT1) [MIM:128100]
1650 O14657 (TOR1B) A T 54 rs10988518 Benign
1651 O14669 (PRRG2) P S 22 rs35016366 Benign
1652 O14669 (PRRG2) G C 116 rs2288920 Benign
1653 O14672 (ADAM10) P S 139 rs483352912 Disease: Reticulate acropigmenta tion of Kitamura (RAK) [MIM:615537]
1654 O14672 (ADAM10) Q H 170 rs61751103 Disease: Alzheimer disease 18 (AD18) [MIM:615590]
1655 O14672 (ADAM10) R G 181 rs145518263 Disease: Alzheimer disease 18 (AD18) [MIM:615590]
1656 O14672 (ADAM10) C Y 524 rs483352916 Disease: Reticulate acropigmenta tion of Kitamura (RAK) [MIM:615537]
1657 O14678 (ABCD4) V I 172 rs34992370 Benign
1658 O14678 (ABCD4) A T 304 rs4148077 Benign
1659 O14678 (ABCD4) Y C 319 rs201777056 Disease: Methylmaloni c aciduria and homocystinur ia type cblJ (MAHCJ) [MIM:614857]
1660 O14678 (ABCD4) T R 350 rs35073715 Benign
1661 O14678 (ABCD4) E K 368 rs3742801 Benign
1662 O14682 (ENC1) I S 256 rs16872126 Benign
1663 O14686 (KMT2D) A T 476 rs1064210 Benign
1664 O14686 (KMT2D) P Q 647 rs200088180 Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1665 O14686 (KMT2D) P T 692 rs202076833 Benign
1666 O14686 (KMT2D) P L 813 rs75226229 Benign
1667 O14686 (KMT2D) P S 2382 rs3741626 Benign
1668 O14686 (KMT2D) R C 2460 rs570260017 Benign
1669 O14686 (KMT2D) P L 2557 rs189888707 Benign
1670 O14686 (KMT2D) M L 2652 rs147706410 Benign
1671 O14686 (KMT2D) M V 3398 rs75937132 Benign
1672 O14686 (KMT2D) D G 3419 rs146044282 Benign
1673 O14686 (KMT2D) S P 4010 rs80132640 Benign
1674 O14686 (KMT2D) R S 4357 rs533214351 Benign
1675 O14686 (KMT2D) R C 5030 rs1555185875 Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1676 O14686 (KMT2D) R C 5048 rs398123724 Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1677 O14686 (KMT2D) R H 5048 rs886041404 Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1678 O14686 (KMT2D) C F 5109 - Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1679 O14686 (KMT2D) R Q 5154 rs886043497 Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1680 O14686 (KMT2D) R H 5179 rs267607237 Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1681 O14686 (KMT2D) R C 5214 - Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1682 O14686 (KMT2D) R H 5214 rs398123729 Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1683 O14686 (KMT2D) R H 5224 rs3782356 Benign
1684 O14686 (KMT2D) R L 5340 - Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1685 O14686 (KMT2D) T M 5464 rs267607238 Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1686 O14686 (KMT2D) R T 5471 - Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1687 O14686 (KMT2D) S F 5498 - Disease: Kabuki syndrome 1 (KABUK1) [MIM:147920]
1688 O14717 (TRDMT1) H Y 101 rs11254413 Benign
1689 O14730 (RIOK3) L V 336 rs35401850 Benign
1690 O14730 (RIOK3) R Q 441 rs33969048 Benign
1691 O14730 (RIOK3) S L 447 rs56282762 Benign
1692 O14732 (IMPA2) A T 88 rs16976948 Benign
1693 O14733 (MAP2K7) N S 118 rs56316660 Benign
1694 O14733 (MAP2K7) R C 138 rs56106612 Benign
1695 O14733 (MAP2K7) A T 195 rs55800262 Benign
1696 O14733 (MAP2K7) L F 259 rs1053566 Benign
1697 O14735 (CDIPT) R C 199 rs1802002 Benign
1698 O14745 (SLC9A3R1) E A 68 rs139622189 Disease: Nephrolithia sis/osteopor osis, hypophosphat emic, 2 (NPHLOP2) [MIM:612287]
1699 O14745 (SLC9A3R1) L V 110 rs35910969 Disease: Nephrolithia sis/osteopor osis, hypophosphat emic, 2 (NPHLOP2) [MIM:612287]
1700 O14745 (SLC9A3R1) R Q 153 rs41282065 Disease: Nephrolithia sis/osteopor osis, hypophosphat emic, 2 (NPHLOP2) [MIM:612287]
1701 O14745 (SLC9A3R1) E K 225 rs119486097 Disease: Nephrolithia sis/osteopor osis, hypophosphat emic, 2 (NPHLOP2) [MIM:612287]
1702 O14746 (TERT) L Q 55 rs387907247 Benign
1703 O14746 (TERT) P A 65 rs544215765 Benign
1704 O14746 (TERT) V M 170 rs387907248 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1705 O14746 (TERT) A T 202 rs121918661 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1706 O14746 (TERT) A T 279 rs61748181 Benign
1707 O14746 (TERT) V M 299 rs756624928 Benign
1708 O14746 (TERT) H Y 412 rs34094720 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1709 O14746 (TERT) K N 570 - Disease: Aplastic anemia (AA) [MIM:609135]
1710 O14746 (TERT) R Q 631 rs199422294 Disease: Aplastic anemia (AA) [MIM:609135]
1711 O14746 (TERT) G D 682 rs199422295 Disease: Aplastic anemia (AA) [MIM:609135]
1712 O14746 (TERT) V M 694 rs121918662 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1713 O14746 (TERT) P S 704 rs199422297 Disease: Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]
1714 O14746 (TERT) A T 716 rs387907249 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1715 O14746 (TERT) P R 721 rs199422299 Disease: Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]
1716 O14746 (TERT) T M 726 rs149566858 Disease: Aplastic anemia (AA) [MIM:609135]
1717 O14746 (TERT) Y C 772 rs121918663 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1718 O14746 (TERT) P L 785 rs483352771 Disease: Aplastic anemia (AA) [MIM:609135]
1719 O14746 (TERT) V I 791 rs141425941 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1720 O14746 (TERT) R C 811 rs199422301 Disease: Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]
1721 O14746 (TERT) L F 841 - Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1722 O14746 (TERT) R H 865 rs121918666 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1723 O14746 (TERT) V M 867 rs201159197 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1724 O14746 (TERT) R W 901 rs199422304 Disease: Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]
1725 O14746 (TERT) K N 902 rs121918665 Disease: Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989]
1726 O14746 (TERT) K R 902 rs387907250 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1727 O14746 (TERT) P L 923 rs387907251 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1728 O14746 (TERT) S R 948 rs34062885 Benign
1729 O14746 (TERT) R W 979 rs199422305 Disease: Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989]
1730 O14746 (TERT) V F 1025 - Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1731 O14746 (TERT) A T 1062 rs35719940 Benign
1732 O14746 (TERT) V M 1090 rs121918664 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 1 (PFBMFT1) [MIM:614742]
1733 O14746 (TERT) T M 1110 rs199422306 Benign
1734 O14746 (TERT) F L 1127 rs1176273130 Disease: Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989]
1735 O14757 (CHEK1) R Q 156 rs3731410 Benign
1736 O14757 (CHEK1) E V 223 rs35817404 Benign
1737 O14757 (CHEK1) V M 312 rs34097480 Benign
1738 O14757 (CHEK1) I V 471 rs506504 Benign
1739 O14763 (TNFRSF10B) P L 32 rs1129424 Benign
1740 O14763 (TNFRSF10B) A V 67 rs1047266 Benign
1741 O14763 (TNFRSF10B) V A 191 rs13265018 Benign
1742 O14764 (GABRD) P S 62 - Benign
1743 O14764 (GABRD) E A 177 rs121434580 Disease: Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060]
1744 O14764 (GABRD) R H 220 rs41307846 Benign
1745 O14772 (FPGT) P L 461 rs55882158 Benign
1746 O14773 (TPP1) S L 62 rs2734715 Benign
1747 O14773 (TPP1) S T 62 - Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1748 O14773 (TPP1) G R 77 rs121908195 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1749 O14773 (TPP1) Q R 100 rs1800746 Benign
1750 O14773 (TPP1) R Q 127 rs121908204 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1751 O14773 (TPP1) S P 153 rs1554902028 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1752 O14773 (TPP1) R H 175 rs764922748 Benign
1753 O14773 (TPP1) R C 185 rs34758634 Benign
1754 O14773 (TPP1) P L 202 rs121908205 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1755 O14773 (TPP1) R C 206 rs28940573 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1756 O14773 (TPP1) R H 206 rs121908209 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1757 O14773 (TPP1) Y H 209 rs1218678626 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1758 O14773 (TPP1) R Q 266 rs757953998 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1759 O14773 (TPP1) V M 277 rs121908207 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1760 O14773 (TPP1) Q P 278 rs796053439 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1761 O14773 (TPP1) Q R 278 rs796053439 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1762 O14773 (TPP1) G V 284 rs119455957 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1763 O14773 (TPP1) N S 286 rs119455958 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1764 O14773 (TPP1) I N 287 rs121908196 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1765 O14773 (TPP1) R Q 339 rs765380155 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1766 O14773 (TPP1) E K 343 rs121908197 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1767 O14773 (TPP1) T P 353 rs121908206 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1768 O14773 (TPP1) C R 365 rs119455953 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1769 O14773 (TPP1) C Y 365 rs119455954 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1770 O14773 (TPP1) S R 382 - Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1771 O14773 (TPP1) V D 385 rs121908198 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1772 O14773 (TPP1) G E 389 rs121908199 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1773 O14773 (TPP1) Q H 422 rs121908200 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1774 O14773 (TPP1) K N 428 - Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1775 O14773 (TPP1) R H 447 rs119455956 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1776 O14773 (TPP1) A V 448 - Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1777 O14773 (TPP1) A E 454 rs121908201 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1778 O14773 (TPP1) V G 466 rs398122959 Disease: Spinocerebel lar ataxia, autosomal recessive, 7 (SCAR7) [MIM:609270]
1779 O14773 (TPP1) G R 473 rs121908203 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1780 O14773 (TPP1) S L 475 rs121908202 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1781 O14773 (TPP1) F C 481 - Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1782 O14773 (TPP1) G R 482 rs121908208 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1783 O14773 (TPP1) G C 501 - Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1784 O14773 (TPP1) N Y 504 - Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1785 O14773 (TPP1) P S 544 rs121908210 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1786 O14773 (TPP1) W R 548 rs1348967263 Disease: Ceroid lipofuscinos is, neuronal, 2 (CLN2) [MIM:204500]
1787 O14775 (GNB5) S L 123 rs761399728 Disease: Language delay and attention deficit-hype ractivity disorder/cog nitive impairment with or without cardiac arrhythmia (LADCI) [MIM:617182]
1788 O14775 (GNB5) A V 213 rs34637551 Benign
1789 O14777 (NDC80) S A 66 rs16943490 Benign
1790 O14777 (NDC80) E D 348 rs12456560 Benign
1791 O14777 (NDC80) A P 605 rs9051 Benign
1792 O14782 (KIF3C) Q R 370 rs1465878 Benign
1793 O14782 (KIF3C) R Q 571 rs772693472 Disease: -
1794 O14786 (NRP1) V A 179 rs7079053 Benign
1795 O14786 (NRP1) F L 561 rs2228637 Benign
1796 O14786 (NRP1) V I 733 rs2228638 Benign
1797 O14788 (TNFSF11) M K 199 rs121909072 Disease: Osteopetrosi s, autosomal recessive 2 (OPTB2) [MIM:259710]
1798 O14791 (APOL1) E K 150 rs2239785 Benign
1799 O14791 (APOL1) M I 228 rs136175 Benign
1800 O14791 (APOL1) R K 255 rs136176 Benign
1801 O14791 (APOL1) D N 337 rs16996616 Benign
1802 O14791 (APOL1) S G 342 rs73885319 Disease: Focal segmental glomeruloscl erosis 4 (FSGS4) [MIM:612551]
1803 O14791 (APOL1) I M 384 rs60910145 Disease: Focal segmental glomeruloscl erosis 4 (FSGS4) [MIM:612551]
1804 O14792 (HS3ST1) P T 22 rs11559238 Benign
1805 O14792 (HS3ST1) K R 295 rs34719057 Benign
1806 O14793 (MSTN) A T 55 rs1805085 Benign
1807 O14793 (MSTN) K R 153 rs1805086 Benign
1808 O14793 (MSTN) I T 348 rs34780010 Benign
1809 O14793 (MSTN) R G 371 rs16823988 Benign
1810 O14795 (UNC13B) D E 238 rs35199210 Benign
1811 O14795 (UNC13B) E D 1232 rs12339582 Benign
1812 O14796 (SH2D1B) I T 36 rs35688243 Benign
1813 O14796 (SH2D1B) N K 122 rs34001279 Benign
1814 O14798 (TNFRSF10C) T N 199 rs12550828 Benign
1815 O14798 (TNFRSF10C) I T 229 rs9644063 Benign
1816 O14802 (POLR3A) P L 91 rs1375717376 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1817 O14802 (POLR3A) W C 310 rs1217230904 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1818 O14802 (POLR3A) D N 372 rs267608673 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1819 O14802 (POLR3A) A G 387 rs1307896663 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1820 O14802 (POLR3A) F L 558 rs267608668 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1821 O14802 (POLR3A) R L 582 rs34588967 Benign
1822 O14802 (POLR3A) S R 602 rs762708292 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1823 O14802 (POLR3A) S Y 636 rs267608676 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1824 O14802 (POLR3A) G E 672 rs267608670 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1825 O14802 (POLR3A) K N 713 rs35354908 Benign
1826 O14802 (POLR3A) C Y 724 rs267608679 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1827 O14802 (POLR3A) N I 775 rs267608672 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1828 O14802 (POLR3A) I T 804 - Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1829 O14802 (POLR3A) M V 852 rs267608671 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1830 O14802 (POLR3A) I N 897 rs267608681 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1831 O14802 (POLR3A) R C 1005 rs267608682 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1832 O14802 (POLR3A) E K 1261 rs371703979 Disease: Leukodystrop hy, hypomyelinat ing, 7, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD7) [MIM:607694]
1833 O14804 (TAAR5) T M 272 rs34746740 Benign
1834 O14804 (TAAR5) R C 330 rs35839363 Benign
1835 O14807 (MRAS) G V 23 - Disease: Noonan syndrome 11 (NS11) [MIM:618499]
1836 O14807 (MRAS) T I 68 - Disease: Noonan syndrome 11 (NS11) [MIM:618499]
1837 O14807 (MRAS) Q R 71 - Disease: Noonan syndrome 11 (NS11) [MIM:618499]
1838 O14813 (PHOX2A) A V 72 rs104894269 Disease: Fibrosis of extraocular muscles, congenital, 2 (CFEOM2) [MIM:602078]
1839 O14813 (PHOX2A) P Q 256 rs1041507260 Benign
1840 O14815 (CAPN9) A V 102 rs12562749 Benign
1841 O14815 (CAPN9) S R 122 rs28359608 Benign
1842 O14815 (CAPN9) D N 164 rs28359632 Benign
1843 O14815 (CAPN9) I T 234 rs28359644 Benign
1844 O14815 (CAPN9) A T 239 rs28359647 Benign
1845 O14815 (CAPN9) R W 277 rs28359655 Benign
1846 O14815 (CAPN9) K Q 322 rs1933631 Benign
1847 O14815 (CAPN9) H Q 327 rs28359684 Benign
1848 O14815 (CAPN9) E K 342 rs16852652 Benign
1849 O14815 (CAPN9) R W 458 rs28359688 Benign
1850 O14815 (CAPN9) R W 522 rs12731961 Benign
1851 O14815 (CAPN9) M I 611 rs16852683 Benign
1852 O14827 (RASGRF2) L W 713 rs16878472 Benign
1853 O14828 (SCAMP3) L R 38 rs760073 Benign
1854 O14828 (SCAMP3) V A 235 rs1318328 Benign
1855 O14828 (SCAMP3) I N 239 rs909106 Benign
1856 O14828 (SCAMP3) V D 242 rs909107 Benign
1857 O14829 (PPEF1) K T 367 rs1065074 Benign
1858 O14829 (PPEF1) G S 443 rs11796620 Benign
1859 O14830 (PPEF2) S R 120 - Benign
1860 O14830 (PPEF2) V L 394 rs34097437 Benign
1861 O14830 (PPEF2) E K 412 rs35599561 Benign
1862 O14830 (PPEF2) M L 481 rs6858658 Benign
1863 O14830 (PPEF2) R K 553 rs34155925 Benign
1864 O14830 (PPEF2) S C 575 rs17000961 Benign
1865 O14832 (PHYH) P S 29 rs28938169 Benign
1866 O14832 (PHYH) N Y 83 - Disease: Refsum disease (RD) [MIM:266500]
1867 O14832 (PHYH) P S 173 - Disease: Refsum disease (RD) [MIM:266500]
1868 O14832 (PHYH) H R 175 - Disease: Refsum disease (RD) [MIM:266500]
1869 O14832 (PHYH) Q K 176 rs28939672 Disease: Refsum disease (RD) [MIM:266500]
1870 O14832 (PHYH) D G 177 rs770262329 Disease: Refsum disease (RD) [MIM:266500]
1871 O14832 (PHYH) W R 193 - Disease: Refsum disease (RD) [MIM:266500]
1872 O14832 (PHYH) E Q 197 - Disease: Refsum disease (RD) [MIM:266500]
1873 O14832 (PHYH) I F 199 - Disease: Refsum disease (RD) [MIM:266500]
1874 O14832 (PHYH) G S 204 rs104894173 Disease: Refsum disease (RD) [MIM:266500]
1875 O14832 (PHYH) G S 215 rs7901902 Benign
1876 O14832 (PHYH) H Y 220 rs767216891 Disease: Refsum disease (RD) [MIM:266500]
1877 O14832 (PHYH) R Q 245 rs62619919 Benign
1878 O14832 (PHYH) F S 257 rs1211564430 Disease: Refsum disease (RD) [MIM:266500]
1879 O14832 (PHYH) N H 269 rs104894179 Disease: Refsum disease (RD) [MIM:266500]
1880 O14832 (PHYH) R Q 275 rs104894174 Disease: Refsum disease (RD) [MIM:266500]
1881 O14832 (PHYH) R W 275 rs104894178 Disease: Refsum disease (RD) [MIM:266500]
1882 O14836 (TNFRSF13B) C R 104 rs34557412 Disease: Immunoglobul in A deficiency 2 (IGAD2) [MIM:609529]
1883 O14836 (TNFRSF13B) A G 181 - Disease: Immunodefici ency, common variable, 2 (CVID2) [MIM:240500]
1884 O14836 (TNFRSF13B) R H 202 rs104894649 Disease: Immunodefici ency, common variable, 2 (CVID2) [MIM:240500]
1885 O14836 (TNFRSF13B) P L 251 rs34562254 Benign
1886 O14841 (OPLAH) S R 284 rs3935209 Benign
1887 O14842 (FFAR1) R H 211 rs2301151 Benign
1888 O14843 (FFAR3) Q R 44 rs382771 Benign
1889 O14843 (FFAR3) R C 45 rs1359000742 Benign
1890 O14843 (FFAR3) R W 174 rs1415955990 Benign
1891 O14843 (FFAR3) L V 227 rs1395869674 Benign
1892 O14843 (FFAR3) A V 256 rs1170582382 Benign
1893 O14843 (FFAR3) S N 346 rs201080710 Benign
1894 O14862 (AIM2) E K 32 rs2276405 Benign
1895 O14862 (AIM2) C Y 304 rs778047649 Benign
1896 O14867 (BACH1) S P 314 rs35474725 Benign
1897 O14874 (BCKDK) R G 174 - Disease: Branched- chain ketoacid dehydrogenas e kinase deficiency (BCKDKD) [MIM:614923]
1898 O14874 (BCKDK) R P 224 rs147210405 Disease: Branched- chain ketoacid dehydrogenas e kinase deficiency (BCKDKD) [MIM:614923]
1899 O14874 (BCKDK) L P 389 - Disease: Branched- chain ketoacid dehydrogenas e kinase deficiency (BCKDKD) [MIM:614923]
1900 O14880 (MGST3) G C 15 rs1802087 Benign
1901 O14880 (MGST3) P S 48 rs1802088 Benign
1902 O14896 (IRF6) A V 2 rs28942093 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1903 O14896 (IRF6) R C 6 rs28942094 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1904 O14896 (IRF6) A V 16 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1905 O14896 (IRF6) V A 18 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1906 O14896 (IRF6) V M 18 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1907 O14896 (IRF6) L P 22 rs387906967 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1908 O14896 (IRF6) P A 39 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1909 O14896 (IRF6) R Q 45 rs121434229 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1910 O14896 (IRF6) W G 60 - Disease: Popliteal pterygium syndrome (PPS) [MIM:119500]
1911 O14896 (IRF6) A G 61 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1912 O14896 (IRF6) T I 64 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1913 O14896 (IRF6) K T 66 - Disease: Popliteal pterygium syndrome (PPS) [MIM:119500]
1914 O14896 (IRF6) G R 70 rs776236749 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1915 O14896 (IRF6) P S 76 rs886039388 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1916 O14896 (IRF6) Q K 82 - Disease: Popliteal pterygium syndrome (PPS) [MIM:119500]
1917 O14896 (IRF6) R C 84 rs121434226 Disease: Popliteal pterygium syndrome (PPS) [MIM:119500]
1918 O14896 (IRF6) R G 84 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1919 O14896 (IRF6) R H 84 rs121434227 Disease: Popliteal pterygium syndrome (PPS) [MIM:119500]
1920 O14896 (IRF6) R L 84 rs121434227 Disease: Popliteal pterygium syndrome (PPS) [MIM:119500]
1921 O14896 (IRF6) N H 88 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1922 O14896 (IRF6) K E 89 - Disease: Popliteal pterygium syndrome (PPS) [MIM:119500]
1923 O14896 (IRF6) S G 90 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1924 O14896 (IRF6) D H 98 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1925 O14896 (IRF6) T A 100 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1926 O14896 (IRF6) R Q 250 rs1553247774 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1927 O14896 (IRF6) L P 251 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1928 O14896 (IRF6) Q R 273 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1929 O14896 (IRF6) V I 274 rs2235371 Benign
1930 O14896 (IRF6) L P 294 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1931 O14896 (IRF6) V I 297 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1932 O14896 (IRF6) K E 320 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1933 O14896 (IRF6) V M 321 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1934 O14896 (IRF6) G E 325 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1935 O14896 (IRF6) R I 339 rs121434231 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1936 O14896 (IRF6) L P 345 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1937 O14896 (IRF6) C F 347 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1938 O14896 (IRF6) E V 349 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1939 O14896 (IRF6) F S 369 rs1185412313 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1940 O14896 (IRF6) C W 374 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1941 O14896 (IRF6) K E 388 - Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1942 O14896 (IRF6) P S 396 rs121434230 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1943 O14896 (IRF6) R W 400 rs28942095 Disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]
1944 O14896 (IRF6) S L 424 rs387906968 Disease: Popliteal pterygium syndrome (PPS) [MIM:119500]
1945 O14896 (IRF6) D N 430 - Disease: Popliteal pterygium syndrome (PPS) [MIM:119500]
1946 O14901 (KLF11) Q R 62 rs35927125 Benign
1947 O14901 (KLF11) T M 220 rs34336420 Disease: Maturity- onset diabetes of the young 7 (MODY7) [MIM:610508]
1948 O14901 (KLF11) A S 347 rs121912645 Disease: Maturity- onset diabetes of the young 7 (MODY7) [MIM:610508]
1949 O14901 (KLF11) S F 378 rs35476458 Benign
1950 O14904 (WNT9A) A T 260 rs8192633 Benign
1951 O14905 (WNT9B) M T 106 rs4968281 Benign
1952 O14920 (IKBKB) V I 203 - Disease: Immunodefici ency 15A (IMD15A) [MIM:618204]
1953 O14920 (IKBKB) Q R 369 rs56411242 Benign
1954 O14920 (IKBKB) R Q 526 rs2272736 Benign
1955 O14920 (IKBKB) R W 554 rs17875749 Benign
1956 O14920 (IKBKB) A T 710 rs34309584 Benign
1957 O14920 (IKBKB) F L 734 rs56301637 Benign
1958 O14920 (IKBKB) A T 736 rs17611716 Benign
1959 O14921 (RGS13) L F 150 rs16834603 Benign
1960 O14924 (RGS12) I V 225 rs7679941 Benign
1961 O14924 (RGS12) M L 277 rs16844152 Benign
1962 O14924 (RGS12) N S 1124 rs2269497 Benign
1963 O14931 (NCR3) A T 103 rs11575840 Benign
1964 O14931 (NCR3) R S 174 rs3179003 Benign
1965 O14936 (CASK) R L 28 rs137852816 Disease: FG syndrome 4 (FGS4) [MIM:300422]
1966 O14936 (CASK) Y H 268 rs137852817 Disease: Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]
1967 O14936 (CASK) P S 396 rs137852820 Disease: Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]
1968 O14936 (CASK) D G 710 rs137852818 Disease: Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]
1969 O14939 (PLD2) R C 172 rs2286672 Benign
1970 O14939 (PLD2) T I 577 rs1052748 Benign
1971 O14939 (PLD2) E G 632 rs17854914 Benign
1972 O14939 (PLD2) A T 804 rs11545163 Benign
1973 O14939 (PLD2) G R 821 rs3764897 Benign
1974 O14939 (PLD2) G S 821 rs3764897 Benign
1975 O14944 (EREG) R Q 147 rs35275884 Benign
1976 O14948 (TFEC) Q H 6 rs35695387 Benign
1977 O14948 (TFEC) G S 100 rs35170691 Benign
1978 O14949 (UQCRQ) S F 45 rs11544803 Disease: Mitochondria l complex III deficiency, nuclear 4 (MC3DN4) [MIM:615159]
1979 O14950 (MYL12B) E G 141 rs14720 Benign
1980 O14958 (CASQ2) R Q 33 rs749547712 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 2 (CPVT2) [MIM:611938]
1981 O14958 (CASQ2) T A 66 rs4074536 Benign
1982 O14958 (CASQ2) V M 76 rs10801999 Benign
1983 O14958 (CASQ2) L H 167 rs121434550 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 2 (CPVT2) [MIM:611938]
1984 O14958 (CASQ2) K R 180 rs886039816 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 2 (CPVT2) [MIM:611938]
1985 O14958 (CASQ2) H R 244 rs28730716 Benign
1986 O14958 (CASQ2) D H 307 rs121434549 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 2 (CPVT2) [MIM:611938]
1987 O14958 (CASQ2) N K 335 rs28730712 Benign
1988 O14960 (LECT2) I V 58 rs31517 Benign
1989 O14964 (HGS) T S 7 rs753682847 Benign
1990 O14964 (HGS) E D 400 rs34868130 Benign
1991 O14964 (HGS) A S 733 rs56058441 Benign
1992 O14965 (AURKA) G R 11 rs6069717 Benign
1993 O14965 (AURKA) F I 31 rs2273535 Benign
1994 O14965 (AURKA) P L 50 rs34572020 Benign
1995 O14965 (AURKA) V I 57 rs1047972 Benign
1996 O14965 (AURKA) S L 104 rs2230743 Benign
1997 O14965 (AURKA) M V 373 rs33923703 Benign
1998 O14967 (CLGN) A S 160 rs2567241 Benign
1999 O14967 (CLGN) V I 290 rs2175563 Benign
2000 O14967 (CLGN) R W 352 rs12513290 Benign
2001 O14974 (PPP1R12A) C W 116 rs12582646 Benign
2002 O14974 (PPP1R12A) T P 305 rs2596781 Benign
2003 O14974 (PPP1R12A) K N 734 rs12820960 Benign
2004 O14975 (SLC27A2) K Q 48 rs1648348 Benign
2005 O14976 (GAK) S L 144 rs768962219 Benign
2006 O14976 (GAK) V M 580 rs34255232 Benign
2007 O14976 (GAK) D Y 787 rs34585705 Benign
2008 O14976 (GAK) Q R 877 rs149842313 Benign
2009 O14976 (GAK) T M 1051 rs35227944 Benign
2010 O14976 (GAK) Q H 1120 rs55801437 Benign
2011 O14976 (GAK) P L 1137 rs56169884 Benign
2012 O14976 (GAK) S N 1168 rs56326341 Benign
2013 O14976 (GAK) K R 1265 rs2306242 Benign
2014 O14976 (GAK) D N 1297 rs1134921 Benign
2015 O14978 (ZNF263) C S 310 rs220379 Benign
2016 O14978 (ZNF263) V I 534 rs34236132 Benign
2017 O14978 (ZNF263) R Q 646 rs57710602 Benign
2018 O14979 (HNRNPDL) D H 378 rs587777669 Disease: Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) [MIM:609115]
2019 O14979 (HNRNPDL) D N 378 rs587777669 Disease: Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) [MIM:609115]
2020 O14983 (ATP2A1) P L 789 rs121918115 Disease: Brody myopathy (BRM) [MIM:601003]
2021 O14986 (PIP5K1B) A T 415 rs55897616 Benign
2022 O14994 (SYN3) S N 470 rs5998526 Benign
2023 O15013 (ARHGEF10) T I 357 rs28940281 Disease: Slowed nerve conduction velocity (SNCV) [MIM:608236]
2024 O15013 (ARHGEF10) V I 700 rs2294039 Benign
2025 O15013 (ARHGEF10) V I 725 rs2294039 Benign
2026 O15015 (ZNF646) A V 98 rs28407985 Benign
2027 O15015 (ZNF646) E G 327 rs749670 Benign
2028 O15015 (ZNF646) I M 774 rs17641067 Benign
2029 O15015 (ZNF646) G A 921 rs35713203 Benign
2030 O15015 (ZNF646) R W 1249 rs35376811 Benign
2031 O15015 (ZNF646) R Q 1318 rs3751856 Benign
2032 O15015 (ZNF646) G D 1477 rs7196726 Benign
2033 O15015 (ZNF646) T M 1788 rs34259949 Benign
2034 O15018 (PDZD2) E G 1178 rs57158698 Benign
2035 O15018 (PDZD2) Q K 1258 rs3101878 Benign
2036 O15018 (PDZD2) T A 1274 rs157496 Benign
2037 O15018 (PDZD2) D E 1343 rs12520467 Benign
2038 O15018 (PDZD2) T M 1425 rs36097367 Benign
2039 O15018 (PDZD2) A V 1649 rs3101873 Benign
2040 O15018 (PDZD2) R Q 2247 rs10066063 Benign
2041 O15020 (SPTBN2) L P 253 rs121918306 Disease: Spinocerebel lar ataxia 5 (SCA5) [MIM:600224]
2042 O15020 (SPTBN2) R W 480 rs397514749 Disease: Spinocerebel lar ataxia 5 (SCA5) [MIM:600224]
2043 O15020 (SPTBN2) S G 825 rs4930388 Benign
2044 O15020 (SPTBN2) E K 835 rs36054877 Benign
2045 O15020 (SPTBN2) V A 1034 rs506028 Benign
2046 O15021 (MAST4) A P 77 rs6867856 Benign
2047 O15021 (MAST4) Q R 920 - Benign
2048 O15021 (MAST4) R W 1954 - Benign
2049 O15021 (MAST4) P L 2198 rs752429440 Benign
2050 O15021 (MAST4) S C 2290 - Benign
2051 O15027 (SEC16A) R C 1039 rs3812594 Benign
2052 O15031 (PLXNB2) K E 318 rs28379706 Benign
2053 O15031 (PLXNB2) I V 823 rs11547731 Benign
2054 O15033 (AREL1) P L 779 rs371610162 Benign
2055 O15034 (RIMBP2) P R 593 rs2292664 Benign
2056 O15034 (RIMBP2) D N 888 rs11060869 Benign
2057 O15037 (KHNYN) K T 261 rs3742520 Benign
2058 O15037 (KHNYN) W L 270 rs7151995 Benign
2059 O15040 (TECPR2) V I 320 rs1309353 Benign
2060 O15040 (TECPR2) A T 386 rs11845676 Benign
2061 O15040 (TECPR2) P S 439 rs2273906 Benign
2062 O15040 (TECPR2) I V 683 rs10149146 Benign
2063 O15041 (SEMA3E) R P 208 rs61729612 Benign
2064 O15041 (SEMA3E) R C 619 rs143631464 Benign
2065 O15041 (SEMA3E) I V 717 rs61729610 Benign
2066 O15047 (SETD1A) D N 639 rs897985 Benign
2067 O15050 (TRANK1) P L 153 rs17201603 Benign
2068 O15050 (TRANK1) P L 703 rs17201603 Benign
2069 O15050 (TRANK1) E G 1090 rs11712950 Benign
2070 O15054 (KDM6B) P A 203 rs60738318 Benign
2071 O15054 (KDM6B) S L 308 rs2270516 Benign
2072 O15054 (KDM6B) N S 1331 - Disease: Neurodevelop mental disorder with coarse facies and mild distal skeletal abnormalitie s (NEDCFSA) [MIM:618505]
2073 O15054 (KDM6B) Y S 1379 - Disease: Neurodevelop mental disorder with coarse facies and mild distal skeletal abnormalitie s (NEDCFSA) [MIM:618505]
2074 O15055 (PER2) A S 5 rs35572922 Benign
2075 O15055 (PER2) S G 662 rs121908635 Disease: Advanced sleep phase syndrome, familial, 1 (FASPS1) [MIM:604348]
2076 O15055 (PER2) V I 729 rs4429421 Benign
2077 O15055 (PER2) V I 903 rs35333999 Benign
2078 O15055 (PER2) F Y 949 rs35998480 Benign
2079 O15055 (PER2) G E 1244 rs934945 Benign
2080 O15056 (SYNJ2) E G 1468 rs2502601 Benign
2081 O15060 (ZBTB39) P A 689 rs3741576 Benign
2082 O15061 (SYNM) A V 272 - Benign
2083 O15061 (SYNM) V I 330 rs5030691 Benign
2084 O15061 (SYNM) R W 338 - Benign
2085 O15061 (SYNM) R W 355 rs3743242 Benign
2086 O15061 (SYNM) G S 462 rs3134595 Benign
2087 O15061 (SYNM) P L 567 rs3743244 Benign
2088 O15061 (SYNM) E A 612 rs5030692 Benign
2089 O15061 (SYNM) P L 761 rs3743247 Benign
2090 O15061 (SYNM) R W 946 rs5030694 Benign
2091 O15061 (SYNM) Q R 976 rs5030695 Benign
2092 O15061 (SYNM) P L 1059 rs5030697 Benign
2093 O15061 (SYNM) R P 1067 rs5030698 Benign
2094 O15061 (SYNM) S L 1077 rs5030699 Benign
2095 O15061 (SYNM) G S 1130 rs9920074 Benign
2096 O15061 (SYNM) G A 1345 rs7167599 Benign
2097 O15061 (SYNM) G E 1386 rs2292288 Benign
2098 O15061 (SYNM) F C 1462 rs2292287 Benign
2099 O15062 (ZBTB5) D G 300 rs17502738 Benign
2100 O15067 (PFAS) P S 19 rs9891699 Benign
2101 O15067 (PFAS) P L 367 rs4791641 Benign
2102 O15067 (PFAS) F Y 481 rs35217368 Benign
2103 O15067 (PFAS) L P 621 rs11078738 Benign
2104 O15069 (NACAD) D E 438 rs3735495 Benign
2105 O15069 (NACAD) V A 498 rs3735494 Benign
2106 O15069 (NACAD) K E 591 rs7777835 Benign
2107 O15069 (NACAD) D E 1105 rs10243185 Benign
2108 O15069 (NACAD) C F 1152 rs3735493 Benign
2109 O15072 (ADAMTS3) R K 138 rs788908 Benign
2110 O15072 (ADAMTS3) L P 168 rs1177851177 Disease: Hennekam lymphangiect asia- lymphedema syndrome 3 (HKLLS3) [MIM:618154]
2111 O15072 (ADAMTS3) I T 291 rs61757480 Disease: Hennekam lymphangiect asia- lymphedema syndrome 3 (HKLLS3) [MIM:618154]
2112 O15072 (ADAMTS3) S P 1074 rs35864003 Benign
2113 O15075 (DCLK1) R H 292 rs56185003 Benign
2114 O15078 (CEP290) W C 7 rs62635288 Disease: Senior-Loken syndrome 6 (SLSN6) [MIM:610189]
2115 O15078 (CEP290) E Q 277 rs45502896 Benign
2116 O15078 (CEP290) E K 534 rs895126773 Disease: Joubert syndrome 5 (JBTS5) [MIM:610188]
2117 O15078 (CEP290) D G 664 rs79705698 Benign
2118 O15078 (CEP290) K E 838 rs11104738 Benign
2119 O15078 (CEP290) L W 906 rs7970228 Benign
2120 O15078 (CEP290) R H 1237 rs7307793 Benign
2121 O15078 (CEP290) A P 1566 - Benign
2122 O15078 (CEP290) L P 1694 - Benign
2123 O15078 (CEP290) I V 1836 rs11104729 Benign
2124 O15078 (CEP290) I T 2134 rs117852025 Benign
2125 O15078 (CEP290) R C 2210 rs374852145 Benign
2126 O15078 (CEP290) N K 2228 rs373711746 Benign
2127 O15083 (ERC2) N S 542 rs12488237 Benign
2128 O15085 (ARHGEF11) S G 1416 rs868188 Benign
2129 O15085 (ARHGEF11) H R 1427 rs945508 Benign
2130 O15091 (PRORP) N S 437 rs11156878 Benign
2131 O15111 (CHUK) S C 126 rs34427437 Benign
2132 O15111 (CHUK) V A 155 rs2230803 Benign
2133 O15111 (CHUK) V I 268 rs2230804 Benign
2134 O15117 (FYB1) P L 51 rs1642515 Benign
2135 O15117 (FYB1) K R 332 rs3749741 Benign
2136 O15117 (FYB1) V F 672 rs379707 Benign
2137 O15118 (NPC1) C R 63 rs747049347 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2138 O15118 (NPC1) C Y 74 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2139 O15118 (NPC1) Q R 92 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2140 O15118 (NPC1) C R 113 rs120074136 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2141 O15118 (NPC1) T M 137 rs372947142 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2142 O15118 (NPC1) S G 151 rs17855819 Benign
2143 O15118 (NPC1) P S 166 rs866966704 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2144 O15118 (NPC1) C G 177 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2145 O15118 (NPC1) C Y 177 rs80358252 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2146 O15118 (NPC1) H R 215 rs1805081 Benign
2147 O15118 (NPC1) N S 222 rs55680026 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2148 O15118 (NPC1) V G 231 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2149 O15118 (NPC1) P S 237 rs80358251 Benign
2150 O15118 (NPC1) D H 242 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2151 O15118 (NPC1) D N 242 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2152 O15118 (NPC1) C Y 247 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2153 O15118 (NPC1) G V 248 rs1230538609 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2154 O15118 (NPC1) M R 272 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2155 O15118 (NPC1) G D 333 - Benign
2156 O15118 (NPC1) R W 372 rs1346436537 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2157 O15118 (NPC1) V A 378 rs120074134 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2158 O15118 (NPC1) L F 380 rs1435915496 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2159 O15118 (NPC1) W C 381 - Benign
2160 O15118 (NPC1) A P 388 rs1555637157 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2161 O15118 (NPC1) R C 389 rs1053321823 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2162 O15118 (NPC1) P T 401 rs766301620 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2163 O15118 (NPC1) R P 404 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2164 O15118 (NPC1) R Q 404 rs139751448 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2165 O15118 (NPC1) R W 404 rs1298238512 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2166 O15118 (NPC1) P L 433 rs1064793791 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2167 O15118 (NPC1) P S 434 rs61731962 Benign
2168 O15118 (NPC1) P L 434 rs774333145 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2169 O15118 (NPC1) E K 451 rs781065429 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2170 O15118 (NPC1) L P 472 - Benign
2171 O15118 (NPC1) S P 473 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2172 O15118 (NPC1) P L 474 rs372445155 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2173 O15118 (NPC1) C Y 479 rs1555636659 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2174 O15118 (NPC1) Y S 509 rs1190383931 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2175 O15118 (NPC1) H P 510 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2176 O15118 (NPC1) T M 511 rs13381670 Benign
2177 O15118 (NPC1) H R 512 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2178 O15118 (NPC1) R Q 518 rs483352886 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2179 O15118 (NPC1) R W 518 rs377515417 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2180 O15118 (NPC1) A S 521 rs138184115 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2181 O15118 (NPC1) F L 537 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2182 O15118 (NPC1) P L 543 rs369368181 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2183 O15118 (NPC1) T K 574 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2184 O15118 (NPC1) K R 576 rs761660695 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2185 O15118 (NPC1) A V 605 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2186 O15118 (NPC1) E D 612 rs1555634739 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2187 O15118 (NPC1) R C 615 rs745777805 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2188 O15118 (NPC1) R L 615 rs773351341 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2189 O15118 (NPC1) M R 631 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2190 O15118 (NPC1) G R 640 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2191 O15118 (NPC1) M I 642 rs1788799 Benign
2192 O15118 (NPC1) S W 652 rs765652543 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2193 O15118 (NPC1) G S 660 rs1555634490 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2194 O15118 (NPC1) V M 664 rs376213990 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2195 O15118 (NPC1) S N 666 rs750480579 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2196 O15118 (NPC1) C W 670 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2197 O15118 (NPC1) G V 673 rs1555634452 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2198 O15118 (NPC1) L F 684 rs1057518942 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2199 O15118 (NPC1) P L 691 rs1555634422 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2200 O15118 (NPC1) L V 695 rs370323921 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2201 O15118 (NPC1) D N 700 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2202 O15118 (NPC1) F S 703 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2203 O15118 (NPC1) L P 724 rs1393388896 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2204 O15118 (NPC1) V F 727 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2205 O15118 (NPC1) S I 734 rs757475924 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2206 O15118 (NPC1) E K 742 rs1555634202 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2207 O15118 (NPC1) A E 745 rs752386083 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2208 O15118 (NPC1) M K 754 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2209 O15118 (NPC1) V A 757 - Benign
2210 O15118 (NPC1) F L 763 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2211 O15118 (NPC1) A V 767 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2212 O15118 (NPC1) Q P 775 rs80358253 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2213 O15118 (NPC1) R C 789 rs1555633697 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2214 O15118 (NPC1) R G 789 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2215 O15118 (NPC1) Y C 825 rs550562774 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2216 O15118 (NPC1) S I 849 rs1057519242 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2217 O15118 (NPC1) I V 858 rs1805082 Benign
2218 O15118 (NPC1) Q L 862 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2219 O15118 (NPC1) S L 865 rs1160114136 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2220 O15118 (NPC1) Y C 871 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2221 O15118 (NPC1) V A 873 - Benign
2222 O15118 (NPC1) D V 874 rs372030650 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2223 O15118 (NPC1) P S 888 rs1191346899 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2224 O15118 (NPC1) V M 889 rs120074130 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2225 O15118 (NPC1) Y C 890 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2226 O15118 (NPC1) Y D 899 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2227 O15118 (NPC1) G S 910 rs768999208 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2228 O15118 (NPC1) D Y 917 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2229 O15118 (NPC1) A T 926 rs564631426 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2230 O15118 (NPC1) A V 927 rs753768576 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2231 O15118 (NPC1) Q P 928 rs28940897 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2232 O15118 (NPC1) L P 929 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2233 O15118 (NPC1) R Q 934 rs786204714 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2234 O15118 (NPC1) S L 940 rs143124972 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2235 O15118 (NPC1) W C 942 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2236 O15118 (NPC1) I M 943 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2237 O15118 (NPC1) D N 944 rs748837410 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2238 O15118 (NPC1) D N 945 rs1428599096 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2239 O15118 (NPC1) D H 948 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2240 O15118 (NPC1) D N 948 rs1261939149 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2241 O15118 (NPC1) D Y 948 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2242 O15118 (NPC1) V M 950 rs120074135 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2243 O15118 (NPC1) S L 954 rs543206298 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2244 O15118 (NPC1) C Y 956 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2245 O15118 (NPC1) R L 958 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2246 O15118 (NPC1) R Q 958 rs120074132 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2247 O15118 (NPC1) V E 959 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2248 O15118 (NPC1) N S 961 rs34084984 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2249 O15118 (NPC1) N S 968 rs773767253 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2250 O15118 (NPC1) V G 971 - Benign
2251 O15118 (NPC1) C R 976 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2252 O15118 (NPC1) R C 978 rs28942108 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2253 O15118 (NPC1) G S 986 rs1364834942 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2254 O15118 (NPC1) G A 992 rs757534240 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2255 O15118 (NPC1) G R 992 rs80358254 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2256 O15118 (NPC1) G W 992 rs80358254 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2257 O15118 (NPC1) M R 996 rs1555632958 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2258 O15118 (NPC1) S L 1004 rs150334966 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2259 O15118 (NPC1) P A 1007 rs80358257 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2260 O15118 (NPC1) G D 1012 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2261 O15118 (NPC1) G V 1015 rs761773567 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2262 O15118 (NPC1) H R 1016 rs140211089 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2263 O15118 (NPC1) V G 1023 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2264 O15118 (NPC1) G R 1034 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2265 O15118 (NPC1) A V 1035 rs28942107 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2266 O15118 (NPC1) T K 1036 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2267 O15118 (NPC1) T M 1036 rs28942104 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2268 O15118 (NPC1) A V 1049 - Benign
2269 O15118 (NPC1) A T 1054 rs80358258 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2270 O15118 (NPC1) R Q 1059 rs771000314 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2271 O15118 (NPC1) I T 1061 rs80358259 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2272 O15118 (NPC1) A V 1062 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2273 O15118 (NPC1) T N 1066 rs772622214 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2274 O15118 (NPC1) F L 1087 rs746715353 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2275 O15118 (NPC1) Y C 1088 rs28942106 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2276 O15118 (NPC1) E K 1089 rs374526072 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2277 O15118 (NPC1) I T 1094 rs1338658857 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2278 O15118 (NPC1) D N 1097 rs758829443 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2279 O15118 (NPC1) N I 1137 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2280 O15118 (NPC1) G V 1140 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2281 O15118 (NPC1) M T 1142 rs778878523 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2282 O15118 (NPC1) N K 1150 rs34715591 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2283 O15118 (NPC1) N I 1156 rs28942105 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2284 O15118 (NPC1) N S 1156 rs28942105 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2285 O15118 (NPC1) V M 1165 rs748862167 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2286 O15118 (NPC1) F L 1167 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2287 O15118 (NPC1) C Y 1168 rs1555631998 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2288 O15118 (NPC1) A V 1174 rs780175800 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2289 O15118 (NPC1) R H 1186 rs200444084 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2290 O15118 (NPC1) E G 1189 rs369098773 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2291 O15118 (NPC1) T K 1205 rs758902805 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2292 O15118 (NPC1) T R 1205 rs758902805 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2293 O15118 (NPC1) V L 1212 rs753419933 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2294 O15118 (NPC1) L F 1213 rs120074131 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2295 O15118 (NPC1) L V 1213 rs766178353 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2296 O15118 (NPC1) A V 1216 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2297 O15118 (NPC1) I T 1220 - Benign
2298 O15118 (NPC1) F L 1224 - Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2299 O15118 (NPC1) G E 1236 rs761653115 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2300 O15118 (NPC1) G R 1240 rs745892286 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2301 O15118 (NPC1) S G 1249 rs1415921261 Disease: Niemann-Pick disease C1 (NPC1) [MIM:257220]
2302 O15118 (NPC1) R Q 1266 rs1805084 Benign
2303 O15119 (TBX3) L P 143 - Disease: Ulnar- mammary syndrome (UMS) [MIM:181450]
2304 O15119 (TBX3) Y S 149 - Disease: Ulnar- mammary syndrome (UMS) [MIM:181450]
2305 O15120 (AGPAT2) G R 136 rs797045222 Disease: Congenital generalized lipodystroph y 1 (CGL1) [MIM:608594]
2306 O15120 (AGPAT2) L P 228 rs104894100 Disease: Congenital generalized lipodystroph y 1 (CGL1) [MIM:608594]
2307 O15120 (AGPAT2) A V 239 rs145975461 Disease: Congenital generalized lipodystroph y 1 (CGL1) [MIM:608594]
2308 O15121 (DEGS1) N D 113 - Disease: Leukodystrop hy, hypomyelinat ing, 18 (HLD18) [MIM:618404]
2309 O15121 (DEGS1) R W 133 - Disease: Leukodystrop hy, hypomyelinat ing, 18 (HLD18) [MIM:618404]
2310 O15121 (DEGS1) N S 255 - Disease: Leukodystrop hy, hypomyelinat ing, 18 (HLD18) [MIM:618404]
2311 O15121 (DEGS1) A V 280 - Disease: Leukodystrop hy, hypomyelinat ing, 18 (HLD18) [MIM:618404]
2312 O15123 (ANGPT2) V I 333 rs7813215 Benign
2313 O15130 (NPFF) W R 88 rs35822762 Benign
2314 O15143 (ARPC1B) K N 37 rs1045012 Benign
2315 O15146 (MUSK) A G 27 rs56054734 Benign
2316 O15146 (MUSK) D E 38 rs775587809 Disease: Myasthenic syndrome, congenital, 9, associated with acetylcholin e receptor deficiency (CMS9) [MIM:616325]
2317 O15146 (MUSK) T M 100 rs35142681 Benign
2318 O15146 (MUSK) G E 107 rs55786136 Benign
2319 O15146 (MUSK) S G 159 rs35176182 Benign
2320 O15146 (MUSK) N S 222 rs55826142 Benign
2321 O15146 (MUSK) P R 344 rs387906803 Disease: Myasthenic syndrome, congenital, 9, associated with acetylcholin e receptor deficiency (CMS9) [MIM:616325]
2322 O15146 (MUSK) M I 413 rs2274419 Benign
2323 O15146 (MUSK) I T 575 rs751889864 Disease: Fetal akinesia deformation sequence 1 (FADS1) [MIM:208150]
2324 O15146 (MUSK) M I 605 rs766640370 Disease: Myasthenic syndrome, congenital, 9, associated with acetylcholin e receptor deficiency (CMS9) [MIM:616325]
2325 O15146 (MUSK) L F 629 rs34267283 Benign
2326 O15146 (MUSK) V A 644 rs41279055 Benign
2327 O15146 (MUSK) N S 664 rs55963442 Benign
2328 O15146 (MUSK) P L 696 rs56126328 Benign
2329 O15146 (MUSK) A V 727 rs397515450 Disease: Myasthenic syndrome, congenital, 9, associated with acetylcholin e receptor deficiency (CMS9) [MIM:616325]
2330 O15146 (MUSK) E D 782 rs34614566 Benign
2331 O15146 (MUSK) V M 790 rs199476083 Disease: Myasthenic syndrome, congenital, 9, associated with acetylcholin e receptor deficiency (CMS9) [MIM:616325]
2332 O15146 (MUSK) V L 829 rs578430 Benign
2333 O15146 (MUSK) M V 835 - Disease: Myasthenic syndrome, congenital, 9, associated with acetylcholin e receptor deficiency (CMS9) [MIM:616325]
2334 O15146 (MUSK) R H 858 rs34115159 Benign
2335 O15151 (MDM4) I T 175 rs4252716 Benign
2336 O15151 (MDM4) T I 406 rs4252741 Benign
2337 O15160 (POLR1C) T I 26 rs796052126 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2338 O15160 (POLR1C) N I 32 rs796052124 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2339 O15160 (POLR1C) M V 65 rs141471029 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2340 O15160 (POLR1C) N S 74 rs371802902 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2341 O15160 (POLR1C) V A 94 rs1305006253 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2342 O15160 (POLR1C) R H 109 rs796052127 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2343 O15160 (POLR1C) G D 132 rs201320592 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2344 O15160 (POLR1C) C R 146 rs796052125 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2345 O15160 (POLR1C) R Q 191 rs373046018 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2346 O15160 (POLR1C) I T 262 rs751006626 Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2347 O15160 (POLR1C) R Q 279 rs191582628 Disease: Treacher Collins syndrome 3 (TCS3) [MIM:248390]
2348 O15160 (POLR1C) R W 279 rs141156009 Disease: Treacher Collins syndrome 3 (TCS3) [MIM:248390]
2349 O15160 (POLR1C) E K 324 - Disease: Leukodystrop hy, hypomyelinat ing, 11 (HLD11) [MIM:616494]
2350 O15162 (PLSCR1) H Y 262 rs343320 Benign
2351 O15164 (TRIM24) S N 762 - Benign
2352 O15164 (TRIM24) N S 796 rs35356723 Benign
2353 O15164 (TRIM24) R S 1009 rs34585297 Benign
2354 O15169 (AXIN1) L R 106 - Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
2355 O15169 (AXIN1) P L 345 rs779951904 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
2356 O15169 (AXIN1) G S 425 rs116350678 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
2357 O15169 (AXIN1) G S 650 rs117208012 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
2358 O15169 (AXIN1) R Q 841 rs34015754 Benign
2359 O15178 (TBXT) H R 171 rs587777303 Disease: Sacral agenesis with vertebral anomalies (SAVA) [MIM:615709]
2360 O15178 (TBXT) G D 177 rs2305089 Benign
2361 O15178 (TBXT) G S 356 rs3127328 Benign
2362 O15178 (TBXT) V I 358 rs77703807 Benign
2363 O15178 (TBXT) V M 367 rs35292451 Benign
2364 O15178 (TBXT) N S 369 rs3816300 Benign
2365 O15178 (TBXT) E K 402 rs34517945 Benign
2366 O15182 (CETN3) V L 10 rs4873 Benign
2367 O15194 (CTDSPL) S P 121 - Benign
2368 O15194 (CTDSPL) N S 127 rs1341429725 Benign
2369 O15194 (CTDSPL) V G 132 - Benign
2370 O15195 (VILL) F L 610 rs1892814 Benign
2371 O15195 (VILL) L F 740 rs9816693 Benign
2372 O15195 (VILL) R Q 798 rs147292695 Benign
2373 O15197 (EPHB6) G S 122 rs8177173 Benign
2374 O15197 (EPHB6) S T 170 - Benign
2375 O15197 (EPHB6) A V 221 - Benign
2376 O15197 (EPHB6) P H 282 - Benign
2377 O15197 (EPHB6) P R 282 rs8177143 Benign
2378 O15197 (EPHB6) R Q 309 rs55728646 Benign
2379 O15197 (EPHB6) S A 324 rs8177146 Benign
2380 O15197 (EPHB6) S L 332 rs35189999 Benign
2381 O15197 (EPHB6) R Q 499 rs8177175 Benign
2382 O15197 (EPHB6) A V 662 rs35984674 Benign
2383 O15197 (EPHB6) R H 813 - Benign
2384 O15197 (EPHB6) I V 993 - Benign
2385 O15198 (SMAD9) K E 43 rs397514715 Disease: Pulmonary hypertension , primary, 2 (PPH2) [MIM:615342]
2386 O15204 (ADAMDEC1) M T 121 rs7007084 Benign
2387 O15204 (ADAMDEC1) N S 444 rs3765124 Benign
2388 O15205 (UBD) L S 51 rs2076484 Benign
2389 O15205 (UBD) I T 68 rs2076485 Benign
2390 O15205 (UBD) S P 95 rs2076486 Benign
2391 O15205 (UBD) A G 99 rs2076487 Benign
2392 O15205 (UBD) E K 120 rs17184290 Benign
2393 O15205 (UBD) C S 160 rs8337 Benign
2394 O15205 (UBD) C F 162 rs7757931 Benign
2395 O15209 (ZBTB22) G A 250 rs35663442 Benign
2396 O15209 (ZBTB22) T A 310 rs3130100 Benign
2397 O15211 (RGL2) P L 598 rs34022110 Benign
2398 O15211 (RGL2) G E 705 rs35273540 Benign
2399 O15213 (WDR46) T A 94 rs3130257 Benign
2400 O15213 (WDR46) S Y 124 rs34704405 Benign
2401 O15213 (WDR46) V A 341 rs14398 Benign
2402 O15217 (GSTA4) L P 100 rs45551133 Benign
2403 O15217 (GSTA4) T A 163 rs4147617 Benign
2404 O15218 (GPR182) C R 349 rs35493121 Benign
2405 O15228 (GNPAT) R C 211 rs121434440 Disease: Rhizomelic chondrodyspl asia punctata 2 (RCDP2) [MIM:222765]
2406 O15228 (GNPAT) R H 211 rs121434439 Disease: Rhizomelic chondrodyspl asia punctata 2 (RCDP2) [MIM:222765]
2407 O15228 (GNPAT) V I 495 rs11122266 Benign
2408 O15228 (GNPAT) D G 519 rs11558492 Disease: Rhizomelic chondrodyspl asia punctata 2 (RCDP2) [MIM:222765]
2409 O15228 (GNPAT) Y H 586 rs17849315 Benign
2410 O15229 (KMO) R C 452 rs1053230 Benign
2411 O15230 (LAMA5) T A 401 rs4925229 Benign
2412 O15230 (LAMA5) V M 889 rs6062223 Benign
2413 O15230 (LAMA5) M T 1258 rs3810548 Benign
2414 O15230 (LAMA5) K E 1367 rs2427286 Benign
2415 O15230 (LAMA5) G A 1434 rs17750870 Benign
2416 O15230 (LAMA5) R W 1667 rs13039398 Benign
2417 O15230 (LAMA5) T M 1671 rs944893 Benign
2418 O15230 (LAMA5) H Y 1717 rs875379 Benign
2419 O15230 (LAMA5) F S 1807 rs2427284 Benign
2420 O15230 (LAMA5) V M 1900 rs2427283 Benign
2421 O15230 (LAMA5) A T 1908 rs11698080 Benign
2422 O15230 (LAMA5) H R 2036 rs6143021 Benign
2423 O15230 (LAMA5) R H 2053 rs3737137 Benign
2424 O15230 (LAMA5) D N 2062 rs2274934 Benign
2425 O15230 (LAMA5) R H 2226 rs2297587 Benign
2426 O15230 (LAMA5) R W 3079 rs944895 Benign
2427 O15232 (MATN3) P S 11 rs963330242 Benign
2428 O15232 (MATN3) R H 70 rs104893640 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2429 O15232 (MATN3) F S 105 - Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2430 O15232 (MATN3) T M 120 rs397515546 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2431 O15232 (MATN3) R W 121 rs104893637 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2432 O15232 (MATN3) A P 128 rs104893641 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2433 O15232 (MATN3) E K 134 - Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2434 O15232 (MATN3) A D 173 rs779413744 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2435 O15232 (MATN3) I N 192 - Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2436 O15232 (MATN3) V D 194 rs104893645 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2437 O15232 (MATN3) T K 195 - Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2438 O15232 (MATN3) R P 209 rs749845872 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2439 O15232 (MATN3) Y N 218 - Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2440 O15232 (MATN3) A D 219 rs28939677 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2441 O15232 (MATN3) K N 231 rs773642745 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2442 O15232 (MATN3) V M 245 rs182164052 Disease: Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
2443 O15232 (MATN3) E K 252 rs52826764 Benign
2444 O15232 (MATN3) T M 303 rs77245812 Benign
2445 O15232 (MATN3) C S 304 rs104893639 Disease: Spondyloepim etaphyseal dysplasia, MATN3-relate d (SEMD-MATN3) [MIM:608728]
2446 O15235 (MRPS12) H R 8 rs33988199 Benign
2447 O15239 (NDUFA1) G R 8 rs104894884 Disease: Mitochondria l complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020]
2448 O15239 (NDUFA1) G R 32 rs1801316 Benign
2449 O15239 (NDUFA1) R S 37 rs104894885 Disease: Mitochondria l complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020]
2450 O15244 (SLC22A2) P S 54 rs8177504 Benign
2451 O15244 (SLC22A2) M I 165 rs8177507 Benign
2452 O15244 (SLC22A2) T M 201 rs145450955 Benign
2453 O15244 (SLC22A2) S A 270 rs316019 Benign
2454 O15244 (SLC22A2) A G 297 rs8177513 Benign
2455 O15244 (SLC22A2) R C 400 rs8177516 Benign
2456 O15244 (SLC22A2) K Q 432 rs8177517 Benign
2457 O15244 (SLC22A2) R K 463 rs3907239 Benign
2458 O15245 (SLC22A1) S F 14 rs34447885 Benign
2459 O15245 (SLC22A1) F L 41 rs2297373 Benign
2460 O15245 (SLC22A1) R C 61 rs12208357 Benign
2461 O15245 (SLC22A1) L F 85 rs35546288 Benign
2462 O15245 (SLC22A1) C R 88 rs55918055 Benign
2463 O15245 (SLC22A1) L F 160 rs683369 Benign
2464 O15245 (SLC22A1) S L 189 rs34104736 Benign
2465 O15245 (SLC22A1) G V 220 rs36103319 Benign
2466 O15245 (SLC22A1) P L 283 rs4646277 Benign
2467 O15245 (SLC22A1) R G 287 rs4646278 Benign
2468 O15245 (SLC22A1) P L 341 rs2282143 Benign
2469 O15245 (SLC22A1) R H 342 rs34205214 Benign
2470 O15245 (SLC22A1) G S 401 rs34130495 Benign
2471 O15245 (SLC22A1) M V 408 rs628031 Benign
2472 O15245 (SLC22A1) M I 440 rs35956182 Benign
2473 O15245 (SLC22A1) V I 461 rs34295611 Benign
2474 O15245 (SLC22A1) G R 465 rs34059508 Benign
2475 O15245 (SLC22A1) R M 488 rs35270274 Benign
2476 O15247 (CLIC2) H Q 101 rs398122917 Disease: Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886]
2477 O15254 (ACOX3) E A 34 rs12513296 Benign
2478 O15254 (ACOX3) D N 497 rs13434465 Benign
2479 O15255 (RTL8C) S W 152 rs5930670 Benign
2480 O15259 (NPHP1) R L 5 rs190983114 Benign
2481 O15259 (NPHP1) G R 342 rs121907899 Disease: Nephronophth isis 1 (NPHP1) [MIM:256100]
2482 O15264 (MAPK13) S L 41 rs55776345 Benign
2483 O15264 (MAPK13) A V 282 rs55990045 Benign
2484 O15264 (MAPK13) A T 300 rs41270090 Benign
2485 O15265 (ATXN7) K R 264 rs1053338 Benign
2486 O15265 (ATXN7) I V 573 rs3733124 Benign
2487 O15265 (ATXN7) P S 663 rs1053340 Benign
2488 O15265 (ATXN7) V M 862 rs3774729 Benign
2489 O15266 (SHOX) L V 132 rs137852554 Disease: Leri-Weill dyschondrost eosis (LWD) [MIM:127300]
2490 O15266 (SHOX) R L 153 rs137852555 Disease: Leri-Weill dyschondrost eosis (LWD) [MIM:127300]
2491 O15266 (SHOX) R W 168 rs137852557 Disease: Langer mesomelic dysplasia (LMD) [MIM:249700]
2492 O15266 (SHOX) R C 173 rs137852556 Disease: Leri-Weill dyschondrost eosis (LWD) [MIM:127300]
2493 O15269 (SPTLC1) C W 133 rs119482082 Disease: Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
2494 O15269 (SPTLC1) C Y 133 rs119482081 Disease: Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
2495 O15269 (SPTLC1) V D 144 rs119482083 Disease: Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
2496 O15269 (SPTLC1) R L 151 rs45461899 Benign
2497 O15269 (SPTLC1) S F 331 rs267607087 Disease: Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
2498 O15269 (SPTLC1) S Y 331 rs267607087 Disease: -
2499 O15269 (SPTLC1) A V 352 rs267607088 Disease: Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
2500 O15269 (SPTLC1) G A 387 rs119482084 Benign
2501 O15270 (SPTLC2) A P 182 rs864621998 Disease: Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
2502 O15270 (SPTLC2) R W 183 rs775437084 Disease: Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
2503 O15270 (SPTLC2) V M 359 rs267607090 Disease: Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
2504 O15270 (SPTLC2) G V 382 rs267607089 Disease: Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
2505 O15270 (SPTLC2) I F 504 rs267607091 Disease: Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
2506 O15273 (TCAP) R W 70 rs775636212 Disease: Cardiomyopat hy, familial hypertrophic 25 (CMH25) [MIM:607487]
2507 O15273 (TCAP) L H 74 rs17851031 Benign
2508 O15273 (TCAP) R C 106 rs45578741 Benign
2509 O15273 (TCAP) E Q 132 rs748358368 Disease: -
2510 O15273 (TCAP) T I 137 rs773317399 Disease: Cardiomyopat hy, familial hypertrophic 25 (CMH25) [MIM:607487]
2511 O15273 (TCAP) R H 153 rs149585781 Disease: Cardiomyopat hy, familial hypertrophic 25 (CMH25) [MIM:607487]
2512 O15287 (FANCG) L P 71 - Disease: Fanconi anemia complementat ion group G (FANCG) [MIM:614082]
2513 O15287 (FANCG) G E 294 rs17880082 Benign
2514 O15287 (FANCG) T I 297 rs2237857 Benign
2515 O15287 (FANCG) P S 330 rs4986940 Benign
2516 O15287 (FANCG) S L 378 rs4986939 Benign
2517 O15287 (FANCG) K E 430 rs17881054 Benign
2518 O15287 (FANCG) R Q 513 rs17885240 Benign
2519 O15287 (FANCG) S F 603 rs17878854 Benign
2520 O15294 (OGT) L F 254 rs1131692155 Disease: Mental retardation, X-linked 106 (MRX106) [MIM:300997]
2521 O15294 (OGT) R P 284 rs1114167891 Disease: Mental retardation, X-linked 106 (MRX106) [MIM:300997]
2522 O15296 (ALOX15B) R H 486 rs9895916 Benign
2523 O15296 (ALOX15B) Q R 656 rs4792147 Benign
2524 O15296 (ALOX15B) I V 676 rs7225107 Benign
2525 O15297 (PPM1D) P Q 322 rs17855093 Benign
2526 O15303 (GRM6) P L 46 rs62638197 Disease: Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
2527 O15303 (GRM6) G R 58 rs62638198 Disease: Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
2528 O15303 (GRM6) Q P 59 rs2645329 Benign
2529 O15303 (GRM6) G S 150 rs62638202 Disease: Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
2530 O15303 (GRM6) E V 227 rs17078898 Benign
2531 O15303 (GRM6) I F 236 rs17078896 Benign
2532 O15303 (GRM6) I T 405 rs121434304 Disease: Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
2533 O15303 (GRM6) C Y 522 rs62638208 Disease: Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
2534 O15303 (GRM6) M V 712 rs17078877 Benign
2535 O15303 (GRM6) E K 781 rs62638625 Disease: Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
2536 O15303 (GRM6) A V 807 rs17078874 Benign
2537 O15303 (GRM6) T S 817 rs17078857 Benign
2538 O15305 (PMM2) C Y 9 rs104894532 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2539 O15305 (PMM2) F C 11 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2540 O15305 (PMM2) G E 15 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2541 O15305 (PMM2) P S 20 rs949271895 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2542 O15305 (PMM2) L R 32 rs398123312 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2543 O15305 (PMM2) Q L 37 rs2304472 Benign
2544 O15305 (PMM2) Q H 37 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2545 O15305 (PMM2) G R 42 rs755402538 Benign
2546 O15305 (PMM2) V A 44 rs104894534 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2547 O15305 (PMM2) V L 44 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2548 O15305 (PMM2) Y C 64 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2549 O15305 (PMM2) D Y 65 rs104894527 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2550 O15305 (PMM2) V M 67 rs1318611010 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2551 O15305 (PMM2) P S 69 rs769648248 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2552 O15305 (PMM2) Y C 76 rs1440183322 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2553 O15305 (PMM2) E A 93 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2554 O15305 (PMM2) N K 101 rs769839273 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2555 O15305 (PMM2) C F 103 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2556 O15305 (PMM2) L V 104 rs770458492 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2557 O15305 (PMM2) Y C 106 rs387906824 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2558 O15305 (PMM2) A V 108 rs200503569 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2559 O15305 (PMM2) P L 113 rs80338700 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2560 O15305 (PMM2) G R 117 rs104894530 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2561 O15305 (PMM2) F L 119 rs80338701 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2562 O15305 (PMM2) I T 120 rs368582085 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2563 O15305 (PMM2) R Q 123 rs141498002 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2564 O15305 (PMM2) V M 129 rs104894525 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2565 O15305 (PMM2) P A 131 rs1274547742 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2566 O15305 (PMM2) I F 132 rs753632453 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2567 O15305 (PMM2) I N 132 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2568 O15305 (PMM2) I T 132 rs80338702 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2569 O15305 (PMM2) E K 139 rs80338703 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2570 O15305 (PMM2) R C 141 rs746610168 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2571 O15305 (PMM2) R H 141 rs28936415 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2572 O15305 (PMM2) F L 144 rs150719105 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2573 O15305 (PMM2) D N 148 rs148032587 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2574 O15305 (PMM2) E G 151 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2575 O15305 (PMM2) I T 153 rs150577656 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2576 O15305 (PMM2) F S 157 rs190521996 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2577 O15305 (PMM2) R W 162 rs104894526 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2578 O15305 (PMM2) F V 172 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2579 O15305 (PMM2) G R 175 rs941830625 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2580 O15305 (PMM2) G V 176 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2581 O15305 (PMM2) Q H 177 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2582 O15305 (PMM2) F S 183 rs780581250 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2583 O15305 (PMM2) D G 185 rs1386173214 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2584 O15305 (PMM2) D G 188 rs80338704 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2585 O15305 (PMM2) C G 192 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2586 O15305 (PMM2) H R 195 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2587 O15305 (PMM2) E A 197 rs34258285 Benign
2588 O15305 (PMM2) F S 206 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2589 O15305 (PMM2) G A 208 rs398123309 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2590 O15305 (PMM2) M V 212 rs3743808 Benign
2591 O15305 (PMM2) G S 214 rs1555453238 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2592 O15305 (PMM2) N I 216 rs78290141 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2593 O15305 (PMM2) N S 216 rs78290141 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2594 O15305 (PMM2) D E 217 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2595 O15305 (PMM2) H L 218 rs80338705 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2596 O15305 (PMM2) D E 223 rs104894531 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2597 O15305 (PMM2) D N 223 rs201960869 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2598 O15305 (PMM2) T S 226 rs80338706 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2599 O15305 (PMM2) G C 228 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2600 O15305 (PMM2) G R 228 rs558826439 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2601 O15305 (PMM2) Y S 229 rs398123311 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2602 O15305 (PMM2) V M 231 rs80338707 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2603 O15305 (PMM2) T M 237 rs80338708 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2604 O15305 (PMM2) T R 237 rs80338708 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2605 O15305 (PMM2) R G 238 - Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2606 O15305 (PMM2) R P 238 rs151319324 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2607 O15305 (PMM2) C S 241 rs80338709 Disease: Congenital disorder of glycosylatio n 1A (CDG1A) [MIM:212065]
2608 O15315 (RAD51B) V M 9 rs34583846 Benign
2609 O15315 (RAD51B) F C 82 rs35282642 Benign
2610 O15315 (RAD51B) L W 172 rs34094401 Benign
2611 O15315 (RAD51B) Y C 180 rs28910275 Benign
2612 O15315 (RAD51B) V L 207 rs28908168 Benign
2613 O15315 (RAD51B) K R 243 rs34594234 Benign
2614 O15315 (RAD51B) S A 250 rs33929366 Benign
2615 O15315 (RAD51B) P R 365 rs28908468 Benign
2616 O15321 (TM9SF1) L M 18 rs11549700 Benign
2617 O15321 (TM9SF1) R H 215 rs10583 Benign
2618 O15327 (INPP4B) Y F 311 rs1064226 Benign
2619 O15335 (CHAD) R Q 312 rs35218093 Benign
2620 O15335 (CHAD) T I 350 rs2231510 Benign
2621 O15344 (MID1) C R 266 - Disease: Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]
2622 O15344 (MID1) L P 295 rs104894866 Disease: Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]
2623 O15344 (MID1) I T 536 - Disease: Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]
2624 O15344 (MID1) L P 626 rs28934611 Disease: Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]
2625 O15347 (HMGB3) T A 51 rs16995792 Benign
2626 O15347 (HMGB3) E Q 56 - Benign
2627 O15353 (FOXN1) R C 69 rs2071587 Benign
2628 O15353 (FOXN1) A V 283 - Benign
2629 O15353 (FOXN1) R W 411 rs2286520 Benign
2630 O15353 (FOXN1) A P 599 rs532648 Benign
2631 O15357 (INPPL1) R W 401 rs397514511 Disease: Opsismodyspl asia (OPSMD) [MIM:258480]
2632 O15357 (INPPL1) L I 632 rs61749195 Benign
2633 O15357 (INPPL1) P S 659 rs397514510 Disease: Opsismodyspl asia (OPSMD) [MIM:258480]
2634 O15357 (INPPL1) W C 688 - Disease: Opsismodyspl asia (OPSMD) [MIM:258480]
2635 O15357 (INPPL1) V M 721 rs116848359 Benign
2636 O15357 (INPPL1) F I 722 rs397514512 Disease: Opsismodyspl asia (OPSMD) [MIM:258480]
2637 O15357 (INPPL1) N S 982 rs70940821 Benign
2638 O15357 (INPPL1) A G 1083 rs11548491 Benign
2639 O15357 (INPPL1) A G 1114 rs1049472 Benign
2640 O15360 (FANCA) V D 6 rs1800282 Benign
2641 O15360 (FANCA) T S 131 rs34491278 Benign
2642 O15360 (FANCA) S F 176 rs35566151 Benign
2643 O15360 (FANCA) A V 181 rs17232246 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2644 O15360 (FANCA) L R 210 - Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2645 O15360 (FANCA) L F 244 - Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2646 O15360 (FANCA) D G 252 rs17225943 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2647 O15360 (FANCA) T A 266 rs7190823 Benign
2648 O15360 (FANCA) A G 277 rs35880318 Benign
2649 O15360 (FANCA) Q R 286 rs13336566 Benign
2650 O15360 (FANCA) A V 412 rs11646374 Benign
2651 O15360 (FANCA) R C 435 rs148473140 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2652 O15360 (FANCA) H R 492 - Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2653 O15360 (FANCA) G S 501 rs2239359 Benign
2654 O15360 (FANCA) D N 598 - Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2655 O15360 (FANCA) P A 643 rs17232910 Benign
2656 O15360 (FANCA) L P 660 - Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2657 O15360 (FANCA) M I 717 rs1131660 Benign
2658 O15360 (FANCA) P L 739 rs45441106 Benign
2659 O15360 (FANCA) V E 761 - Benign
2660 O15360 (FANCA) G D 809 rs7195066 Benign
2661 O15360 (FANCA) L P 817 - Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2662 O15360 (FANCA) Y D 843 rs374030577 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2663 O15360 (FANCA) L P 845 rs1173704265 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2664 O15360 (FANCA) S R 858 rs17233141 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2665 O15360 (FANCA) Q P 869 rs780825099 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2666 O15360 (FANCA) R Q 951 rs755922289 Benign
2667 O15360 (FANCA) R W 951 rs755546887 Benign
2668 O15360 (FANCA) R L 1055 rs1429943036 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2669 O15360 (FANCA) R W 1055 rs753063086 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2670 O15360 (FANCA) L P 1082 - Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2671 O15360 (FANCA) S F 1088 rs17233497 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2672 O15360 (FANCA) H P 1110 - Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2673 O15360 (FANCA) R G 1117 rs149277003 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2674 O15360 (FANCA) Q E 1128 rs1439817346 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2675 O15360 (FANCA) T A 1131 rs574034197 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2676 O15360 (FANCA) L P 1249 rs753316789 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2677 O15360 (FANCA) F L 1262 rs1555534579 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2678 O15360 (FANCA) V I 1287 rs17227354 Benign
2679 O15360 (FANCA) W R 1302 rs878853665 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2680 O15360 (FANCA) P L 1324 rs182657062 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2681 O15360 (FANCA) T A 1328 rs9282681 Benign
2682 O15360 (FANCA) D Y 1359 rs1555533313 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2683 O15360 (FANCA) M I 1360 rs1555533300 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2684 O15360 (FANCA) R H 1400 rs149851163 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2685 O15360 (FANCA) H D 1417 rs17227403 Disease: Fanconi anemia, complementat ion group A (FANCA) [MIM:227650]
2686 O15371 (EIF3D) R C 310 rs745920273 Benign
2687 O15374 (SLC16A4) A T 185 rs35157487 Benign
2688 O15374 (SLC16A4) N H 264 rs2271885 Benign
2689 O15379 (HDAC3) N S 411 rs34901743 Benign
2690 O15381 (NVL) V I 295 rs12084919 Benign
2691 O15381 (NVL) C G 359 - Benign
2692 O15381 (NVL) V I 404 rs34631151 Benign
2693 O15382 (BCAT2) T R 186 rs11548193 Benign
2694 O15389 (SIGLEC5) V A 72 rs1973019 Benign
2695 O15389 (SIGLEC5) M V 215 rs1807124 Benign
2696 O15389 (SIGLEC5) F S 322 rs2278831 Benign
2697 O15389 (SIGLEC5) R W 358 rs8108074 Benign
2698 O15389 (SIGLEC5) P A 499 rs3829655 Benign
2699 O15392 (BIRC5) K E 129 rs2071214 Benign
2700 O15393 (TMPRSS2) V M 160 rs12329760 Benign
2701 O15393 (TMPRSS2) S C 254 - Benign
2702 O15393 (TMPRSS2) E Q 329 rs775137340 Benign
2703 O15393 (TMPRSS2) K N 449 rs1056602 Benign
2704 O15393 (TMPRSS2) D N 491 rs779875214 Benign
2705 O15394 (NCAM2) D N 347 rs35654962 Benign
2706 O15394 (NCAM2) L P 350 rs232518 Benign
2707 O15397 (IPO8) I F 6 rs1054423 Benign
2708 O15397 (IPO8) I V 640 rs34119940 Benign
2709 O15399 (GRIN2D) V I 667 rs886040861 Disease: Epileptic encephalopat hy, early infantile, 46 (EIEE46) [MIM:617162]
2710 O15399 (GRIN2D) M I 883 rs781567305 Benign
2711 O15399 (GRIN2D) A P 982 rs1225338399 Benign
2712 O15399 (GRIN2D) G S 1317 rs191119443 Benign
2713 O15403 (SLC16A6) I T 121 rs35397826 Benign
2714 O15403 (SLC16A6) F I 204 rs7222013 Benign
2715 O15403 (SLC16A6) E D 217 rs3744307 Benign
2716 O15403 (SLC16A6) E V 221 rs4410141 Benign
2717 O15405 (TOX3) V M 128 rs16951186 Benign
2718 O15405 (TOX3) Q P 572 rs13332816 Benign
2719 O15409 (FOXP2) R H 553 rs121908377 Disease: Speech- language disorder 1 (SPCH1) [MIM:602081]
2720 O15417 (TNRC18) A G 1193 rs12671708 Benign
2721 O15431 (SLC31A1) P A 25 rs2233915 Benign
2722 O15438 (ABCC3) G D 11 rs11568609 Benign
2723 O15438 (ABCC3) S F 346 rs11568605 Benign
2724 O15438 (ABCC3) R G 1286 rs11568593 Benign
2725 O15438 (ABCC3) R H 1297 rs11568591 Benign
2726 O15438 (ABCC3) Q R 1365 rs11568590 Benign
2727 O15438 (ABCC3) R S 1381 rs45461799 Benign
2728 O15439 (ABCC4) L I 18 rs11568681 Benign
2729 O15439 (ABCC4) P A 78 rs11568689 Benign
2730 O15439 (ABCC4) C G 171 rs4148460 Benign
2731 O15439 (ABCC4) M T 184 rs45454092 Benign
2732 O15439 (ABCC4) G W 187 rs11568658 Benign
2733 O15439 (ABCC4) K E 293 rs11568684 Benign
2734 O15439 (ABCC4) K N 304 rs2274407 Benign
2735 O15439 (ABCC4) T M 356 rs11568701 Benign
2736 O15439 (ABCC4) P L 403 rs11568705 Benign
2737 O15439 (ABCC4) G E 487 rs11568668 Benign
2738 O15439 (ABCC4) K E 498 rs11568669 Benign
2739 O15439 (ABCC4) Y C 556 rs753414892 Benign
2740 O15439 (ABCC4) I M 625 rs11568699 Benign
2741 O15439 (ABCC4) P L 667 rs11568697 Benign
2742 O15439 (ABCC4) M V 744 rs9282570 Benign
2743 O15439 (ABCC4) E K 757 rs3765534 Benign
2744 O15439 (ABCC4) V I 776 rs146708960 Benign
2745 O15439 (ABCC4) R I 820 rs11568659 Benign
2746 O15439 (ABCC4) V F 854 rs11568694 Benign
2747 O15439 (ABCC4) V M 860 rs45477596 Benign
2748 O15439 (ABCC4) I V 866 rs139970608 Benign
2749 O15439 (ABCC4) V L 900 rs45504892 Benign
2750 O15439 (ABCC4) T M 1142 rs11568644 Benign
2751 O15444 (CCL25) T A 23 rs960173 Benign
2752 O15444 (CCL25) H R 101 rs2032887 Benign
2753 O15444 (CCL25) T M 104 rs1129763 Benign
2754 O15446 (POLR1G) K T 259 rs735482 Benign
2755 O15446 (POLR1G) T A 282 rs3212989 Benign
2756 O15446 (POLR1G) K E 373 rs762562 Benign
2757 O15446 (POLR1G) D N 394 rs2336219 Benign
2758 O15446 (POLR1G) K Q 503 rs3212986 Benign
2759 O15446 (POLR1G) Q K 504 rs3212986 Benign
2760 O15455 (TLR3) N I 284 rs5743316 Benign
2761 O15455 (TLR3) Y D 307 rs5743317 Benign
2762 O15455 (TLR3) L F 412 rs3775291 Benign
2763 O15455 (TLR3) P S 554 rs121434431 Disease: Encephalopat hy, acute, infection- induced, Herpes- specific, 2 (IIAE2) [MIM:613002]
2764 O15455 (TLR3) S T 737 rs5743318 Benign
2765 O15457 (MSH4) A V 60 rs5745311 Benign
2766 O15457 (MSH4) A T 90 rs5745324 Benign
2767 O15457 (MSH4) A T 97 rs5745325 Benign
2768 O15457 (MSH4) E K 162 rs5745329 Benign
2769 O15457 (MSH4) Y C 589 rs5745459 Benign
2770 O15457 (MSH4) S N 914 rs5745549 Benign
2771 O15460 (P4HA2) Q R 140 rs764211125 Disease: Myopia 25, autosomal dominant (MYP25) [MIM:617238]
2772 O15460 (P4HA2) E K 291 rs758872875 Disease: Myopia 25, autosomal dominant (MYP25) [MIM:617238]
2773 O15479 (MAGEB2) E K 61 rs2529541 Benign
2774 O15479 (MAGEB2) G R 318 rs5972090 Benign
2775 O15480 (MAGEB3) R H 107 rs2071308 Benign
2776 O15480 (MAGEB3) I T 112 rs2071309 Benign
2777 O15484 (CAPN5) R L 243 rs397514601 Disease: Vitreoretino pathy, neovascular inflammatory (VRNI) [MIM:193235]
2778 O15484 (CAPN5) L P 244 rs397514602 Disease: Vitreoretino pathy, neovascular inflammatory (VRNI) [MIM:193235]
2779 O15488 (GYG2) H Y 7 rs11797037 Benign
2780 O15488 (GYG2) G R 194 rs200824650 Benign
2781 O15488 (GYG2) A V 270 rs2306734 Benign
2782 O15488 (GYG2) H R 313 rs2306735 Benign
2783 O15488 (GYG2) R C 373 rs17330993 Benign
2784 O15492 (RGS16) H R 137 rs1144566 Benign
2785 O15499 (GSC2) R C 47 rs34341950 Benign
2786 O15503 (INSIG1) A T 27 rs1129825 Benign
2787 O15504 (NUP42) D N 391 rs13243961 Benign
2788 O15504 (NUP42) K N 392 rs34902971 Benign
2789 O15516 (CLOCK) S C 208 rs34897046 Benign
2790 O15516 (CLOCK) E K 380 rs1056478 Benign
2791 O15516 (CLOCK) L I 395 rs6855837 Benign
2792 O15516 (CLOCK) H R 542 rs3762836 Benign
2793 O15519 (CFLAR) L I 203 rs13424615 Benign
2794 O15520 (FGF10) C F 106 rs104893885 Disease: Lacrimo- auriculo- dento- digital syndrome (LADDS) [MIM:149730]
2795 O15520 (FGF10) I R 156 rs104893886 Disease: Lacrimo- auriculo- dento- digital syndrome (LADDS) [MIM:149730]
2796 O15522 (NKX2-8) D A 16 - Benign
2797 O15524 (SOCS1) Q H 210 rs11549428 Benign
2798 O15527 (OGG1) G E 12 rs772520254 Benign
2799 O15527 (OGG1) R Q 46 rs104893751 Benign
2800 O15527 (OGG1) A S 85 rs17050550 Benign
2801 O15527 (OGG1) R Q 131 rs747638147 Benign
2802 O15527 (OGG1) R H 154 rs56053615 Benign
2803 O15527 (OGG1) R Q 229 rs1805373 Benign
2804 O15527 (OGG1) A V 288 rs3219012 Benign
2805 O15527 (OGG1) S T 320 rs1801128 Benign
2806 O15527 (OGG1) D N 322 rs3219014 Benign
2807 O15527 (OGG1) S C 326 rs1052133 Benign
2808 O15528 (CYP27B1) Q H 65 rs868704228 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2809 O15528 (CYP27B1) R H 107 rs28934604 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2810 O15528 (CYP27B1) G E 125 rs28934605 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2811 O15528 (CYP27B1) V L 166 rs8176344 Benign
2812 O15528 (CYP27B1) E G 189 rs118204012 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2813 O15528 (CYP27B1) E K 189 - Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2814 O15528 (CYP27B1) T R 321 rs118204007 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2815 O15528 (CYP27B1) S Y 323 - Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2816 O15528 (CYP27B1) R P 335 rs28934606 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2817 O15528 (CYP27B1) L F 343 rs118204011 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2818 O15528 (CYP27B1) P S 382 rs28934607 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2819 O15528 (CYP27B1) R C 389 rs118204010 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2820 O15528 (CYP27B1) R G 389 rs118204010 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2821 O15528 (CYP27B1) R H 389 rs118204009 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2822 O15528 (CYP27B1) T I 409 rs118204008 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2823 O15528 (CYP27B1) R P 429 rs568165874 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2824 O15528 (CYP27B1) R C 453 rs767480544 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2825 O15528 (CYP27B1) V G 478 - Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2826 O15528 (CYP27B1) P R 497 rs1161799032 Disease: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
2827 O15529 (GPR42) R Q 44 rs878906072 Benign
2828 O15529 (GPR42) C R 45 rs423385 Benign
2829 O15529 (GPR42) W R 174 rs424241 Benign
2830 O15529 (GPR42) V L 227 rs403989 Benign
2831 O15529 (GPR42) V A 256 rs424715 Benign
2832 O15529 (GPR42) N S 346 rs381478 Benign
2833 O15533 (TAPBP) R T 260 rs2071888 Benign
2834 O15534 (PER1) A P 962 rs2585405 Benign
2835 O15534 (PER1) R H 968 rs3027193 Benign
2836 O15535 (ZSCAN9) H R 254 rs148219046 Benign
2837 O15537 (RS1) L H 12 rs62645879 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2838 O15537 (RS1) L P 13 rs104894935 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2839 O15537 (RS1) C S 59 rs62645889 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2840 O15537 (RS1) Y C 65 rs62645892 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2841 O15537 (RS1) G A 70 - Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2842 O15537 (RS1) G S 70 rs62645894 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2843 O15537 (RS1) E D 72 rs104894932 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2844 O15537 (RS1) E G 72 - Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2845 O15537 (RS1) E K 72 rs104894928 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2846 O15537 (RS1) S P 73 rs62645899 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2847 O15537 (RS1) G V 74 rs104894933 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2848 O15537 (RS1) Y C 89 rs61752060 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2849 O15537 (RS1) W R 96 rs61752063 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2850 O15537 (RS1) A E 98 rs61752065 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2851 O15537 (RS1) R Q 102 rs61752068 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2852 O15537 (RS1) R W 102 rs61752067 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2853 O15537 (RS1) L R 103 rs61752069 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2854 O15537 (RS1) F C 108 rs61752072 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2855 O15537 (RS1) G E 109 rs281865345 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2856 O15537 (RS1) G R 109 rs104894934 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2857 O15537 (RS1) G W 109 rs104894934 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2858 O15537 (RS1) C Y 110 rs61752075 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2859 O15537 (RS1) W C 112 rs61752144 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2860 O15537 (RS1) L F 113 rs61752145 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2861 O15537 (RS1) L P 127 rs61752149 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2862 O15537 (RS1) G V 135 rs61752152 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2863 O15537 (RS1) I T 136 rs61752153 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2864 O15537 (RS1) T A 138 rs61752154 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2865 O15537 (RS1) G E 140 rs61752157 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2866 O15537 (RS1) G R 140 rs61752156 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2867 O15537 (RS1) R C 141 rs61752158 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2868 O15537 (RS1) R G 141 rs61752158 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2869 O15537 (RS1) R H 141 rs61752159 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2870 O15537 (RS1) C W 142 rs1800001 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2871 O15537 (RS1) D V 143 rs61753161 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2872 O15537 (RS1) D H 145 - Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2873 O15537 (RS1) E D 146 rs61753163 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2874 O15537 (RS1) E K 146 rs61753162 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2875 O15537 (RS1) Y C 155 rs61753165 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2876 O15537 (RS1) R G 156 - Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2877 O15537 (RS1) D N 158 rs1800002 Benign
2878 O15537 (RS1) W C 163 rs61753166 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2879 O15537 (RS1) G D 178 rs61753169 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2880 O15537 (RS1) R C 182 rs61753171 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2881 O15537 (RS1) P L 192 - Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2882 O15537 (RS1) P R 192 rs61753175 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2883 O15537 (RS1) P S 192 rs61753174 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2884 O15537 (RS1) P L 193 rs281865352 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2885 O15537 (RS1) P S 193 rs281865351 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2886 O15537 (RS1) R C 197 rs281865354 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2887 O15537 (RS1) R H 197 rs281865355 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2888 O15537 (RS1) I T 199 rs281865356 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2889 O15537 (RS1) R C 200 rs281865357 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2890 O15537 (RS1) R H 200 rs281865358 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2891 O15537 (RS1) P L 203 rs104894930 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2892 O15537 (RS1) W C 206 - Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2893 O15537 (RS1) H Q 207 rs281865360 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2894 O15537 (RS1) R C 209 rs281865361 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2895 O15537 (RS1) R H 209 rs281865362 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2896 O15537 (RS1) R Q 213 rs281865364 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2897 O15537 (RS1) R W 213 rs281865365 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2898 O15537 (RS1) E K 215 rs281865367 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2899 O15537 (RS1) E Q 215 rs281865367 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2900 O15537 (RS1) L P 216 rs281865368 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2901 O15537 (RS1) C G 219 rs281865369 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2902 O15537 (RS1) C R 219 rs281865369 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2903 O15537 (RS1) K N 222 rs1800004 Benign
2904 O15537 (RS1) C R 223 rs104894929 Disease: Retinoschisi s juvenile X-linked 1 (XLRS1) [MIM:312700]
2905 O15540 (FABP7) T M 61 rs2279381 Benign
2906 O15547 (P2RX6) V G 38 rs2006846 Benign
2907 O15547 (P2RX6) R H 242 rs2277838 Benign
2908 O15550 (KDM6A) A T 30 rs6529 Benign
2909 O15550 (KDM6A) Q H 497 rs6530 Benign
2910 O15550 (KDM6A) T A 581 rs34922269 Benign
2911 O15550 (KDM6A) T K 726 rs2230018 Benign
2912 O15552 (FFAR2) L H 211 rs409093 Benign
2913 O15553 (MEFV) V L 33 rs11466016 Benign
2914 O15553 (MEFV) R W 42 rs61754767 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2915 O15553 (MEFV) S R 108 rs104895103 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2916 O15553 (MEFV) L P 110 rs11466018 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2917 O15553 (MEFV) E Q 148 rs3743930 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2918 O15553 (MEFV) E V 148 rs104895076 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2919 O15553 (MEFV) E A 163 rs104895106 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2920 O15553 (MEFV) E D 167 rs104895079 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2921 O15553 (MEFV) T I 177 rs104895143 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2922 O15553 (MEFV) R Q 202 rs224222 Benign
2923 O15553 (MEFV) E K 230 rs104895080 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2924 O15553 (MEFV) T I 267 rs104895081 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2925 O15553 (MEFV) E K 319 rs104895110 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2926 O15553 (MEFV) R Q 408 rs11466024 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2927 O15553 (MEFV) Q E 440 rs11466026 Benign
2928 O15553 (MEFV) E K 474 rs104895104 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2929 O15553 (MEFV) H Y 478 rs104895105 Disease: Familial Mediterranea n fever, autosomal dominant (ADFMF) [MIM:134610]
2930 O15553 (MEFV) F L 479 rs104895083 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2931 O15553 (MEFV) T A 577 - Disease: -
2932 O15553 (MEFV) T N 577 rs1057516210 Disease: -
2933 O15553 (MEFV) T S 577 rs104895193 Disease: -
2934 O15553 (MEFV) F L 585 rs11466043 Benign
2935 O15553 (MEFV) G S 632 rs104895128 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2936 O15553 (MEFV) I M 640 rs104895115 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2937 O15553 (MEFV) I F 641 rs104895147 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2938 O15553 (MEFV) P L 646 rs104895107 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2939 O15553 (MEFV) L P 649 rs104895108 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2940 O15553 (MEFV) R H 653 rs104895085 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2941 O15553 (MEFV) E A 656 rs104895086 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2942 O15553 (MEFV) D N 661 rs104895120 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2943 O15553 (MEFV) S N 675 rs104895087 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2944 O15553 (MEFV) G E 678 rs104895088 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2945 O15553 (MEFV) M I 680 rs28940580 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2946 O15553 (MEFV) M L 680 rs104895089 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2947 O15553 (MEFV) T I 681 rs104895090 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2948 O15553 (MEFV) Y C 688 rs104895122 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2949 O15553 (MEFV) M I 694 rs28940578 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2950 O15553 (MEFV) M K 694 - Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2951 O15553 (MEFV) M L 694 rs61752717 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2952 O15553 (MEFV) M V 694 rs61752717 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2953 O15553 (MEFV) K M 695 rs104895094 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2954 O15553 (MEFV) K R 695 rs104895094 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2955 O15553 (MEFV) S C 702 rs104895166 Benign
2956 O15553 (MEFV) V I 704 rs104895096 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2957 O15553 (MEFV) P S 705 rs104895145 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2958 O15553 (MEFV) I M 720 rs104895102 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2959 O15553 (MEFV) V A 726 rs28940579 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2960 O15553 (MEFV) F L 743 rs104895152 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2961 O15553 (MEFV) P S 758 rs104895114 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2962 O15553 (MEFV) R H 761 rs104895097 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2963 O15553 (MEFV) P T 780 rs104895154 Disease: Familial Mediterranea n fever, autosomal recessive (ARFMF) [MIM:249100]
2964 O15554 (KCNN4) V E 282 rs1057519077 Disease: Dehydrated hereditary stomatocytos is 2 (DHS2) [MIM:616689]
2965 O15554 (KCNN4) V M 282 rs1057519076 Disease: Dehydrated hereditary stomatocytos is 2 (DHS2) [MIM:616689]
2966 O15554 (KCNN4) R H 352 rs774455945 Disease: Dehydrated hereditary stomatocytos is 2 (DHS2) [MIM:616689]
2967 O42043 (ERVK-18) C Y 97 - Benign
2968 O42043 (ERVK-18) V I 272 - Benign
2969 O42043 (ERVK-18) V I 348 - Benign
2970 O42043 (ERVK-18) V I 534 - Benign
2971 O43147 (SGSM2) L M 63 rs17853891 Benign
2972 O43147 (SGSM2) R K 238 rs745400 Benign
2973 O43147 (SGSM2) R S 244 rs17853888 Benign
2974 O43147 (SGSM2) H R 329 rs17857178 Benign
2975 O43147 (SGSM2) R Q 374 rs2248821 Benign
2976 O43147 (SGSM2) D V 968 rs17857180 Benign
2977 O43149 (ZZEF1) V A 30 rs1454121 Benign
2978 O43149 (ZZEF1) I V 1021 rs16953687 Benign
2979 O43149 (ZZEF1) S A 1437 rs4790555 Benign
2980 O43149 (ZZEF1) L P 1972 rs781852 Benign
2981 O43149 (ZZEF1) I V 2014 rs781831 Benign
2982 O43149 (ZZEF1) P S 2051 rs1006954 Benign
2983 O43149 (ZZEF1) Y H 2301 rs34357158 Benign
2984 O43149 (ZZEF1) L P 2303 rs35638819 Benign
2985 O43149 (ZZEF1) E Q 2369 rs711177 Benign
2986 O43149 (ZZEF1) A T 2421 rs781861 Benign
2987 O43150 (ASAP2) E D 748 rs2715860 Benign
2988 O43151 (TET3) R Q 712 rs57955681 Benign
2989 O43155 (FLRT2) R Q 486 rs17646457 Benign
2990 O43156 (TTI1) R H 450 rs36059660 Benign
2991 O43156 (TTI1) A V 671 rs1057238 Benign
2992 O43156 (TTI1) K E 751 rs6091654 Benign
2993 O43156 (TTI1) A T 979 rs1064275 Benign
2994 O43156 (TTI1) R K 1028 rs34900517 Benign
2995 O43157 (PLXNB1) R W 389 rs34050056 Benign
2996 O43157 (PLXNB1) S L 753 rs35592743 Benign
2997 O43159 (RRP8) A P 145 rs11040934 Benign
2998 O43159 (RRP8) P S 329 rs17834692 Benign
2999 O43164 (PJA2) E G 176 rs35224970 Benign
3000 O43164 (PJA2) Q R 297 rs1045706 Benign
3001 O43164 (PJA2) A T 705 rs246105 Benign
3002 O43166 (SIPA1L1) P T 56 rs12884638 Benign
3003 O43167 (ZBTB24) C G 408 rs387907105 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 2 (ICF2) [MIM:614069]
3004 O43167 (ZBTB24) A T 518 rs2232448 Benign
3005 O43172 (PRPF4) R H 192 rs41296057 Disease: Retinitis pigmentosa 70 (RP70) [MIM:615922]
3006 O43172 (PRPF4) P L 315 rs587777599 Disease: Retinitis pigmentosa 70 (RP70) [MIM:615922]
3007 O43173 (ST8SIA3) K T 91 rs3745060 Benign
3008 O43175 (PHGDH) R W 135 rs267606949 Disease: Phosphoglyce rate dehydrogenas e deficiency (PHGDHD) [MIM:601815]
3009 O43175 (PHGDH) G R 140 rs587777770 Disease: Neu-Laxova syndrome 1 (NLS1) [MIM:256520]
3010 O43175 (PHGDH) R Q 163 rs587777483 Disease: Neu-Laxova syndrome 1 (NLS1) [MIM:256520]
3011 O43175 (PHGDH) V M 261 rs267606947 Disease: Phosphoglyce rate dehydrogenas e deficiency (PHGDHD) [MIM:601815]
3012 O43175 (PHGDH) A T 373 rs201553627 Disease: Phosphoglyce rate dehydrogenas e deficiency (PHGDHD) [MIM:601815]
3013 O43175 (PHGDH) G S 377 rs267606948 Disease: Phosphoglyce rate dehydrogenas e deficiency (PHGDHD) [MIM:601815]
3014 O43175 (PHGDH) V M 425 rs121907988 Disease: Phosphoglyce rate dehydrogenas e deficiency (PHGDHD) [MIM:601815]
3015 O43175 (PHGDH) V M 490 rs121907987 Disease: Phosphoglyce rate dehydrogenas e deficiency (PHGDHD) [MIM:601815]
3016 O43181 (NDUFS4) D H 119 rs747359752 Disease: Mitochondria l complex I deficiency, nuclear type 1 (MC1DN1) [MIM:252010]
3017 O43181 (NDUFS4) T P 174 rs1044692 Benign
3018 O43182 (ARHGAP6) D E 791 rs1009758 Benign
3019 O43184 (ADAM12) G R 48 rs3740199 Benign
3020 O43186 (CRX) H D 10 rs139340178 Benign
3021 O43186 (CRX) R Q 41 rs61748436 Disease: Retinitis pigmentosa (RP) [MIM:268000]
3022 O43186 (CRX) R W 41 rs104894672 Disease: Cone-rod dystrophy 2 (CORD2) [MIM:120970]
3023 O43186 (CRX) V I 66 rs61748438 Benign
3024 O43186 (CRX) E A 80 rs104894671 Disease: Cone-rod dystrophy 2 (CORD2) [MIM:120970]
3025 O43186 (CRX) K N 88 - Disease: Leber congenital amaurosis 7 (LCA7) [MIM:613829]
3026 O43186 (CRX) R W 90 rs104894673 Disease: Leber congenital amaurosis 7 (LCA7) [MIM:613829]
3027 O43186 (CRX) G D 122 rs61748441 Benign
3028 O43186 (CRX) T A 154 rs763651232 Benign
3029 O43186 (CRX) A T 158 rs61748445 Benign
3030 O43186 (CRX) V M 242 rs61748459 Disease: Cone-rod dystrophy 2 (CORD2) [MIM:120970]
3031 O43187 (IRAK2) R Q 43 rs34945585 Benign
3032 O43187 (IRAK2) S Y 47 rs11465864 Benign
3033 O43187 (IRAK2) I V 99 rs55898544 Benign
3034 O43187 (IRAK2) R T 147 rs56053222 Benign
3035 O43187 (IRAK2) R G 214 rs35060588 Benign
3036 O43187 (IRAK2) L V 392 rs3844283 Benign
3037 O43187 (IRAK2) D E 431 rs708035 Benign
3038 O43187 (IRAK2) L V 439 rs11465927 Benign
3039 O43187 (IRAK2) D N 469 rs56242986 Benign
3040 O43187 (IRAK2) L I 503 rs9854688 Benign
3041 O43187 (IRAK2) R W 566 rs55740652 Benign
3042 O43187 (IRAK2) D H 574 rs11465930 Benign
3043 O43189 (PHF1) T S 42 rs6934613 Benign
3044 O43189 (PHF1) R K 304 rs3116713 Benign
3045 O43194 (GPR39) A V 50 rs2241764 Benign
3046 O43194 (GPR39) R C 390 rs16838944 Benign
3047 O43196 (MSH5) P S 29 rs2075789 Benign
3048 O43196 (MSH5) L F 85 rs28381349 Benign
3049 O43196 (MSH5) Y C 202 rs28381358 Benign
3050 O43196 (MSH5) V F 206 rs28381359 Benign
3051 O43196 (MSH5) R G 351 rs28399976 Benign
3052 O43196 (MSH5) L F 377 rs28399977 Benign
3053 O43196 (MSH5) D Y 487 rs1060505055 Disease: Premature ovarian failure 13 (POF13) [MIM:617442]
3054 O43196 (MSH5) P S 786 rs1802127 Benign
3055 O43236 (SEPTIN4) E V 311 rs17741424 Benign
3056 O43240 (KLK10) S A 50 rs3745535 Benign
3057 O43240 (KLK10) L P 149 rs2075690 Benign
3058 O43246 (SLC7A4) T I 28 rs2072550 Benign
3059 O43246 (SLC7A4) A T 349 rs2270384 Benign
3060 O43246 (SLC7A4) F Y 608 rs55700350 Benign
3061 O43248 (HOXC11) P S 130 rs34652380 Benign
3062 O43248 (HOXC11) A V 222 rs12427129 Benign
3063 O43252 (PAPSS1) L F 270 rs1127008 Benign
3064 O43252 (PAPSS1) S L 587 rs1127014 Benign
3065 O43264 (ZW10) I M 77 rs2271796 Benign
3066 O43272 (PRODH) P L 8 rs181332931 Benign
3067 O43272 (PRODH) Q P 19 rs2008720 Benign
3068 O43272 (PRODH) P S 30 rs3815655 Benign
3069 O43272 (PRODH) A T 58 rs146648839 Benign
3070 O43272 (PRODH) A V 167 rs761544165 Benign
3071 O43272 (PRODH) R Q 185 rs11913840 Benign
3072 O43272 (PRODH) R W 185 rs4819756 Benign
3073 O43272 (PRODH) T N 275 rs5747933 Benign
3074 O43272 (PRODH) L M 289 rs137852934 Disease: Hyperproline mia 1 (HYRPRO1) [MIM:239500]
3075 O43272 (PRODH) P L 406 rs3970555 Disease: Schizophreni a 4 (SCZD4) [MIM:600850]
3076 O43272 (PRODH) D N 426 - Disease: Hyperproline mia 1 (HYRPRO1) [MIM:239500]
3077 O43272 (PRODH) V M 427 rs2238731 Disease: Schizophreni a 4 (SCZD4) [MIM:600850]
3078 O43272 (PRODH) R H 431 rs2904552 Disease: Hyperproline mia 1 (HYRPRO1) [MIM:239500]
3079 O43272 (PRODH) L P 441 rs2904551 Disease: Schizophreni a 4 (SCZD4) [MIM:600850]
3080 O43272 (PRODH) G D 444 rs765090516 Benign
3081 O43272 (PRODH) R C 453 rs3970559 Disease: Schizophreni a 4 (SCZD4) [MIM:600850]
3082 O43272 (PRODH) A S 455 rs1807467 Disease: Hyperproline mia 1 (HYRPRO1) [MIM:239500]
3083 O43272 (PRODH) T M 466 rs2870984 Disease: Schizophreni a 4 (SCZD4) [MIM:600850]
3084 O43272 (PRODH) A T 472 rs2870983 Disease: Schizophreni a 4 (SCZD4) [MIM:600850]
3085 O43272 (PRODH) Q E 521 rs193919334 Benign
3086 O43272 (PRODH) Q R 521 rs450046 Disease: Schizophreni a 4 (SCZD4) [MIM:600850]
3087 O43278 (SPINT1) Y C 123 rs11549915 Benign
3088 O43278 (SPINT1) T R 142 rs12323939 Benign
3089 O43278 (SPINT1) P L 337 rs7165897 Benign
3090 O43280 (TREH) T A 389 rs2276065 Benign
3091 O43280 (TREH) Y H 449 rs11827611 Benign
3092 O43280 (TREH) R W 486 rs2276064 Benign
3093 O43280 (TREH) A P 558 rs6589671 Benign
3094 O43280 (TREH) A P 561 rs6589670 Benign
3095 O43281 (EFS) T A 7 rs2231798 Benign
3096 O43281 (EFS) V M 100 rs2231801 Benign
3097 O43283 (MAP3K13) E K 44 rs35266179 Benign
3098 O43283 (MAP3K13) R G 517 rs56408536 Benign
3099 O43283 (MAP3K13) E K 712 rs56309231 Benign
3100 O43283 (MAP3K13) R H 915 rs3732576 Benign
3101 O43286 (B4GALT5) G S 61 rs2273086 Benign
3102 O43286 (B4GALT5) D N 368 rs235035 Benign
3103 O43286 (B4GALT5) Y D 371 rs35195217 Benign
3104 O43290 (SART1) R C 245 rs688862 Benign
3105 O43290 (SART1) S A 463 rs35036096 Benign
3106 O43290 (SART1) G A 485 rs660118 Benign
3107 O43291 (SPINT2) Y C 163 rs121908403 Disease: Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3) [MIM:270420]
3108 O43291 (SPINT2) V L 200 rs11548457 Benign
3109 O43292 (GPAA1) S L 51 - Disease: Glycosylphos phatidylinos itol biosynthesis defect 15 (GPIBD15) [MIM:617810]
3110 O43292 (GPAA1) W S 176 rs782220208 Disease: Glycosylphos phatidylinos itol biosynthesis defect 15 (GPIBD15) [MIM:617810]
3111 O43292 (GPAA1) L P 290 rs1554764058 Disease: Glycosylphos phatidylinos itol biosynthesis defect 15 (GPIBD15) [MIM:617810]
3112 O43292 (GPAA1) L P 291 rs1010907740 Disease: Glycosylphos phatidylinos itol biosynthesis defect 15 (GPIBD15) [MIM:617810]
3113 O43292 (GPAA1) A P 389 - Disease: Glycosylphos phatidylinos itol biosynthesis defect 15 (GPIBD15) [MIM:617810]
3114 O43294 (TGFB1I1) Q H 129 rs45475699 Benign
3115 O43295 (SRGAP3) I V 628 rs2271207 Benign
3116 O43296 (ZNF264) R T 181 rs2074858 Benign
3117 O43296 (ZNF264) R H 183 rs917340 Benign
3118 O43299 (AP5Z1) S C 94 rs11549839 Benign
3119 O43303 (CCP110) R S 69 rs16972129 Benign
3120 O43303 (CCP110) P L 171 rs3751821 Benign
3121 O43303 (CCP110) I M 252 rs226891 Benign
3122 O43303 (CCP110) F I 347 rs11645625 Benign
3123 O43303 (CCP110) M I 375 rs7190666 Benign
3124 O43306 (ADCY6) A S 674 rs3730071 Benign
3125 O43306 (ADCY6) R C 1116 rs786204798 Disease: Lethal congenital contracture syndrome 8 (LCCS8) [MIM:616287]
3126 O43307 (ARHGEF9) G A 55 rs121918361 Disease: Epileptic encephalopat hy, early infantile, 8 (EIEE8) [MIM:300607]
3127 O43307 (ARHGEF9) R H 290 - Disease: Epileptic encephalopat hy, early infantile, 8 (EIEE8) [MIM:300607]
3128 O43307 (ARHGEF9) E K 401 - Disease: -
3129 O43310 (CTIF) P L 82 rs2277712 Benign
3130 O43312 (MTSS1) N I 305 rs2303956 Benign
3131 O43312 (MTSS1) T A 725 rs3829037 Benign
3132 O43313 (ATMIN) S P 240 rs2278022 Benign
3133 O43313 (ATMIN) K E 305 rs2278023 Benign
3134 O43314 (PPIP5K2) R H 837 rs548137246 Disease: Deafness, autosomal recessive, 100 (DFNB100) [MIM:618422]
3135 O43314 (PPIP5K2) A G 944 rs17155115 Benign
3136 O43314 (PPIP5K2) E K 985 rs12519525 Benign
3137 O43314 (PPIP5K2) R K 1003 rs12520040 Benign
3138 O43314 (PPIP5K2) P Q 1206 rs17155138 Benign
3139 O43314 (PPIP5K2) T M 1232 rs17155147 Benign
3140 O43315 (AQP9) T A 279 rs1867380 Benign
3141 O43316 (PAX4) R Q 39 rs115887120 Benign
3142 O43316 (PAX4) R W 45 - Disease: Diabetes mellitus, ketosis- prone (KPD) [MIM:612227]
3143 O43316 (PAX4) R W 129 rs114202595 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
3144 O43316 (PAX4) R W 141 rs2233578 Disease: Diabetes mellitus, ketosis- prone (KPD) [MIM:612227]
3145 O43316 (PAX4) R W 172 - Disease: Maturity- onset diabetes of the young 9 (MODY9) [MIM:612225]
3146 O43316 (PAX4) R C 191 rs114315130 Benign
3147 O43316 (PAX4) R H 200 rs2233580 Benign
3148 O43316 (PAX4) R S 200 rs3824004 Benign
3149 O43318 (MAP3K7) E Q 70 rs886039231 Disease: Frontometaph yseal dysplasia 2 (FMD2) [MIM:617137]
3150 O43318 (MAP3K7) V E 100 rs886039232 Disease: Frontometaph yseal dysplasia 2 (FMD2) [MIM:617137]
3151 O43318 (MAP3K7) G C 110 rs886039235 Disease: Cardiospondy locarpofacia l syndrome (CSCF) [MIM:157800]
3152 O43318 (MAP3K7) G R 168 rs886039233 Disease: Frontometaph yseal dysplasia 2 (FMD2) [MIM:617137]
3153 O43318 (MAP3K7) W R 241 rs886039237 Disease: Cardiospondy locarpofacia l syndrome (CSCF) [MIM:157800]
3154 O43318 (MAP3K7) P L 512 rs886039230 Disease: Frontometaph yseal dysplasia 2 (FMD2) [MIM:617137]
3155 O43320 (FGF16) R L 68 - Disease: Metacarpal 4-5 fusion (MF4) [MIM:309630]
3156 O43323 (DHH) L P 162 rs111033589 Disease: 46,XY sex reversal 7 (SRXY7) [MIM:233420]
3157 O43345 (ZNF208) E K 282 rs2007506 Benign
3158 O43345 (ZNF208) S L 298 rs12462668 Benign
3159 O43345 (ZNF208) E Q 456 rs7255075 Benign
3160 O43345 (ZNF208) K E 640 rs10425763 Benign
3161 O43345 (ZNF208) D G 1035 rs8108957 Benign
3162 O43353 (RIPK2) I T 259 rs2230801 Benign
3163 O43353 (RIPK2) L V 268 rs35004667 Benign
3164 O43353 (RIPK2) K N 313 rs35395048 Benign
3165 O43361 (ZNF749) Q R 243 rs12986235 Benign
3166 O43361 (ZNF749) A T 405 rs2240038 Benign
3167 O43361 (ZNF749) I R 771 rs7246856 Benign
3168 O43364 (HOXA2) Q K 186 rs119489104 Disease: Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290]
3169 O43374 (RASA4) M V 352 rs144395384 Benign
3170 O43374 (RASA4) R P 432 rs886346 Benign
3171 O43379 (WDR62) V M 65 rs387907084 Disease: Microcephaly 2, primary, autosomal recessive, with or without cortical malformation s (MCPH2) [MIM:604317]
3172 O43379 (WDR62) W S 224 rs267607176 Disease: Microcephaly 2, primary, autosomal recessive, with or without cortical malformation s (MCPH2) [MIM:604317]
3173 O43379 (WDR62) K R 289 rs12327568 Benign
3174 O43379 (WDR62) R H 438 rs387907082 Disease: Microcephaly 2, primary, autosomal recessive, with or without cortical malformation s (MCPH2) [MIM:604317]
3175 O43379 (WDR62) D N 511 rs387907083 Disease: Microcephaly 2, primary, autosomal recessive, with or without cortical malformation s (MCPH2) [MIM:604317]
3176 O43379 (WDR62) E K 526 rs147875659 Disease: Microcephaly 2, primary, autosomal recessive, with or without cortical malformation s (MCPH2) [MIM:604317]
3177 O43379 (WDR62) L S 850 rs2285745 Benign
3178 O43379 (WDR62) Q L 1305 rs2074435 Benign
3179 O43379 (WDR62) Q E 1311 rs35811023 Benign
3180 O43379 (WDR62) G S 1370 rs17851503 Benign
3181 O43379 (WDR62) L F 1385 rs1008328 Benign
3182 O43395 (PRPF3) K N 12 rs12736964 Benign
3183 O43395 (PRPF3) P S 493 rs121434242 Disease: Retinitis pigmentosa 18 (RP18) [MIM:601414]
3184 O43395 (PRPF3) T M 494 rs121434241 Disease: Retinitis pigmentosa 18 (RP18) [MIM:601414]
3185 O43405 (COCH) G D 38 - Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3186 O43405 (COCH) P S 51 rs28938175 Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3187 O43405 (COCH) V G 66 rs121908927 Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3188 O43405 (COCH) G V 87 - Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3189 O43405 (COCH) G W 87 - Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3190 O43405 (COCH) G E 88 rs121908928 Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3191 O43405 (COCH) I N 109 rs121908930 Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3192 O43405 (COCH) I T 109 rs121908930 Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3193 O43405 (COCH) W R 117 rs121908929 Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3194 O43405 (COCH) A T 119 rs121908931 Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3195 O43405 (COCH) G R 135 rs28400035 Benign
3196 O43405 (COCH) C Y 162 - Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3197 O43405 (COCH) D N 281 rs28362775 Benign
3198 O43405 (COCH) T S 352 rs1045644 Benign
3199 O43405 (COCH) I V 402 rs28362778 Benign
3200 O43405 (COCH) M T 512 rs121908934 Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3201 O43405 (COCH) E G 518 rs17097468 Benign
3202 O43405 (COCH) F C 527 - Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3203 O43405 (COCH) P S 532 rs1801963 Benign
3204 O43405 (COCH) C Y 542 rs121908932 Disease: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
3205 O43423 (ANP32C) A V 23 rs2288674 Benign
3206 O43423 (ANP32C) R K 71 rs2288675 Benign
3207 O43423 (ANP32C) L P 105 rs17008716 Benign
3208 O43423 (ANP32C) Y H 140 - Benign
3209 O43423 (ANP32C) E G 204 rs2288676 Benign
3210 O43424 (GRID2) T M 68 rs34144324 Benign
3211 O43424 (GRID2) F S 398 rs34796082 Benign
3212 O43424 (GRID2) V I 490 rs10034345 Benign
3213 O43424 (GRID2) A D 654 - Disease: Spinocerebel lar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]
3214 O43424 (GRID2) A T 654 - Disease: Spinocerebel lar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]
3215 O43424 (GRID2) L V 656 - Disease: Spinocerebel lar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]
3216 O43426 (SYNJ1) R Q 219 - Disease: Parkinson disease 20, early-onset (PARK20) [MIM:615530]
3217 O43426 (SYNJ1) K R 295 rs2254562 Benign
3218 O43426 (SYNJ1) R P 420 - Disease: Parkinson disease 20, early-onset (PARK20) [MIM:615530]
3219 O43426 (SYNJ1) Y C 849 - Disease: Epileptic encephalopat hy, early infantile, 53 (EIEE53) [MIM:617389]
3220 O43426 (SYNJ1) M I 981 - Benign
3221 O43426 (SYNJ1) Y S 1018 - Benign
3222 O43426 (SYNJ1) V A 1366 rs9980589 Benign
3223 O43426 (SYNJ1) P L 1547 rs2230767 Benign
3224 O43427 (FIBP) R W 152 rs11559154 Benign
3225 O43427 (FIBP) M V 351 rs2231893 Benign
3226 O43427 (FIBP) L R 359 rs36080962 Benign
3227 O43432 (EIF4G3) Q R 378 rs35731992 Benign
3228 O43432 (EIF4G3) P A 496 rs35176330 Benign
3229 O43432 (EIF4G3) D E 1185 rs2230572 Benign
3230 O43435 (TBX1) F Y 148 rs28939675 Disease: Velocardiofa cial syndrome (VCFS) [MIM:192430]
3231 O43435 (TBX1) H Q 194 rs74315522 Disease: Velocardiofa cial syndrome (VCFS) [MIM:192430]
3232 O43435 (TBX1) G S 310 rs41298838 Disease: DiGeorge syndrome (DGS) [MIM:188400]
3233 O43435 (TBX1) T M 350 rs4819522 Benign
3234 O43451 (MGAM) Q H 404 rs2272330 Benign
3235 O43451 (MGAM) S L 542 rs10266732 Benign
3236 O43451 (MGAM) N D 858 rs2960746 Benign
3237 O43451 (MGAM) L I 1638 rs9655651 Benign
3238 O43462 (MBTPS2) M I 87 rs122468177 Disease: IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
3239 O43462 (MBTPS2) W L 226 rs122468180 Disease: IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
3240 O43462 (MBTPS2) H L 227 rs122468176 Disease: IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
3241 O43462 (MBTPS2) R H 429 rs122468178 Disease: IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
3242 O43462 (MBTPS2) N S 459 rs1555986267 Disease: Osteogenesis imperfecta 19 (OI19) [MIM:301014]
3243 O43462 (MBTPS2) F S 464 rs587777306 Disease: Olmsted syndrome, X-linked (OLMSX) [MIM:300918]
3244 O43462 (MBTPS2) F S 475 rs122468179 Disease: IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
3245 O43462 (MBTPS2) L F 505 rs1555986287 Disease: Osteogenesis imperfecta 19 (OI19) [MIM:301014]
3246 O43462 (MBTPS2) N S 508 rs587776867 Disease: Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]
3247 O43464 (HTRA2) W C 12 rs775840965 Benign
3248 O43464 (HTRA2) L P 72 rs150047108 Benign
3249 O43464 (HTRA2) P L 128 rs757704467 Benign
3250 O43464 (HTRA2) A S 141 rs72470544 Benign
3251 O43464 (HTRA2) A S 227 rs375322953 Benign
3252 O43464 (HTRA2) G S 399 rs72470545 Benign
3253 O43464 (HTRA2) R Q 404 rs767006508 Disease: 3-methylglut aconic aciduria 8 (MGCA8) [MIM:617248]
3254 O43464 (HTRA2) R W 404 rs1380794702 Disease: Parkinson disease 13 (PARK13) [MIM:610297]
3255 O43474 (KLF4) T S 315 rs1059913 Benign
3256 O43474 (KLF4) L F 321 rs1059914 Benign
3257 O43488 (AKR7A2) V M 135 rs6670759 Benign
3258 O43488 (AKR7A2) A T 142 rs1043657 Benign
3259 O43488 (AKR7A2) Q H 157 rs859208 Benign
3260 O43488 (AKR7A2) E K 180 rs859210 Benign
3261 O43488 (AKR7A2) G S 198 rs2231200 Benign
3262 O43488 (AKR7A2) C Y 214 rs2235794 Benign
3263 O43488 (AKR7A2) S N 255 rs2231203 Benign
3264 O43490 (PROM1) A G 31 - Benign
3265 O43490 (PROM1) A S 31 - Benign
3266 O43490 (PROM1) R C 373 rs137853006 Disease: Stargardt disease 4 (STGD4) [MIM:603786]
3267 O43491 (EPB41L2) Q H 17 rs2297852 Benign
3268 O43493 (TGOLN2) L V 10 rs1128140 Benign
3269 O43493 (TGOLN2) A G 86 rs1044962 Benign
3270 O43493 (TGOLN2) Q L 91 rs1044963 Benign
3271 O43493 (TGOLN2) K Q 103 rs1044964 Benign
3272 O43493 (TGOLN2) Q P 105 - Benign
3273 O43493 (TGOLN2) R W 259 rs4247303 Benign
3274 O43493 (TGOLN2) E G 322 rs1044969 Benign
3275 O43497 (CACNA1G) A T 961 rs886041505 Disease: Spinocerebel lar ataxia 42, early-onset, severe, with neurodevelop mental deficits (SCA42ND) [MIM:618087]
3276 O43497 (CACNA1G) M V 1531 rs1555558553 Disease: Spinocerebel lar ataxia 42, early-onset, severe, with neurodevelop mental deficits (SCA42ND) [MIM:618087]
3277 O43497 (CACNA1G) R H 1715 rs755221106 Disease: Spinocerebel lar ataxia 42 (SCA42) [MIM:616795]
3278 O43502 (RAD51C) G R 3 rs376403182 Benign
3279 O43502 (RAD51C) I L 52 rs730881927 Benign
3280 O43502 (RAD51C) G V 114 rs1555593767 Benign
3281 O43502 (RAD51C) G V 125 rs267606998 Disease: Breast- ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
3282 O43502 (RAD51C) A T 126 rs61758784 Benign
3283 O43502 (RAD51C) L F 138 rs267606999 Disease: Breast- ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
3284 O43502 (RAD51C) I T 144 rs28363307 Benign
3285 O43502 (RAD51C) G E 162 rs35151472 Disease: Breast- ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
3286 O43502 (RAD51C) V A 169 rs587780256 Benign
3287 O43502 (RAD51C) A T 175 rs587780838 Benign
3288 O43502 (RAD51C) Q P 178 - Disease: Breast- ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
3289 O43502 (RAD51C) R C 249 rs28363311 Benign
3290 O43502 (RAD51C) R H 258 rs267606997 Disease: Fanconi anemia complementat ion group O (FANCO) [MIM:613390]
3291 O43502 (RAD51C) L V 262 rs149331537 Benign
3292 O43502 (RAD51C) G S 264 rs147241704 Benign
3293 O43502 (RAD51C) G V 264 - Benign
3294 O43502 (RAD51C) T A 287 rs28363317 Disease: Breast- ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
3295 O43502 (RAD51C) R Q 366 rs577852020 Benign
3296 O43505 (B4GAT1) T S 253 rs35429253 Benign
3297 O43505 (B4GAT1) N D 390 rs397509397 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]
3298 O43505 (B4GAT1) A V 406 rs397509396 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]
3299 O43506 (ADAM20) F L 19 rs1059166 Benign
3300 O43511 (SLC26A4) G V 6 rs111033423 Benign
3301 O43511 (SLC26A4) R G 24 rs1268256689 Benign
3302 O43511 (SLC26A4) S R 28 rs539699299 Disease: Pendred syndrome (PDS) [MIM:274600]
3303 O43511 (SLC26A4) E Q 29 rs111033205 Disease: Pendred syndrome (PDS) [MIM:274600]
3304 O43511 (SLC26A4) Y C 78 - Disease: Pendred syndrome (PDS) [MIM:274600]
3305 O43511 (SLC26A4) S L 90 rs370588279 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3306 O43511 (SLC26A4) T M 99 rs141142414 Benign
3307 O43511 (SLC26A4) G R 102 rs1219724284 Disease: Pendred syndrome (PDS) [MIM:274600]
3308 O43511 (SLC26A4) A V 104 rs1203167658 Benign
3309 O43511 (SLC26A4) Y C 105 rs1442599990 Disease: Pendred syndrome (PDS) [MIM:274600]
3310 O43511 (SLC26A4) A D 106 - Disease: Pendred syndrome (PDS) [MIM:274600]
3311 O43511 (SLC26A4) L F 117 rs145254330 Disease: Pendred syndrome (PDS) [MIM:274600]
3312 O43511 (SLC26A4) P S 123 rs984967571 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3313 O43511 (SLC26A4) T I 132 rs1554354370 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3314 O43511 (SLC26A4) S T 133 rs121908365 Disease: Pendred syndrome (PDS) [MIM:274600]
3315 O43511 (SLC26A4) S P 137 rs1554354382 Disease: Pendred syndrome (PDS) [MIM:274600]
3316 O43511 (SLC26A4) V F 138 rs111033199 Disease: Pendred syndrome (PDS) [MIM:274600]
3317 O43511 (SLC26A4) G A 139 - Disease: Pendred syndrome (PDS) [MIM:274600]
3318 O43511 (SLC26A4) M V 147 rs760413427 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3319 O43511 (SLC26A4) T I 193 rs111033348 Disease: Pendred syndrome (PDS) [MIM:274600]
3320 O43511 (SLC26A4) G V 209 rs111033303 Disease: Pendred syndrome (PDS) [MIM:274600]
3321 O43511 (SLC26A4) A P 227 - Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3322 O43511 (SLC26A4) L P 236 rs80338848 Disease: Pendred syndrome (PDS) [MIM:274600]
3323 O43511 (SLC26A4) V D 239 rs111033256 Disease: Pendred syndrome (PDS) [MIM:274600]
3324 O43511 (SLC26A4) S P 252 rs1315422549 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3325 O43511 (SLC26A4) D H 271 - Disease: Pendred syndrome (PDS) [MIM:274600]
3326 O43511 (SLC26A4) V I 281 rs727505080 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3327 O43511 (SLC26A4) P L 301 rs34373141 Benign
3328 O43511 (SLC26A4) N Y 324 rs36039758 Benign
3329 O43511 (SLC26A4) F L 335 rs111033212 Disease: Pendred syndrome (PDS) [MIM:274600]
3330 O43511 (SLC26A4) K E 369 rs121908361 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3331 O43511 (SLC26A4) A V 372 rs121908364 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3332 O43511 (SLC26A4) S N 391 - Disease: Pendred syndrome (PDS) [MIM:274600]
3333 O43511 (SLC26A4) N Y 392 rs201562855 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3334 O43511 (SLC26A4) V M 402 rs397516414 Disease: Pendred syndrome (PDS) [MIM:274600]
3335 O43511 (SLC26A4) R H 409 rs111033305 Disease: Pendred syndrome (PDS) [MIM:274600]
3336 O43511 (SLC26A4) R P 409 rs111033305 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3337 O43511 (SLC26A4) T M 410 rs111033220 Disease: Pendred syndrome (PDS) [MIM:274600]
3338 O43511 (SLC26A4) A P 411 rs1293971731 Disease: Pendred syndrome (PDS) [MIM:274600]
3339 O43511 (SLC26A4) T P 416 rs28939086 Disease: Pendred syndrome (PDS) [MIM:274600]
3340 O43511 (SLC26A4) Q R 421 rs201660407 Benign
3341 O43511 (SLC26A4) Q R 446 rs768471577 Disease: Pendred syndrome (PDS) [MIM:274600]
3342 O43511 (SLC26A4) I F 455 rs375576481 Benign
3343 O43511 (SLC26A4) N K 457 rs1554359670 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3344 O43511 (SLC26A4) V D 480 - Disease: Pendred syndrome (PDS) [MIM:274600]
3345 O43511 (SLC26A4) I L 490 rs200511789 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3346 O43511 (SLC26A4) G S 497 rs111033308 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3347 O43511 (SLC26A4) T N 508 - Disease: Pendred syndrome (PDS) [MIM:274600]
3348 O43511 (SLC26A4) Q R 514 rs111033316 Disease: Pendred syndrome (PDS) [MIM:274600]
3349 O43511 (SLC26A4) Y H 530 rs111033254 Disease: Pendred syndrome (PDS) [MIM:274600]
3350 O43511 (SLC26A4) Y S 530 rs747636919 Disease: Pendred syndrome (PDS) [MIM:274600]
3351 O43511 (SLC26A4) S I 552 - Disease: Pendred syndrome (PDS) [MIM:274600]
3352 O43511 (SLC26A4) Y C 556 rs763006761 Disease: Pendred syndrome (PDS) [MIM:274600]
3353 O43511 (SLC26A4) Y H 556 - Disease: Pendred syndrome (PDS) [MIM:274600]
3354 O43511 (SLC26A4) N K 558 - Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3355 O43511 (SLC26A4) C Y 565 rs111033257 Disease: Pendred syndrome (PDS) [MIM:274600]
3356 O43511 (SLC26A4) V G 609 rs17154335 Benign
3357 O43511 (SLC26A4) V A 653 rs1554361015 Disease: Pendred syndrome (PDS) [MIM:274600]
3358 O43511 (SLC26A4) S F 666 - Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3359 O43511 (SLC26A4) F C 667 rs121908360 Disease: Pendred syndrome (PDS) [MIM:274600]
3360 O43511 (SLC26A4) G E 672 rs111033309 Disease: Pendred syndrome (PDS) [MIM:274600]
3361 O43511 (SLC26A4) L Q 676 rs111033318 Disease: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
3362 O43511 (SLC26A4) F S 683 rs1060499808 Benign
3363 O43511 (SLC26A4) D Y 687 rs35548413 Benign
3364 O43511 (SLC26A4) S P 694 rs981410021 Disease: Pendred syndrome (PDS) [MIM:274600]
3365 O43511 (SLC26A4) T M 721 rs121908363 Disease: Pendred syndrome (PDS) [MIM:274600]
3366 O43511 (SLC26A4) H R 723 rs121908362 Disease: Pendred syndrome (PDS) [MIM:274600]
3367 O43511 (SLC26A4) D N 724 rs994170964 Disease: Pendred syndrome (PDS) [MIM:274600]
3368 O43511 (SLC26A4) G S 740 rs17154353 Benign
3369 O43511 (SLC26A4) M T 775 - Disease: Pendred syndrome (PDS) [MIM:274600]
3370 O43516 (WIPF1) P L 198 rs4972450 Benign
3371 O43516 (WIPF1) A G 495 - Benign
3372 O43520 (ATP8B1) N T 45 rs146599962 Disease: Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]
3373 O43520 (ATP8B1) H Q 78 rs3745079 Benign
3374 O43520 (ATP8B1) L P 127 - Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3375 O43520 (ATP8B1) P T 209 rs515726138 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3376 O43520 (ATP8B1) L S 288 rs121909099 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3377 O43520 (ATP8B1) F I 305 rs150860808 Benign
3378 O43520 (ATP8B1) G D 308 rs111033609 Disease: Cholestasis, benign recurrent intrahepatic , 1 (BRIC1) [MIM:243300]
3379 O43520 (ATP8B1) G V 308 rs111033609 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3380 O43520 (ATP8B1) I F 344 rs140665115 Disease: Cholestasis, benign recurrent intrahepatic , 1 (BRIC1) [MIM:243300]
3381 O43520 (ATP8B1) R H 384 rs2271260 Benign
3382 O43520 (ATP8B1) I V 393 rs34315917 Benign
3383 O43520 (ATP8B1) S Y 403 - Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3384 O43520 (ATP8B1) R P 412 - Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3385 O43520 (ATP8B1) E A 429 rs34018205 Benign
3386 O43520 (ATP8B1) S Y 453 - Disease: Cholestasis, benign recurrent intrahepatic , 1 (BRIC1) [MIM:243300]
3387 O43520 (ATP8B1) D G 454 - Disease: Cholestasis, benign recurrent intrahepatic , 1 (BRIC1) [MIM:243300]
3388 O43520 (ATP8B1) T M 456 rs121909104 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3389 O43520 (ATP8B1) Y H 500 rs147642236 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3390 O43520 (ATP8B1) H L 535 - Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3391 O43520 (ATP8B1) D N 554 rs121909101 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3392 O43520 (ATP8B1) I V 577 rs3745078 Benign
3393 O43520 (ATP8B1) S N 580 rs33963153 Benign
3394 O43520 (ATP8B1) R Q 600 rs1202682161 Disease: Cholestasis, benign recurrent intrahepatic , 1 (BRIC1) [MIM:243300]
3395 O43520 (ATP8B1) R W 600 rs780186596 Disease: Cholestasis, benign recurrent intrahepatic , 1 (BRIC1) [MIM:243300]
3396 O43520 (ATP8B1) R W 628 rs752045131 Disease: Cholestasis, benign recurrent intrahepatic , 1 (BRIC1) [MIM:243300]
3397 O43520 (ATP8B1) I T 661 rs121909100 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3398 O43520 (ATP8B1) M T 674 rs35470719 Benign
3399 O43520 (ATP8B1) D G 688 rs1337978497 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3400 O43520 (ATP8B1) I T 694 rs541474497 Disease: Cholestasis, benign recurrent intrahepatic , 1 (BRIC1) [MIM:243300]
3401 O43520 (ATP8B1) G R 733 rs1350369369 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3402 O43520 (ATP8B1) K N 814 rs34018300 Benign
3403 O43520 (ATP8B1) F S 853 rs773092889 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3404 O43520 (ATP8B1) R C 867 rs121909103 Disease: Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]
3405 O43520 (ATP8B1) G R 892 rs121909098 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3406 O43520 (ATP8B1) R Q 952 rs12968116 Benign
3407 O43520 (ATP8B1) S I 1012 - Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3408 O43520 (ATP8B1) G R 1040 rs1438249656 Disease: Cholestasis, progressive familial intrahepatic , 1 (PFIC1) [MIM:211600]
3409 O43520 (ATP8B1) A T 1152 rs222581 Benign
3410 O43525 (KCNQ3) D G 305 rs118192248 Disease: Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201]
3411 O43525 (KCNQ3) W R 309 rs118192249 Disease: Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201]
3412 O43525 (KCNQ3) G V 310 rs118192250 Disease: Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201]
3413 O43525 (KCNQ3) E G 414 rs2303995 Benign
3414 O43525 (KCNQ3) N S 468 rs118192252 Benign
3415 O43526 (KCNQ2) T A 114 rs1057516076 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3416 O43526 (KCNQ2) Y D 154 rs1057516078 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3417 O43526 (KCNQ2) G E 159 rs1057516081 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3418 O43526 (KCNQ2) G R 159 rs1057516080 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3419 O43526 (KCNQ2) A V 196 rs118192199 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3420 O43526 (KCNQ2) R C 201 rs796052623 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3421 O43526 (KCNQ2) R Q 207 rs118192200 Benign
3422 O43526 (KCNQ2) R W 207 rs74315391 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3423 O43526 (KCNQ2) M V 208 rs118192201 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3424 O43526 (KCNQ2) R C 210 rs796052626 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3425 O43526 (KCNQ2) R Q 213 rs397514581 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3426 O43526 (KCNQ2) R W 214 rs28939684 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3427 O43526 (KCNQ2) T A 217 rs1057516089 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3428 O43526 (KCNQ2) H Q 228 rs118192204 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3429 O43526 (KCNQ2) T P 234 rs1057516091 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3430 O43526 (KCNQ2) L F 243 rs118192205 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3431 O43526 (KCNQ2) S W 247 rs74315392 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3432 O43526 (KCNQ2) D E 266 rs1057519536 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3433 O43526 (KCNQ2) L F 268 rs1057516094 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3434 O43526 (KCNQ2) T I 276 rs1057516095 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3435 O43526 (KCNQ2) Y C 284 rs28939683 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3436 O43526 (KCNQ2) R S 291 rs1057519535 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3437 O43526 (KCNQ2) A V 294 rs118192211 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3438 O43526 (KCNQ2) G S 301 rs1057516099 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3439 O43526 (KCNQ2) A T 306 rs74315390 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3440 O43526 (KCNQ2) R Q 333 rs118192216 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3441 O43526 (KCNQ2) R G 353 rs118192218 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3442 O43526 (KCNQ2) S F 358 rs1057516110 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3443 O43526 (KCNQ2) R W 547 rs796052650 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3444 O43526 (KCNQ2) K N 554 rs267607198 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3445 O43526 (KCNQ2) P S 561 - Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3446 O43526 (KCNQ2) M V 578 rs1057516123 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3447 O43526 (KCNQ2) R Q 581 rs118192235 Disease: Epileptic encephalopat hy, early infantile, 7 (EIEE7) [MIM:613720]
3448 O43526 (KCNQ2) R S 588 rs118192237 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3449 O43526 (KCNQ2) L R 637 rs118192240 Disease: Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
3450 O43526 (KCNQ2) N T 780 rs1801475 Benign
3451 O43529 (CHST10) V L 20 rs35177621 Benign
3452 O43529 (CHST10) D N 258 rs3748932 Benign
3453 O43541 (SMAD6) E K 287 rs570279865 Disease: Craniosynost osis 7 (CRS7) [MIM:617439]
3454 O43541 (SMAD6) T A 306 - Disease: Craniosynost osis 7 (CRS7) [MIM:617439]
3455 O43541 (SMAD6) P L 323 rs1374099442 Disease: Craniosynost osis 7 (CRS7) [MIM:617439]
3456 O43541 (SMAD6) A T 325 rs199822239 Benign
3457 O43541 (SMAD6) G C 390 - Disease: Craniosynost osis 7 (CRS7) [MIM:617439]
3458 O43541 (SMAD6) P L 415 rs387907284 Disease: Aortic valve disease 2 (AOVD2) [MIM:614823]
3459 O43541 (SMAD6) R C 465 rs761888345 Disease: Craniosynost osis 7 (CRS7) [MIM:617439]
3460 O43541 (SMAD6) C F 484 rs387907283 Disease: Aortic valve disease 2 (AOVD2) [MIM:614823]
3461 O43541 (SMAD6) I T 490 rs1338294058 Disease: Craniosynost osis 7 (CRS7) [MIM:617439]
3462 O43542 (XRCC3) R H 94 rs3212057 Benign
3463 O43542 (XRCC3) T M 241 rs861539 Disease: Melanoma, cutaneous malignant 6 (CMM6) [MIM:613972]
3464 O43542 (XRCC3) G R 271 rs28903080 Benign
3465 O43542 (XRCC3) R H 302 rs28903081 Benign
3466 O43543 (XRCC2) A S 16 rs4987090 Benign
3467 O43543 (XRCC2) H R 47 rs587780126 Benign
3468 O43543 (XRCC2) L I 61 rs569810249 Benign
3469 O43543 (XRCC2) E Q 75 rs1327414828 Benign
3470 O43543 (XRCC2) I V 95 rs140214637 Benign
3471 O43543 (XRCC2) V A 118 rs185815454 Benign
3472 O43543 (XRCC2) E Q 164 rs1215678098 Benign
3473 O43543 (XRCC2) E A 170 rs778143946 Benign
3474 O43543 (XRCC2) R C 188 rs139219364 Benign
3475 O43543 (XRCC2) R H 188 rs3218536 Benign
3476 O43543 (XRCC2) T M 194 rs775565256 Benign
3477 O43543 (XRCC2) M L 199 - Benign
3478 O43543 (XRCC2) E G 207 rs61762969 Benign
3479 O43543 (XRCC2) D V 220 rs765021741 Benign
3480 O43543 (XRCC2) I T 221 rs3218537 Benign
3481 O43543 (XRCC2) W C 231 rs1267462913 Benign
3482 O43543 (XRCC2) R S 238 rs534746330 Benign
3483 O43543 (XRCC2) Q E 248 rs190900560 Benign
3484 O43543 (XRCC2) R C 258 rs759300252 Benign
3485 O43543 (XRCC2) F V 270 rs145085742 Benign
3486 O43548 (TGM5) P S 67 rs757598618 Benign
3487 O43548 (TGM5) T M 109 rs113463533 Benign
3488 O43548 (TGM5) G C 113 rs112292549 Disease: Peeling skin syndrome 2 (PSS2) [MIM:609796]
3489 O43548 (TGM5) A G 352 rs28756768 Benign
3490 O43548 (TGM5) V M 504 rs7171797 Benign
3491 O43548 (TGM5) Q R 521 rs35985214 Benign
3492 O43555 (GNRH2) A V 16 rs6051545 Benign
3493 O43556 (SGCE) T R 36 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3494 O43556 (SGCE) N S 49 rs11548284 Benign
3495 O43556 (SGCE) H P 60 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3496 O43556 (SGCE) H R 60 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3497 O43556 (SGCE) M T 92 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3498 O43556 (SGCE) W G 100 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3499 O43556 (SGCE) G R 112 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3500 O43556 (SGCE) Y C 115 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3501 O43556 (SGCE) L S 175 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3502 O43556 (SGCE) S C 177 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3503 O43556 (SGCE) L P 184 rs1064794321 Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3504 O43556 (SGCE) L R 196 rs121908491 Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3505 O43556 (SGCE) W R 270 - Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3506 O43556 (SGCE) C Y 271 rs372686312 Disease: Dystonia 11, myoclonic (DYT11) [MIM:159900]
3507 O43556 (SGCE) P H 399 rs17851923 Benign
3508 O43557 (TNFSF14) S L 32 rs2291667 Benign
3509 O43557 (TNFSF14) L V 120 rs17851606 Benign
3510 O43557 (TNFSF14) K E 214 rs344560 Benign
3511 O43559 (FRS3) P L 221 rs3747747 Benign
3512 O43567 (RNF13) L S 311 - Disease: Epileptic encephalopat hy, early infantile, 73 (EIEE73) [MIM:618379]
3513 O43567 (RNF13) L P 312 - Disease: Epileptic encephalopat hy, early infantile, 73 (EIEE73) [MIM:618379]
3514 O43570 (CA12) H Q 121 rs775067652 Disease: Hyperchlorhi drosis, isolated (HYCHL) [MIM:143860]
3515 O43570 (CA12) E K 143 rs267606694 Disease: Hyperchlorhi drosis, isolated (HYCHL) [MIM:143860]
3516 O43572 (AKAP10) R H 249 rs2108978 Benign
3517 O43572 (AKAP10) I V 646 rs203462 Benign
3518 O43581 (SYT7) I N 332 rs407740 Benign
3519 O43586 (PSTPIP1) Q H 48 rs1141038 Benign
3520 O43586 (PSTPIP1) E K 106 rs1141039 Benign
3521 O43586 (PSTPIP1) Q H 146 rs1141041 Benign
3522 O43586 (PSTPIP1) R L 149 rs1141042 Benign
3523 O43586 (PSTPIP1) A S 151 rs1141043 Benign
3524 O43586 (PSTPIP1) E D 155 rs1141044 Benign
3525 O43586 (PSTPIP1) Q H 156 rs1141045 Benign
3526 O43586 (PSTPIP1) A T 230 rs121908130 Disease: PAPA syndrome (PAPAS) [MIM:604416]
3527 O43586 (PSTPIP1) E K 250 rs28939089 Disease: PAPA syndrome (PAPAS) [MIM:604416]
3528 O43586 (PSTPIP1) E Q 250 rs28939089 Disease: PAPA syndrome (PAPAS) [MIM:604416]
3529 O43592 (XPOT) A V 526 rs17851795 Benign
3530 O43592 (XPOT) E D 716 rs1051396 Benign
3531 O43593 (HR) G D 337 rs12675375 Benign
3532 O43593 (HR) L P 526 rs56140348 Benign
3533 O43593 (HR) R Q 620 rs117197822 Benign
3534 O43593 (HR) P L 924 rs11990421 Benign
3535 O43593 (HR) D N 1012 rs121434451 Disease: Alopecia universalis congenita (ALUNC) [MIM:203655]
3536 O43593 (HR) T A 1022 rs7014851 Disease: Alopecia universalis congenita (ALUNC) [MIM:203655]
3537 O43593 (HR) V D 1136 rs121434448 Disease: Alopecia universalis congenita (ALUNC) [MIM:203655]
3538 O43597 (SPRY2) P S 106 rs504122 Benign
3539 O43597 (SPRY2) R W 119 rs869025336 Disease: IgA nephropathy 3 (IGAN3) [MIM:616818]
3540 O43602 (DCX) T I 42 - Disease: Lissencephal y, X-linked 1 (LISX1) [MIM:300067]
3541 O43602 (DCX) L S 43 rs587783521 Disease: Lissencephal y, X-linked 1 (LISX1) [MIM:300067]
3542 O43602 (DCX) S R 47 rs104894783 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3543 O43602 (DCX) K N 50 rs587783523 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3544 O43602 (DCX) R H 59 rs122457137 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3545 O43602 (DCX) R L 59 rs122457137 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3546 O43602 (DCX) N D 60 - Disease: Lissencephal y, X-linked 1 (LISX1) [MIM:300067]
3547 O43602 (DCX) D N 62 rs104894779 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3548 O43602 (DCX) G E 67 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3549 O43602 (DCX) A S 71 rs104894786 Disease: Lissencephal y, X-linked 1 (LISX1) [MIM:300067]
3550 O43602 (DCX) R H 78 rs104894784 Benign
3551 O43602 (DCX) R L 78 rs104894784 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3552 O43602 (DCX) D H 86 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3553 O43602 (DCX) R G 89 rs104894785 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3554 O43602 (DCX) L R 97 rs587783537 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3555 O43602 (DCX) G A 100 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3556 O43602 (DCX) R S 102 - Disease: Lissencephal y, X-linked 1 (LISX1) [MIM:300067]
3557 O43602 (DCX) I T 104 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3558 O43602 (DCX) Y D 125 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3559 O43602 (DCX) Y H 125 rs104894781 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3560 O43602 (DCX) R C 178 rs587783558 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3561 O43602 (DCX) R L 178 rs587783559 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3562 O43602 (DCX) R C 186 rs587783562 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3563 O43602 (DCX) P L 191 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3564 O43602 (DCX) P R 191 rs587783566 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3565 O43602 (DCX) R W 192 rs104894780 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3566 O43602 (DCX) R S 196 rs587783568 Benign
3567 O43602 (DCX) R H 196 rs56030372 Disease: Lissencephal y, X-linked 1 (LISX1) [MIM:300067]
3568 O43602 (DCX) N I 200 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3569 O43602 (DCX) N K 200 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3570 O43602 (DCX) T A 203 rs587783570 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3571 O43602 (DCX) T R 203 rs104894782 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3572 O43602 (DCX) I T 214 rs587783574 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3573 O43602 (DCX) T I 222 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3574 O43602 (DCX) G E 223 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3575 O43602 (DCX) G V 223 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3576 O43602 (DCX) V I 236 rs1324159050 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3577 O43602 (DCX) F L 243 - Disease: Lissencephal y, X-linked 1 (LISX1) [MIM:300067]
3578 O43602 (DCX) I N 250 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3579 O43602 (DCX) I T 250 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3580 O43602 (DCX) A S 251 rs587783585 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3581 O43602 (DCX) A V 251 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3582 O43602 (DCX) G D 253 - Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3583 O43602 (DCX) D G 262 rs398124557 Disease: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
3584 O43610 (SPRY3) A T 161 rs35474915 Benign
3585 O43612 (HCRT) L R 16 rs104894574 Disease: Narcolepsy 1 (NRCLP1) [MIM:161400]
3586 O43613 (HCRTR1) G S 167 rs144603792 Benign
3587 O43613 (HCRTR1) R Q 279 rs7516785 Benign
3588 O43613 (HCRTR1) R H 281 rs41439244 Benign
3589 O43613 (HCRTR1) I V 408 rs2271933 Benign
3590 O43614 (HCRTR2) P S 10 rs41271310 Benign
3591 O43614 (HCRTR2) P T 11 rs41271312 Benign
3592 O43614 (HCRTR2) I V 293 rs74720027 Benign
3593 O43614 (HCRTR2) I V 308 rs2653349 Benign
3594 O43623 (SNAI2) P T 31 rs11544360 Benign
3595 O43623 (SNAI2) D E 119 rs748917911 Benign
3596 O43623 (SNAI2) T I 234 rs13280993 Benign
3597 O43638 (FOXS1) P A 292 rs2296917 Benign
3598 O43653 (PSCA) E K 30 rs3736001 Benign
3599 O43657 (TSPAN6) A T 108 rs1802288 Benign
3600 O43663 (PRC1) A E 187 rs7172758 Benign
3601 O43663 (PRC1) Y C 511 rs12911192 Benign
3602 O43665 (RGS10) A V 102 rs1802228 Benign
3603 O43670 (ZNF207) A S 224 rs3795244 Benign
3604 O43674 (NDUFB5) Y H 133 rs4147793 Benign
3605 O43676 (NDUFB3) W R 22 rs142609245 Disease: Mitochondria l complex I deficiency, nuclear type 25 (MC1DN25) [MIM:618246]
3606 O43681 (GET3) N S 332 rs8177499 Benign
3607 O43683 (BUB1) G D 20 rs35890336 Benign
3608 O43683 (BUB1) N D 534 rs36109304 Benign
3609 O43688 (PLPP2) A V 180 rs1138439 Benign
3610 O43699 (SIGLEC6) L V 57 rs2305773 Benign
3611 O43699 (SIGLEC6) L F 262 rs2005199 Benign
3612 O43707 (ACTN4) W R 59 - Disease: Focal segmental glomeruloscl erosis 1 (FSGS1) [MIM:603278]
3613 O43707 (ACTN4) E Q 72 - Disease: Focal segmental glomeruloscl erosis 1 (FSGS1) [MIM:603278]
3614 O43707 (ACTN4) K E 255 rs121908415 Disease: Focal segmental glomeruloscl erosis 1 (FSGS1) [MIM:603278]
3615 O43707 (ACTN4) T I 259 rs121908416 Disease: Focal segmental glomeruloscl erosis 1 (FSGS1) [MIM:603278]
3616 O43707 (ACTN4) S F 262 - Disease: Focal segmental glomeruloscl erosis 1 (FSGS1) [MIM:603278]
3617 O43707 (ACTN4) S P 262 rs121908417 Disease: Focal segmental glomeruloscl erosis 1 (FSGS1) [MIM:603278]
3618 O43707 (ACTN4) A T 427 rs201128110 Disease: Focal segmental glomeruloscl erosis 1 (FSGS1) [MIM:603278]
3619 O43707 (ACTN4) N D 748 - Disease: Focal segmental glomeruloscl erosis 1 (FSGS1) [MIM:603278]
3620 O43707 (ACTN4) G R 786 - Benign
3621 O43707 (ACTN4) P L 787 - Benign
3622 O43707 (ACTN4) P S 787 - Benign
3623 O43707 (ACTN4) V M 801 rs141727248 Benign
3624 O43708 (GSTZ1) K E 32 rs7975 Benign
3625 O43708 (GSTZ1) R G 42 rs7972 Benign
3626 O43708 (GSTZ1) M T 82 rs1046428 Benign
3627 O43708 (GSTZ1) V M 99 - Disease: Maleylacetoa cetate isomerase deficiency (MAAID) [MIM:617596]
3628 O43708 (GSTZ1) N H 133 rs2234955 Benign
3629 O43708 (GSTZ1) A V 150 - Disease: Maleylacetoa cetate isomerase deficiency (MAAID) [MIM:617596]
3630 O43716 (GATC) S L 3 rs17431446 Benign
3631 O43719 (HTATSF1) G A 478 rs2071913 Benign
3632 O43719 (HTATSF1) N T 526 rs12852634 Benign
3633 O43719 (HTATSF1) D G 678 rs17339410 Benign
3634 O43731 (KDELR3) V G 199 rs12004 Benign
3635 O43734 (TRAF3IP2) D N 19 rs33980500 Disease: Psoriasis 13 (PSORS13) [MIM:614070]
3636 O43734 (TRAF3IP2) R W 83 rs13190932 Benign
3637 O43734 (TRAF3IP2) H Q 332 rs1043730 Benign
3638 O43734 (TRAF3IP2) T I 536 rs397518485 Disease: Candidiasis, familial, 8 (CANDF8) [MIM:615527]
3639 O43736 (ITM2A) A V 72 rs35056863 Benign
3640 O43736 (ITM2A) R T 230 rs35629312 Benign
3641 O43745 (CHP2) R P 127 rs35641939 Benign
3642 O43747 (AP1G1) V G 195 rs36037071 Benign
3643 O43747 (AP1G1) P H 685 rs904763 Benign
3644 O43749 (OR1F1) F S 75 rs1834026 Benign
3645 O43749 (OR1F1) V M 126 rs8045183 Benign
3646 O43766 (LIAS) R H 249 rs144133667 Disease: Hyperglycine mia, lactic acidosis, and seizures (HGCLAS) [MIM:614462]
3647 O43772 (SLC25A20) R W 133 rs748394731 Disease: Carnitine-ac ylcarnitine translocase deficiency (CACTD) [MIM:212138]
3648 O43772 (SLC25A20) D H 231 rs577331691 Disease: Carnitine-ac ylcarnitine translocase deficiency (CACTD) [MIM:212138]
3649 O43772 (SLC25A20) Q R 238 rs28934589 Disease: Carnitine-ac ylcarnitine translocase deficiency (CACTD) [MIM:212138]
3650 O43781 (DYRK3) M L 239 - Benign
3651 O43790 (KRT86) N D 114 rs61091894 Disease: Monilethrix (MNLIX) [MIM:158000]
3652 O43790 (KRT86) N H 114 rs61091894 Disease: Monilethrix (MNLIX) [MIM:158000]
3653 O43790 (KRT86) E K 402 rs60687604 Disease: Monilethrix (MNLIX) [MIM:158000]
3654 O43790 (KRT86) E Q 402 rs60687604 Disease: Monilethrix (MNLIX) [MIM:158000]
3655 O43790 (KRT86) L P 409 - Disease: Monilethrix (MNLIX) [MIM:158000]
3656 O43790 (KRT86) L P 410 - Disease: Monilethrix (MNLIX) [MIM:158000]
3657 O43790 (KRT86) E D 413 rs121909130 Disease: Monilethrix (MNLIX) [MIM:158000]
3658 O43790 (KRT86) E K 413 rs121909129 Disease: Monilethrix (MNLIX) [MIM:158000]
3659 O43808 (SLC25A17) H R 98 rs12159334 Benign
3660 O43819 (SCO2) R P 20 rs140523 Benign
3661 O43819 (SCO2) R H 114 rs145100473 Disease: Myopia 6 (MYP6) [MIM:608908]
3662 O43819 (SCO2) C Y 133 rs28937868 Disease: Cardioenceph alomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377]
3663 O43819 (SCO2) E K 140 rs74315511 Disease: Myopia 6 (MYP6) [MIM:608908]
3664 O43819 (SCO2) R W 171 rs28937598 Disease: Cardioenceph alomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377]
3665 O43819 (SCO2) G S 193 rs759452074 Disease: Leigh syndrome (LS) [MIM:256000]
3666 O43819 (SCO2) S F 225 rs80358232 Disease: Cardioenceph alomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377]
3667 O43819 (SCO2) M T 258 rs1352878283 Disease: Leigh syndrome (LS) [MIM:256000]
3668 O43819 (SCO2) A V 259 rs8139305 Disease: Myopia 6 (MYP6) [MIM:608908]
3669 O43820 (HYAL3) H Y 113 rs13100173 Benign
3670 O43822 (CFAP410) C Y 61 rs1057518441 Disease: Retinal dystrophy with or without macular staphyloma (RDMS) [MIM:617547]
3671 O43822 (CFAP410) R P 73 rs140451304 Disease: Spondylometa physeal dysplasia, axial (SMDAX) [MIM:602271]
3672 O43822 (CFAP410) Y C 107 rs1131690801 Disease: Retinal dystrophy with or without macular staphyloma (RDMS) [MIM:617547]
3673 O43822 (CFAP410) Y H 107 rs763623409 Disease: Spondylometa physeal dysplasia, axial (SMDAX) [MIM:602271]
3674 O43822 (CFAP410) V M 111 rs555164150 Disease: Spondylometa physeal dysplasia, axial (SMDAX) [MIM:602271]
3675 O43822 (CFAP410) P L 116 rs922930539 Disease: Spondylometa physeal dysplasia, axial (SMDAX) [MIM:602271]
3676 O43822 (CFAP410) T I 150 rs2277809 Benign
3677 O43822 (CFAP410) G S 153 rs9306099 Benign
3678 O43822 (CFAP410) L P 224 rs1114167892 Disease: Spondylometa physeal dysplasia, axial (SMDAX) [MIM:602271]
3679 O43826 (SLC37A4) G D 20 rs193302881 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3680 O43826 (SLC37A4) Y H 24 rs193302887 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3681 O43826 (SLC37A4) N K 27 rs193302889 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3682 O43826 (SLC37A4) R C 28 rs193302882 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3683 O43826 (SLC37A4) R H 28 rs121908978 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3684 O43826 (SLC37A4) G E 50 rs193302877 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3685 O43826 (SLC37A4) G R 50 rs193302894 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3686 O43826 (SLC37A4) S R 54 rs193302898 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3687 O43826 (SLC37A4) S R 55 rs193302884 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3688 O43826 (SLC37A4) G R 68 rs193302885 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3689 O43826 (SLC37A4) L P 85 rs193302899 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3690 O43826 (SLC37A4) G D 88 rs193302886 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3691 O43826 (SLC37A4) W R 118 rs80356489 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3692 O43826 (SLC37A4) Q P 133 rs193302896 Disease: Glycogen storage disease 1C (GSD1C) [MIM:232240]
3693 O43826 (SLC37A4) A V 148 rs193302879 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3694 O43826 (SLC37A4) G E 149 rs193302892 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3695 O43826 (SLC37A4) G R 150 rs193302883 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3696 O43826 (SLC37A4) P L 153 rs193302890 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3697 O43826 (SLC37A4) C R 176 rs193302895 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3698 O43826 (SLC37A4) C R 183 rs193302893 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3699 O43826 (SLC37A4) P L 191 rs193302888 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3700 O43826 (SLC37A4) N I 198 rs34203644 Benign
3701 O43826 (SLC37A4) L P 229 rs193302902 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3702 O43826 (SLC37A4) W R 246 rs193302878 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3703 O43826 (SLC37A4) I N 278 rs193302900 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3704 O43826 (SLC37A4) R C 300 rs193302880 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3705 O43826 (SLC37A4) R H 300 rs193302903 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3706 O43826 (SLC37A4) H P 301 rs193302891 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3707 O43826 (SLC37A4) G C 339 rs80356490 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3708 O43826 (SLC37A4) G D 339 rs121908980 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3709 O43826 (SLC37A4) A T 367 rs80356492 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3710 O43826 (SLC37A4) A D 373 rs193302901 Disease: Glycogen storage disease 1B (GSD1B) [MIM:232220]
3711 O43826 (SLC37A4) G S 376 rs193302897 Disease: Glycogen storage disease 1C (GSD1C) [MIM:232240]
3712 O43827 (ANGPTL7) E D 51 rs28990992 Benign
3713 O43827 (ANGPTL7) R H 140 rs28991002 Benign
3714 O43827 (ANGPTL7) Q H 175 rs28991009 Benign
3715 O43829 (ZBTB14) E G 77 rs7235740 Benign
3716 O43829 (ZBTB14) Q R 139 rs7235420 Benign
3717 O43837 (IDH3B) A V 3 rs3178817 Benign
3718 O43837 (IDH3B) L P 132 rs137853020 Disease: Retinitis pigmentosa 46 (RP46) [MIM:612572]
3719 O43837 (IDH3B) Q H 166 rs11542741 Benign
3720 O43837 (IDH3B) T A 360 rs8296 Benign
3721 O43847 (NRDC) Y S 832 rs34957144 Benign
3722 O43852 (CALU) R Q 4 rs2290228 Benign
3723 O43861 (ATP9B) S G 39 rs4078115 Benign
3724 O43861 (ATP9B) R Q 108 rs34938281 Benign
3725 O43861 (ATP9B) D N 504 rs36034863 Benign
3726 O43861 (ATP9B) M L 732 rs585033 Benign
3727 O43866 (CD5L) D E 117 rs11537583 Benign
3728 O43868 (SLC28A2) L P 12 rs567096708 Benign
3729 O43868 (SLC28A2) P L 22 rs11854484 Benign
3730 O43868 (SLC28A2) S R 75 rs1060896 Benign
3731 O43868 (SLC28A2) R H 142 rs115740452 Benign
3732 O43868 (SLC28A2) L W 163 rs2271437 Benign
3733 O43868 (SLC28A2) E D 172 rs113624548 Benign
3734 O43868 (SLC28A2) S T 245 rs10519020 Benign
3735 O43868 (SLC28A2) F S 355 rs17215633 Benign
3736 O43868 (SLC28A2) E K 385 rs376327143 Benign
3737 O43868 (SLC28A2) L F 462 rs17222057 Benign
3738 O43868 (SLC28A2) G E 509 rs9635306 Benign
3739 O43868 (SLC28A2) M T 612 rs373539209 Benign
3740 O43869 (OR2T1) H R 25 rs28599722 Benign
3741 O43895 (XPNPEP2) T I 215 rs138365897 Benign
3742 O43895 (XPNPEP2) V I 223 rs61733030 Benign
3743 O43895 (XPNPEP2) K N 232 rs41311662 Benign
3744 O43896 (KIF1C) R W 169 rs587777198 Disease: Spastic ataxia 2, autosomal recessive (SPAX2) [MIM:611302]
3745 O43897 (TLL1) M L 182 rs137852951 Disease: Atrial septal defect 6 (ASD6) [MIM:613087]
3746 O43897 (TLL1) V A 238 rs137852952 Disease: Atrial septal defect 6 (ASD6) [MIM:613087]
3747 O43897 (TLL1) I V 629 rs137852953 Disease: Atrial septal defect 6 (ASD6) [MIM:613087]
3748 O43897 (TLL1) T A 958 rs2291822 Benign
3749 O43900 (PRICKLE3) R C 343 rs7065449 Benign
3750 O43908 (KLRC4) I S 29 rs1841958 Benign
3751 O43908 (KLRC4) N S 104 rs2617170 Benign
3752 O43909 (EXTL3) R W 339 rs747676107 Disease: Immunoskelet al dysplasia with neurodevelop mental abnormalitie s (ISDNA) [MIM:617425]
3753 O43909 (EXTL3) V L 442 rs116659770 Benign
3754 O43909 (EXTL3) P L 461 rs554294508 Disease: Immunoskelet al dysplasia with neurodevelop mental abnormalitie s (ISDNA) [MIM:617425]
3755 O43909 (EXTL3) R C 513 rs1332006145 Disease: Immunoskelet al dysplasia with neurodevelop mental abnormalitie s (ISDNA) [MIM:617425]
3756 O43909 (EXTL3) A V 550 rs35781576 Benign
3757 O43909 (EXTL3) N S 657 rs770842408 Disease: Immunoskelet al dysplasia with neurodevelop mental abnormalitie s (ISDNA) [MIM:617425]
3758 O43909 (EXTL3) Y D 670 - Disease: Immunoskelet al dysplasia with neurodevelop mental abnormalitie s (ISDNA) [MIM:617425]
3759 O43909 (EXTL3) L P 706 rs2269452 Benign
3760 O43913 (ORC5) G R 37 rs1056677 Benign
3761 O43913 (ORC5) K N 52 rs2307413 Benign
3762 O43913 (ORC5) R C 166 rs2307402 Benign
3763 O43914 (TYROBP) Y H 111 rs14714 Benign
3764 O43918 (AIRE) R C 15 rs179363875 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3765 O43918 (AIRE) R L 15 rs179363876 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3766 O43918 (AIRE) T M 16 rs179363877 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3767 O43918 (AIRE) A V 21 rs179363886 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3768 O43918 (AIRE) L P 28 rs179363878 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3769 O43918 (AIRE) L P 29 rs179363879 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3770 O43918 (AIRE) F S 77 rs179363887 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3771 O43918 (AIRE) W R 78 rs179363880 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3772 O43918 (AIRE) V L 80 rs179363881 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3773 O43918 (AIRE) K E 83 rs121434255 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3774 O43918 (AIRE) Y C 85 rs179363882 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3775 O43918 (AIRE) Y C 90 rs179363883 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3776 O43918 (AIRE) L R 93 rs179363884 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3777 O43918 (AIRE) G W 228 rs121434257 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3778 O43918 (AIRE) P L 252 rs34397615 Benign
3779 O43918 (AIRE) S R 278 rs1800520 Benign
3780 O43918 (AIRE) E K 298 rs763636007 Benign
3781 O43918 (AIRE) C W 299 rs751066946 Benign
3782 O43918 (AIRE) V M 301 rs150634562 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3783 O43918 (AIRE) R Q 303 rs139808903 Benign
3784 O43918 (AIRE) R W 303 rs778929451 Benign
3785 O43918 (AIRE) G R 306 rs754932526 Benign
3786 O43918 (AIRE) I M 309 rs74162062 Benign
3787 O43918 (AIRE) C Y 311 rs386833674 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3788 O43918 (AIRE) R Q 316 rs202027254 Benign
3789 O43918 (AIRE) H P 319 rs776951380 Benign
3790 O43918 (AIRE) P L 326 rs179363885 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3791 O43918 (AIRE) P Q 326 rs179363885 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3792 O43918 (AIRE) R Q 328 rs775921321 Benign
3793 O43918 (AIRE) R W 328 rs74162063 Benign
3794 O43918 (AIRE) S R 332 rs766901260 Benign
3795 O43918 (AIRE) P L 539 rs179363889 Disease: Autoimmune polyendocrin e syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
3796 O43929 (ORC4) L V 56 rs2307397 Benign
3797 O43929 (ORC4) N S 78 rs2307394 Benign
3798 O43929 (ORC4) Y C 174 rs387906847 Disease: Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800]
3799 O43933 (PEX1) R P 581 rs370483961 Disease: Heimler syndrome 1 (HMLR1) [MIM:234580]
3800 O43933 (PEX1) L R 590 - Disease: Peroxisome biogenesis disorder complementat ion group 1 (PBD-CG1) [MIM:214100]
3801 O43933 (PEX1) G R 593 rs61750407 Disease: Peroxisome biogenesis disorder complementat ion group 1 (PBD-CG1) [MIM:214100]
3802 O43933 (PEX1) I R 640 rs4559173 Benign
3803 O43933 (PEX1) L P 664 rs121434455 Disease: Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
3804 O43933 (PEX1) I M 696 rs35996821 Benign
3805 O43933 (PEX1) L W 705 rs863225084 Disease: Heimler syndrome 1 (HMLR1) [MIM:234580]
3806 O43933 (PEX1) R G 798 rs61750419 Disease: Peroxisome biogenesis disorder complementat ion group 1 (PBD-CG1) [MIM:214100]
3807 O43933 (PEX1) G D 843 rs61750420 Disease: Peroxisome biogenesis disorder complementat ion group 1 (PBD-CG1) [MIM:214100]
3808 O43933 (PEX1) R Q 948 rs535271603 Benign
3809 O43933 (PEX1) I T 989 rs61750427 Disease: Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
3810 O43933 (PEX1) R Q 998 rs61750429 Disease: Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
3811 O43933 (PEX1) A E 1237 rs1473858573 Disease: Peroxisome biogenesis disorder complementat ion group 1 (PBD-CG1) [MIM:214100]
3812 O43934 (MFSD11) S F 428 rs3198672 Benign
3813 O60216 (RAD21) P R 376 rs387907212 Disease: Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701]
3814 O60216 (RAD21) G R 481 rs755168088 Benign
3815 O60216 (RAD21) C R 585 rs387907213 Disease: Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701]
3816 O60216 (RAD21) A T 622 rs775266057 Disease: Mungan syndrome (MGS) [MIM:611376]
3817 O60218 (AKR1B10) P S 87 rs2303312 Benign
3818 O60218 (AKR1B10) M T 286 rs3735042 Benign
3819 O60218 (AKR1B10) N D 313 rs4728329 Benign
3820 O60220 (TIMM8A) C W 66 rs80356560 Disease: Mohr- Tranebjaerg syndrome (MTS) [MIM:304700]
3821 O60225 (SSX5) E Q 19 rs4824675 Benign
3822 O60229 (KALRN) S L 196 - Benign
3823 O60229 (KALRN) E D 1326 rs2289838 Benign
3824 O60229 (KALRN) R M 1930 rs35298864 Benign
3825 O60231 (DHX16) K E 352 rs17189239 Benign
3826 O60231 (DHX16) L F 502 rs17189232 Benign
3827 O60231 (DHX16) D G 566 rs9262138 Benign
3828 O60232 (ZNRD2) T M 21 rs35971725 Benign
3829 O60234 (GMFG) E K 122 rs36110047 Benign
3830 O60234 (GMFG) E K 136 rs34035414 Benign
3831 O60237 (PPP1R12B) V I 182 rs2843414 Benign
3832 O60237 (PPP1R12B) R K 836 rs3881953 Benign
3833 O60240 (PLIN1) P A 194 rs6496589 Benign
3834 O60240 (PLIN1) K E 210 rs17852910 Benign
3835 O60240 (PLIN1) A V 271 rs58361219 Benign
3836 O60240 (PLIN1) S L 348 rs8179071 Benign
3837 O60241 (ADGRB2) R W 1465 rs778361520 Disease: -
3838 O60242 (ADGRB3) N S 503 rs1932618 Benign
3839 O60243 (HS6ST1) P S 218 rs200268730 Disease: Hypogonadotr opic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
3840 O60243 (HS6ST1) R Q 306 rs201307896 Disease: Hypogonadotr opic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
3841 O60243 (HS6ST1) R W 306 rs780352591 Disease: Hypogonadotr opic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
3842 O60243 (HS6ST1) R Q 323 rs761325768 Disease: Hypogonadotr opic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
3843 O60243 (HS6ST1) R W 382 rs199538589 Disease: Hypogonadotr opic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
3844 O60243 (HS6ST1) M V 404 - Disease: Hypogonadotr opic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
3845 O60258 (FGF17) I T 108 rs398123024 Disease: Hypogonadotr opic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]
3846 O60258 (FGF17) R H 177 rs398123025 Disease: Hypogonadotr opic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]
3847 O60258 (FGF17) N S 187 rs398123026 Disease: Hypogonadotr opic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]
3848 O60259 (KLK8) V I 154 rs16988799 Benign
3849 O60260 (PRKN) V M 15 rs532703934 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3850 O60260 (PRKN) R Q 33 rs147757966 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3851 O60260 (PRKN) P L 37 rs148990138 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3852 O60260 (PRKN) R P 42 rs368134308 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3853 O60260 (PRKN) A P 46 - Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3854 O60260 (PRKN) V E 56 rs137853059 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3855 O60260 (PRKN) A E 82 rs55774500 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3856 O60260 (PRKN) A V 92 rs566229879 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3857 O60260 (PRKN) Q H 100 rs1256316516 Benign
3858 O60260 (PRKN) K N 161 rs137853057 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3859 O60260 (PRKN) S N 167 rs1801474 Benign
3860 O60260 (PRKN) K N 211 rs137853060 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3861 O60260 (PRKN) C Y 212 rs137853058 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3862 O60260 (PRKN) T M 240 rs137853054 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3863 O60260 (PRKN) T R 240 rs137853054 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3864 O60260 (PRKN) C Y 253 rs747427602 Disease: Parkinson disease (PARK) [MIM:168600]
3865 O60260 (PRKN) R C 256 rs150562946 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3866 O60260 (PRKN) R S 271 - Benign
3867 O60260 (PRKN) R W 275 rs34424986 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3868 O60260 (PRKN) D N 280 rs72480422 Disease: Parkinson disease (PARK) [MIM:168600]
3869 O60260 (PRKN) G R 284 rs751037529 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3870 O60260 (PRKN) C G 289 rs55961220 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3871 O60260 (PRKN) G E 328 - Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3872 O60260 (PRKN) R C 334 rs199657839 Benign
3873 O60260 (PRKN) A S 339 - Benign
3874 O60260 (PRKN) T P 351 - Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3875 O60260 (PRKN) R W 366 rs56092260 Benign
3876 O60260 (PRKN) V L 380 rs1801582 Benign
3877 O60260 (PRKN) D N 394 rs1801334 Benign
3878 O60260 (PRKN) R C 402 rs55830907 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3879 O60260 (PRKN) T N 415 rs778125254 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3880 O60260 (PRKN) C R 418 - Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3881 O60260 (PRKN) G D 430 rs191486604 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3882 O60260 (PRKN) C F 431 rs397514694 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3883 O60260 (PRKN) P L 437 rs149953814 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3884 O60260 (PRKN) C R 441 rs778305273 Disease: Parkinson disease 2 (PARK2) [MIM:600116]
3885 O60266 (ADCY3) N I 64 rs541941351 Benign
3886 O60266 (ADCY3) S P 107 rs11676272 Benign
3887 O60268 (KIAA0513) R H 100 rs4783121 Benign
3888 O60269 (GPRIN2) R H 5 rs3127817 Benign
3889 O60269 (GPRIN2) L V 39 rs4926045 Benign
3890 O60269 (GPRIN2) R H 40 rs3127818 Benign
3891 O60269 (GPRIN2) V M 47 rs3127819 Benign
3892 O60269 (GPRIN2) W R 91 rs3127820 Benign
3893 O60269 (GPRIN2) T P 100 rs7090312 Benign
3894 O60269 (GPRIN2) S G 104 rs3127679 Benign
3895 O60269 (GPRIN2) G W 202 rs11204658 Benign
3896 O60269 (GPRIN2) A S 233 rs11204659 Benign
3897 O60269 (GPRIN2) V M 241 rs9422022 Benign
3898 O60269 (GPRIN2) R G 242 rs3127683 Benign
3899 O60269 (GPRIN2) S C 328 rs4445576 Benign
3900 O60269 (GPRIN2) V A 375 rs3127822 Benign
3901 O60269 (GPRIN2) L P 400 rs3127823 Benign
3902 O60271 (SPAG9) N S 1320 rs9896965 Benign
3903 O60279 (SUSD5) F L 40 rs9637517 Benign
3904 O60279 (SUSD5) L F 52 rs9637517 Benign
3905 O60279 (SUSD5) R K 216 rs9872477 Benign
3906 O60279 (SUSD5) R K 228 rs9872477 Benign
3907 O60279 (SUSD5) E D 378 rs6810039 Benign
3908 O60281 (ZNF292) I V 1740 rs9362415 Benign
3909 O60281 (ZNF292) V I 2045 rs6910541 Benign
3910 O60282 (KIF5C) E K 237 rs587777570 Disease: Cortical dysplasia, complex, with other brain malformation s 2 (CDCBM2) [MIM:615282]
3911 O60282 (KIF5C) E V 237 rs587777035 Disease: Cortical dysplasia, complex, with other brain malformation s 2 (CDCBM2) [MIM:615282]
3912 O60284 (ST18) R C 515 rs2303460 Benign
3913 O60285 (NUAK1) G D 419 rs55774704 Benign
3914 O60285 (NUAK1) P R 543 rs3741883 Benign
3915 O60287 (URB1) V L 1791 rs3761342 Benign
3916 O60287 (URB1) P R 2071 rs762225 Benign
3917 O60290 (ZNF862) I T 178 rs3735328 Benign
3918 O60292 (SIPA1L3) G S 1371 rs2304133 Benign
3919 O60292 (SIPA1L3) P A 1450 rs3745945 Benign
3920 O60293 (ZFC3H1) E K 1006 rs1011332 Benign
3921 O60293 (ZFC3H1) K R 1807 rs11541286 Benign
3922 O60294 (LCMT2) V L 67 rs45552436 Benign
3923 O60294 (LCMT2) R S 141 rs3742970 Benign
3924 O60294 (LCMT2) C Y 149 rs45593931 Benign
3925 O60294 (LCMT2) T A 518 rs45530831 Benign
3926 O60296 (TRAK2) V I 142 rs13022344 Benign
3927 O60296 (TRAK2) T I 528 rs2244438 Benign
3928 O60296 (TRAK2) I N 863 rs34594680 Benign
3929 O60303 (KATNIP) T M 522 rs12930355 Benign
3930 O60303 (KATNIP) A S 535 rs11643103 Benign
3931 O60303 (KATNIP) R Q 885 rs16976970 Benign
3932 O60303 (KATNIP) A V 1240 rs55953014 Benign
3933 O60303 (KATNIP) A T 1267 rs4787984 Benign
3934 O60303 (KATNIP) R Q 1368 rs11644502 Benign
3935 O60303 (KATNIP) V I 1597 rs2287790 Benign
3936 O60307 (MAST3) R Q 203 rs35945810 Benign
3937 O60307 (MAST3) G S 861 rs8108738 Benign
3938 O60307 (MAST3) G S 883 rs369960905 Benign
3939 O60308 (CEP104) L I 414 rs2275824 Benign
3940 O60308 (CEP104) A V 686 rs2275831 Benign
3941 O60309 (LRRC37A3) K E 1215 rs9893710 Benign
3942 O60309 (LRRC37A3) G A 1590 rs28532307 Benign
3943 O60312 (ATP10A) S Y 353 rs17116056 Benign
3944 O60312 (ATP10A) R H 504 rs56724944 Benign
3945 O60312 (ATP10A) T M 532 rs2066703 Benign
3946 O60312 (ATP10A) A T 784 rs2066704 Benign
3947 O60312 (ATP10A) E K 834 rs17555920 Benign
3948 O60312 (ATP10A) W C 1172 rs2076742 Benign
3949 O60312 (ATP10A) A T 1179 rs2076744 Benign
3950 O60312 (ATP10A) I V 1188 rs2076745 Benign
3951 O60312 (ATP10A) V M 1198 rs2076746 Benign
3952 O60312 (ATP10A) R S 1298 rs3816800 Benign
3953 O60312 (ATP10A) A V 1397 rs9324127 Benign
3954 O60313 (OPA1) Y C 80 rs151103940 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3955 O60313 (OPA1) T M 95 rs201214736 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3956 O60313 (OPA1) Y C 102 rs530896300 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3957 O60313 (OPA1) S N 158 rs7624750 Benign
3958 O60313 (OPA1) P L 167 rs754177232 Benign
3959 O60313 (OPA1) A V 192 rs34307082 Benign
3960 O60313 (OPA1) E K 270 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3961 O60313 (OPA1) L P 272 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3962 O60313 (OPA1) D A 273 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3963 O60313 (OPA1) R Q 290 rs121908375 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3964 O60313 (OPA1) R W 290 rs780333963 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3965 O60313 (OPA1) G E 300 rs28939082 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3966 O60313 (OPA1) Q R 310 rs770966290 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3967 O60313 (OPA1) T S 330 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3968 O60313 (OPA1) A T 357 rs190223702 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3969 O60313 (OPA1) V I 377 rs780922750 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3970 O60313 (OPA1) I M 382 rs143319805 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3971 O60313 (OPA1) L F 384 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3972 O60313 (OPA1) L P 396 rs727504060 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3973 O60313 (OPA1) L R 396 rs727504060 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3974 O60313 (OPA1) P A 400 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3975 O60313 (OPA1) V M 402 rs879255594 Disease: Behr syndrome (BEHRS) [MIM:210000]
3976 O60313 (OPA1) N D 430 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3977 O60313 (OPA1) D V 438 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3978 O60313 (OPA1) G V 439 rs387906900 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3979 O60313 (OPA1) R H 445 rs80356529 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3980 O60313 (OPA1) T P 449 - Disease: Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
3981 O60313 (OPA1) T R 449 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3982 O60313 (OPA1) G E 459 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3983 O60313 (OPA1) K E 468 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3984 O60313 (OPA1) D G 470 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3985 O60313 (OPA1) E K 487 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3986 O60313 (OPA1) V G 502 - Benign
3987 O60313 (OPA1) T K 503 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3988 O60313 (OPA1) K N 505 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3989 O60313 (OPA1) L R 534 rs869312995 Disease: Mitochondria l DNA depletion syndrome 14, cardioenceph alomyopathic type (MTDPS14) [MIM:616896]
3990 O60313 (OPA1) S R 545 rs398124298 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3991 O60313 (OPA1) D N 550 - Benign
3992 O60313 (OPA1) C Y 551 rs879255592 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3993 O60313 (OPA1) R H 571 rs140606054 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3994 O60313 (OPA1) L P 574 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3995 O60313 (OPA1) Y C 582 rs121908376 Disease: Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
3996 O60313 (OPA1) R Q 590 rs147077380 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3997 O60313 (OPA1) R W 590 rs778998909 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3998 O60313 (OPA1) L P 593 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
3999 O60313 (OPA1) S L 646 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4000 O60313 (OPA1) N K 728 rs1292852465 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4001 O60313 (OPA1) G D 768 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4002 O60313 (OPA1) R W 781 rs190235251 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4003 O60313 (OPA1) Q R 785 rs1064797302 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4004 O60313 (OPA1) S Y 823 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4005 O60313 (OPA1) Y C 841 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4006 O60313 (OPA1) R L 882 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4007 O60313 (OPA1) L P 887 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4008 O60313 (OPA1) E G 907 rs863224138 Benign
4009 O60313 (OPA1) V D 910 rs387906901 Disease: Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
4010 O60313 (OPA1) R C 932 rs145710079 Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4011 O60313 (OPA1) L P 939 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4012 O60313 (OPA1) L P 949 - Disease: Optic atrophy 1 (OPA1) [MIM:165500]
4013 O60315 (ZEB2) R G 953 - Disease: Mowat-Wilson syndrome (MOWS) [MIM:235730]
4014 O60315 (ZEB2) Q R 1119 rs137852983 Disease: Mowat-Wilson syndrome (MOWS) [MIM:235730]
4015 O60318 (MCM3AP) S L 102 rs9975588 Benign
4016 O60318 (MCM3AP) M V 288 rs17182545 Benign
4017 O60318 (MCM3AP) R L 333 rs17182552 Benign
4018 O60318 (MCM3AP) P L 413 rs17182566 Benign
4019 O60318 (MCM3AP) P L 1051 rs17182850 Benign
4020 O60318 (MCM3AP) V M 1062 rs17182857 Benign
4021 O60318 (MCM3AP) R W 1314 rs17176709 Benign
4022 O60318 (MCM3AP) D E 1449 rs17183220 Benign
4023 O60318 (MCM3AP) V I 1576 rs17183248 Benign
4024 O60318 (MCM3AP) A T 1795 rs17183290 Benign
4025 O60318 (MCM3AP) R C 1831 rs2298697 Benign
4026 O60318 (MCM3AP) L R 1870 rs17176933 Benign
4027 O60318 (MCM3AP) A V 1941 rs17183403 Benign
4028 O60320 (FAM189A1) G S 228 rs2292628 Benign
4029 O60320 (FAM189A1) G D 314 rs2306933 Benign
4030 O60320 (FAM189A1) H R 375 rs2256277 Benign
4031 O60320 (FAM189A1) R H 393 rs2256273 Benign
4032 O60320 (FAM189A1) V A 431 rs2279482 Benign
4033 O60331 (PIP5K1C) D N 253 rs121908315 Disease: Lethal congenital contracture syndrome 3 (LCCS3) [MIM:611369]
4034 O60333 (KIF1B) S L 34 rs1269940164 Benign
4035 O60333 (KIF1B) Q L 98 rs121908160 Disease: Charcot- Marie-Tooth disease 2A1 (CMT2A1) [MIM:118210]
4036 O60333 (KIF1B) E V 692 rs121908161 Benign
4037 O60333 (KIF1B) T I 873 rs121908162 Benign
4038 O60333 (KIF1B) Y C 1133 rs2297881 Benign
4039 O60333 (KIF1B) P S 1263 rs121908163 Benign
4040 O60333 (KIF1B) S N 1527 rs121908164 Benign
4041 O60333 (KIF1B) V M 1600 rs77172218 Benign
4042 O60333 (KIF1B) E K 1674 rs143669846 Benign
4043 O60336 (MAPKBP1) Y S 204 rs4354909 Benign
4044 O60336 (MAPKBP1) L V 313 rs1201689 Benign
4045 O60336 (MAPKBP1) R P 1240 rs3959569 Benign
4046 O60337 (MARCHF6) P L 622 rs1062914 Benign
4047 O60341 (KDM1A) E K 379 rs864309715 Disease: Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728]
4048 O60341 (KDM1A) D G 556 rs864309716 Disease: Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728]
4049 O60341 (KDM1A) Y H 761 rs864309714 Disease: Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728]
4050 O60343 (TBC1D4) P L 619 rs56223054 Benign
4051 O60343 (TBC1D4) V I 819 rs1062087 Benign
4052 O60343 (TBC1D4) V A 1119 rs58232698 Benign
4053 O60343 (TBC1D4) T M 1147 rs9600455 Benign
4054 O60343 (TBC1D4) V A 1275 rs557337 Benign
4055 O60343 (TBC1D4) L I 1284 rs11616741 Benign
4056 O60346 (PHLPP1) S T 1118 rs9950585 Benign
4057 O60353 (FZD6) M V 33 rs827528 Benign
4058 O60353 (FZD6) H Y 140 rs80216383 Benign
4059 O60353 (FZD6) Q E 152 rs61753730 Benign
4060 O60353 (FZD6) M L 345 rs3808553 Benign
4061 O60353 (FZD6) A D 388 rs142694816 Benign
4062 O60353 (FZD6) R Q 405 rs150760762 Benign
4063 O60353 (FZD6) R H 511 rs767273753 Benign
4064 O60353 (FZD6) R C 511 rs151339003 Disease: Nail disorder, non- syndromic congenital, 10 (NDNC10) [MIM:614157]
4065 O60353 (FZD6) G R 604 rs79408516 Benign
4066 O60353 (FZD6) S T 620 rs116195528 Benign
4067 O60353 (FZD6) A E 664 rs12549394 Benign
4068 O60383 (GDF9) T I 121 rs149821575 Benign
4069 O60383 (GDF9) P L 374 rs373477788 Benign
4070 O60383 (GDF9) R C 454 rs61754582 Benign
4071 O60391 (GRIN3B) T M 157 rs2240154 Benign
4072 O60391 (GRIN3B) R C 180 rs201484790 Benign
4073 O60391 (GRIN3B) R W 194 rs199717057 Benign
4074 O60391 (GRIN3B) R Q 247 rs370645758 Benign
4075 O60391 (GRIN3B) R W 247 rs143106549 Benign
4076 O60391 (GRIN3B) E K 332 rs200777913 Benign
4077 O60391 (GRIN3B) R H 350 rs144334537 Benign
4078 O60391 (GRIN3B) R W 404 rs4807399 Benign
4079 O60391 (GRIN3B) W R 414 rs2240157 Benign
4080 O60391 (GRIN3B) G S 515 rs375104717 Benign
4081 O60391 (GRIN3B) T M 577 rs2240158 Benign
4082 O60391 (GRIN3B) A V 583 rs769335041 Benign
4083 O60391 (GRIN3B) R C 598 rs139187576 Benign
4084 O60391 (GRIN3B) R H 608 rs540348423 Benign
4085 O60391 (GRIN3B) T A 612 rs60621387 Benign
4086 O60391 (GRIN3B) S L 678 rs138448790 Benign
4087 O60391 (GRIN3B) A T 845 rs2285906 Benign
4088 O60391 (GRIN3B) V M 928 rs200419950 Benign
4089 O60393 (NOBOX) R L 44 rs115206969 Benign
4090 O60393 (NOBOX) S T 342 rs193303103 Disease: Premature ovarian failure 5 (POF5) [MIM:611548]
4091 O60393 (NOBOX) V L 350 rs193303104 Disease: Premature ovarian failure 5 (POF5) [MIM:611548]
4092 O60393 (NOBOX) R H 355 rs201947677 Disease: Premature ovarian failure 5 (POF5) [MIM:611548]
4093 O60393 (NOBOX) R Q 360 rs199538689 Benign
4094 O60393 (NOBOX) G S 482 rs2525702 Benign
4095 O60393 (NOBOX) F L 517 rs2699503 Benign
4096 O60393 (NOBOX) P L 619 rs146227301 Benign
4097 O60403 (OR10H2) L Q 40 rs4569397 Benign
4098 O60403 (OR10H2) S F 171 rs1806931 Benign
4099 O60404 (OR10H3) R S 7 rs1966357 Benign
4100 O60404 (OR10H3) L I 14 rs2240227 Benign
4101 O60404 (OR10H3) R H 54 rs11670007 Benign
4102 O60404 (OR10H3) V M 224 rs2240228 Benign
4103 O60404 (OR10H3) S N 293 rs2240229 Benign
4104 O60412 (OR7C2) T M 118 rs8113325 Benign
4105 O60412 (OR7C2) R H 122 rs11883178 Benign
4106 O60423 (ATP8B3) G R 45 rs7250872 Benign
4107 O60423 (ATP8B3) V I 618 rs8100856 Benign
4108 O60427 (FADS1) P S 272 rs17856235 Benign
4109 O60431 (OR1I1) I F 50 rs59166286 Benign
4110 O60431 (OR1I1) P R 139 rs8104843 Benign
4111 O60431 (OR1I1) M L 163 rs76524797 Benign
4112 O60431 (OR1I1) F L 211 rs8108721 Benign
4113 O60431 (OR1I1) Y S 252 rs8105737 Benign
4114 O60431 (OR1I1) I F 282 rs75323205 Benign
4115 O60431 (OR1I1) I T 292 rs16980312 Benign
4116 O60437 (PPL) R Q 520 rs8063727 Benign
4117 O60437 (PPL) A S 572 rs35300633 Benign
4118 O60437 (PPL) R Q 589 rs1049205 Benign
4119 O60437 (PPL) H Y 631 rs34936263 Benign
4120 O60437 (PPL) R S 819 rs2734742 Benign
4121 O60437 (PPL) E Q 891 rs35869286 Benign
4122 O60437 (PPL) A V 1007 rs2075639 Benign
4123 O60437 (PPL) E Q 1199 rs12446946 Benign
4124 O60437 (PPL) Q E 1573 rs2037912 Benign
4125 O60437 (PPL) G R 1754 rs35865314 Benign
4126 O60443 (GSDME) P T 142 rs754554 Benign
4127 O60443 (GSDME) M T 174 rs876306 Benign
4128 O60443 (GSDME) V M 207 rs12540919 Benign
4129 O60447 (EVI5) D V 82 rs1064580 Benign
4130 O60447 (EVI5) I V 336 rs2391199 Benign
4131 O60447 (EVI5) Q H 612 rs11808092 Benign
4132 O60449 (LY75) W R 20 rs35284483 Benign
4133 O60449 (LY75) E D 268 rs2271381 Benign
4134 O60449 (LY75) K M 486 rs2729709 Benign
4135 O60449 (LY75) V A 666 rs34020639 Benign
4136 O60449 (LY75) D N 692 rs1397706 Benign
4137 O60449 (LY75) D E 807 rs3951216 Benign
4138 O60449 (LY75) D A 884 rs3815875 Benign
4139 O60449 (LY75) T S 1202 rs2303549 Benign
4140 O60449 (LY75) K N 1321 rs12692566 Benign
4141 O60449 (LY75) K R 1347 rs17827158 Benign
4142 O60449 (LY75) Y H 1391 rs2059696 Benign
4143 O60449 (LY75) T I 1393 rs35941588 Benign
4144 O60462 (NRP2) K R 123 rs849541 Benign
4145 O60462 (NRP2) R C 334 rs114144673 Benign
4146 O60462 (NRP2) R W 428 rs139711818 Benign
4147 O60462 (NRP2) E K 602 rs1128169 Benign
4148 O60469 (DSCAM) D E 232 rs2297270 Benign
4149 O60477 (BRINP1) S R 347 - Benign
4150 O60477 (BRINP1) R H 358 rs17476783 Benign
4151 O60477 (BRINP1) A T 437 rs1043377 Benign
4152 O60481 (ZIC3) S C 109 rs373628598 Disease: Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]
4153 O60481 (ZIC3) P A 217 rs104894963 Disease: Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
4154 O60481 (ZIC3) C S 253 rs104894961 Disease: Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
4155 O60481 (ZIC3) W G 255 rs122463168 Disease: Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
4156 O60481 (ZIC3) H R 286 - Disease: Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
4157 O60481 (ZIC3) H N 318 - Disease: VACTERL association X-linked with or without hydrocephalu s (VACTERLX) [MIM:314390]
4158 O60481 (ZIC3) T M 323 rs122462165 Disease: Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
4159 O60481 (ZIC3) K E 405 rs104894962 Disease: Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
4160 O60481 (ZIC3) A G 447 - Disease: Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]
4161 O60486 (PLXNC1) E K 1499 rs11107500 Benign
4162 O60488 (ACSL4) D N 379 - Benign
4163 O60488 (ACSL4) R S 570 rs122458138 Disease: Mental retardation, X-linked 63 (MRX63) [MIM:300387]
4164 O60494 (CUBN) G R 66 rs12259370 Benign
4165 O60494 (CUBN) F I 124 rs1801220 Benign
4166 O60494 (CUBN) F S 253 rs1801222 Benign
4167 O60494 (CUBN) A T 335 rs57335729 Benign
4168 O60494 (CUBN) P T 389 rs1801224 Benign
4169 O60494 (CUBN) I M 504 rs2228053 Benign
4170 O60494 (CUBN) H Y 730 rs7905349 Benign
4171 O60494 (CUBN) L V 969 rs11254354 Benign
4172 O60494 (CUBN) Y H 1032 rs1801227 Benign
4173 O60494 (CUBN) P L 1297 rs121434430 Disease: Recessive hereditary megaloblasti c anemia 1 (RH-MGA1) [MIM:261100]
4174 O60494 (CUBN) N Y 1545 - Benign
4175 O60494 (CUBN) P S 1559 rs1801231 Benign
4176 O60494 (CUBN) V I 1769 rs74116778 Benign
4177 O60494 (CUBN) R W 1775 rs1276708 Benign
4178 O60494 (CUBN) G S 1840 rs2271462 Benign
4179 O60494 (CUBN) S G 1935 rs41289305 Benign
4180 O60494 (CUBN) P T 1971 rs2356590 Benign
4181 O60494 (CUBN) L F 2153 rs62619939 Benign
4182 O60494 (CUBN) C Y 2162 rs1276712 Benign
4183 O60494 (CUBN) F C 2263 rs2271460 Benign
4184 O60494 (CUBN) R Q 2444 rs11254274 Benign
4185 O60494 (CUBN) P R 2575 rs3740168 Benign
4186 O60494 (CUBN) G R 2691 rs1801237 Benign
4187 O60494 (CUBN) S W 2717 rs2796835 Benign
4188 O60494 (CUBN) L I 2879 rs1801238 Benign
4189 O60494 (CUBN) E Q 2968 rs45569534 Benign
4190 O60494 (CUBN) I V 2984 rs1801239 Benign
4191 O60494 (CUBN) E G 3002 rs1801240 Benign
4192 O60494 (CUBN) T I 3422 rs1801230 Benign
4193 O60494 (CUBN) T S 3432 rs7898873 Benign
4194 O60494 (CUBN) N K 3552 rs1801232 Benign
4195 O60496 (DOK2) A P 152 rs1140295 Benign
4196 O60496 (DOK2) P L 274 rs34215892 Benign
4197 O60496 (DOK2) S A 394 rs2242241 Benign
4198 O60500 (NPHS1) W S 64 rs386833897 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4199 O60500 (NPHS1) L V 96 rs386833929 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4200 O60500 (NPHS1) A E 107 rs386833934 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4201 O60500 (NPHS1) A T 107 rs386833933 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4202 O60500 (NPHS1) A V 107 rs386833934 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4203 O60500 (NPHS1) E K 117 rs3814995 Benign
4204 O60500 (NPHS1) P L 167 rs386833945 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4205 O60500 (NPHS1) I N 171 rs386833946 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4206 O60500 (NPHS1) I N 173 rs386833949 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4207 O60500 (NPHS1) N I 188 rs145125791 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4208 O60500 (NPHS1) E K 189 rs139598219 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4209 O60500 (NPHS1) T A 233 rs35238405 Benign
4210 O60500 (NPHS1) L P 237 rs373835033 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4211 O60500 (NPHS1) R W 256 rs386833960 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4212 O60500 (NPHS1) C R 265 rs267606917 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4213 O60500 (NPHS1) G C 270 rs386833961 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4214 O60500 (NPHS1) T I 294 rs113825926 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4215 O60500 (NPHS1) R C 299 rs753476209 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4216 O60500 (NPHS1) P H 340 rs386833861 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4217 O60500 (NPHS1) G E 347 rs386833862 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4218 O60500 (NPHS1) S P 350 rs386833863 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4219 O60500 (NPHS1) S R 366 rs386833864 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4220 O60500 (NPHS1) R C 367 rs386833865 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4221 O60500 (NPHS1) P L 368 rs386833867 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4222 O60500 (NPHS1) P S 368 rs386833866 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4223 O60500 (NPHS1) L V 376 rs386833868 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4224 O60500 (NPHS1) R W 379 rs386833871 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4225 O60500 (NPHS1) L P 392 rs34320609 Benign
4226 O60500 (NPHS1) R W 407 rs386833874 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4227 O60500 (NPHS1) R Q 408 rs33950747 Benign
4228 O60500 (NPHS1) G C 412 rs142008044 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4229 O60500 (NPHS1) C F 417 rs386833875 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4230 O60500 (NPHS1) E K 447 rs28939695 Benign
4231 O60500 (NPHS1) R Q 460 rs386833880 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4232 O60500 (NPHS1) C Y 465 rs386833881 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4233 O60500 (NPHS1) P S 519 rs386833884 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4234 O60500 (NPHS1) C F 528 rs386833885 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4235 O60500 (NPHS1) R C 558 rs386833886 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4236 O60500 (NPHS1) C S 567 rs1468337078 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4237 O60500 (NPHS1) S R 569 rs386833888 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4238 O60500 (NPHS1) S N 572 rs386833889 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4239 O60500 (NPHS1) P Q 575 rs386833890 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4240 O60500 (NPHS1) R G 586 rs730880174 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4241 O60500 (NPHS1) L R 587 rs386833892 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4242 O60500 (NPHS1) V I 608 rs367976914 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4243 O60500 (NPHS1) L Q 610 rs386833894 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4244 O60500 (NPHS1) C F 623 rs386833895 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4245 O60500 (NPHS1) N K 673 rs191807913 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4246 O60500 (NPHS1) W C 681 rs386833900 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4247 O60500 (NPHS1) V G 709 rs386833902 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4248 O60500 (NPHS1) S C 724 rs386833905 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4249 O60500 (NPHS1) A V 739 rs386833907 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4250 O60500 (NPHS1) I T 742 rs386833908 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4251 O60500 (NPHS1) R C 743 rs386833909 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4252 O60500 (NPHS1) R P 802 rs114203578 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4253 O60500 (NPHS1) R W 802 rs386833911 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4254 O60500 (NPHS1) A D 806 rs386833912 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4255 O60500 (NPHS1) D V 819 rs387906357 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4256 O60500 (NPHS1) V M 822 rs267606918 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4257 O60500 (NPHS1) R C 831 rs386833915 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4258 O60500 (NPHS1) L P 832 rs386833916 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4259 O60500 (NPHS1) V F 834 rs386833917 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4260 O60500 (NPHS1) S P 910 rs143649022 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4261 O60500 (NPHS1) A T 912 rs763162233 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4262 O60500 (NPHS1) R S 976 rs138656762 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4263 O60500 (NPHS1) V L 991 rs34736717 Benign
4264 O60500 (NPHS1) S N 1016 rs367986918 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4265 O60500 (NPHS1) G V 1020 rs749003854 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4266 O60500 (NPHS1) N S 1077 rs4806213 Benign
4267 O60500 (NPHS1) R C 1140 rs143092783 Disease: Nephrotic syndrome 1 (NPHS1) [MIM:256300]
4268 O60502 (OGA) G E 46 rs3740421 Benign
4269 O60502 (OGA) E K 602 rs17853930 Benign
4270 O60503 (ADCY9) I M 772 rs2230739 Benign
4271 O60503 (ADCY9) N S 1154 rs61731445 Benign
4272 O60504 (SORBS3) P L 255 rs3758036 Benign
4273 O60504 (SORBS3) I T 556 rs2449331 Benign
4274 O60504 (SORBS3) T A 573 rs1047030 Benign
4275 O60513 (B4GALT4) Q E 116 rs3764779 Benign
4276 O60522 (TDRD6) R Q 192 rs7750596 Benign
4277 O60522 (TDRD6) T A 398 rs3799277 Benign
4278 O60522 (TDRD6) I M 795 rs9463234 Benign
4279 O60522 (TDRD6) Q E 1014 rs9381472 Benign
4280 O60524 (NEMF) S C 257 rs3100906 Benign
4281 O60543 (CIDEA) V F 115 rs11545881 Benign
4282 O60548 (FOXD2) A P 368 rs2405913 Benign
4283 O60563 (CCNT1) H R 362 rs17123261 Benign
4284 O60563 (CCNT1) R C 541 rs201951577 Benign
4285 O60566 (BUB1B) R Q 36 rs534297115 Disease: Premature chromatid separation trait (PCS) [MIM:176430]
4286 O60566 (BUB1B) T M 40 rs56079734 Benign
4287 O60566 (BUB1B) R Q 349 rs1801376 Benign
4288 O60566 (BUB1B) P S 378 rs17851677 Benign
4289 O60566 (BUB1B) E D 390 rs1017842 Benign
4290 O60566 (BUB1B) R Q 550 rs28989187 Disease: Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
4291 O60566 (BUB1B) V A 618 rs1801528 Benign
4292 O60566 (BUB1B) R H 814 rs28989182 Disease: Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
4293 O60566 (BUB1B) L F 844 rs28989181 Disease: Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
4294 O60566 (BUB1B) I T 909 rs28989184 Disease: Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
4295 O60566 (BUB1B) Q H 921 rs28989183 Disease: Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
4296 O60566 (BUB1B) L P 1012 rs28989185 Disease: Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
4297 O60568 (PLOD3) A V 151 rs35627324 Benign
4298 O60568 (PLOD3) N S 223 rs121434414 Disease: Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]
4299 O60568 (PLOD3) R W 286 rs1134907 Benign
4300 O60575 (SPINK4) V I 7 rs706107 Benign
4301 O60602 (TLR5) T I 82 rs764535 Benign
4302 O60602 (TLR5) P A 112 rs5744166 Benign
4303 O60602 (TLR5) N T 143 rs5744167 Benign
4304 O60602 (TLR5) Q K 181 rs45528236 Benign
4305 O60602 (TLR5) N S 592 rs2072493 Benign
4306 O60602 (TLR5) F L 616 rs5744174 Benign
4307 O60602 (TLR5) I F 644 rs5744175 Benign
4308 O60602 (TLR5) L F 769 rs56243703 Benign
4309 O60602 (TLR5) F L 822 rs7512943 Benign
4310 O60603 (TLR2) N D 89 rs137853176 Benign
4311 O60603 (TLR2) T I 411 rs5743699 Benign
4312 O60603 (TLR2) R H 571 rs61735277 Benign
4313 O60603 (TLR2) R H 579 rs5743703 Benign
4314 O60603 (TLR2) P H 631 rs5743704 Benign
4315 O60603 (TLR2) S R 636 rs137853177 Benign
4316 O60603 (TLR2) R W 677 rs121917864 Benign
4317 O60603 (TLR2) Y N 715 rs5743706 Benign
4318 O60603 (TLR2) R Q 753 rs5743708 Benign
4319 O60610 (DIAPH1) P S 678 rs186370335 Disease: Deafness, autosomal dominant, 1 (DFNA1) [MIM:124900]
4320 O60635 (TSPAN1) S F 38 rs2234267 Benign
4321 O60635 (TSPAN1) V M 87 rs2234268 Benign
4322 O60636 (TSPAN2) R L 118 rs9659602 Benign
4323 O60656 (UGT1A9) M T 33 rs72551330 Benign
4324 O60658 (PDE8A) E G 112 rs17855018 Benign
4325 O60662 (KLHL41) A T 271 rs28763868 Benign
4326 O60662 (KLHL41) S L 413 rs730882260 Disease: Nemaline myopathy 9 (NEM9) [MIM:615731]
4327 O60662 (KLHL41) M V 481 rs34623017 Benign
4328 O60663 (LMX1B) C R 59 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4329 O60663 (LMX1B) C S 59 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4330 O60663 (LMX1B) S F 75 rs2235058 Benign
4331 O60663 (LMX1B) H N 77 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4332 O60663 (LMX1B) H Q 77 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4333 O60663 (LMX1B) H Y 77 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4334 O60663 (LMX1B) C R 80 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4335 O60663 (LMX1B) L W 81 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4336 O60663 (LMX1B) C F 83 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4337 O60663 (LMX1B) C G 83 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4338 O60663 (LMX1B) C W 83 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4339 O60663 (LMX1B) C Y 83 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4340 O60663 (LMX1B) C R 86 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4341 O60663 (LMX1B) C W 103 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4342 O60663 (LMX1B) D G 106 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4343 O60663 (LMX1B) C F 118 rs121909488 Disease: Nail-patella syndrome (NPS) [MIM:161200]
4344 O60663 (LMX1B) C Y 118 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4345 O60663 (LMX1B) H Y 137 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4346 O60663 (LMX1B) C Y 140 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4347 O60663 (LMX1B) C S 143 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4348 O60663 (LMX1B) C F 146 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4349 O60663 (LMX1B) C Y 146 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4350 O60663 (LMX1B) C W 165 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4351 O60663 (LMX1B) R Q 223 rs121909491 Disease: Nail-patella syndrome (NPS) [MIM:161200]
4352 O60663 (LMX1B) A P 236 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4353 O60663 (LMX1B) S P 241 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4354 O60663 (LMX1B) R P 249 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4355 O60663 (LMX1B) L P 252 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4356 O60663 (LMX1B) A V 253 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4357 O60663 (LMX1B) W C 266 - Disease: Nail-patella syndrome (NPS) [MIM:161200]
4358 O60663 (LMX1B) N K 269 rs121909486 Disease: Nail-patella syndrome (NPS) [MIM:161200]
4359 O60664 (PLIN3) I V 56 rs8289 Benign
4360 O60664 (PLIN3) V A 275 rs9973235 Benign
4361 O60669 (SLC16A7) T S 445 rs3763980 Benign
4362 O60671 (RAD1) A G 33 rs2308951 Benign
4363 O60671 (RAD1) H Q 39 rs41271673 Benign
4364 O60671 (RAD1) T S 104 rs1805328 Benign
4365 O60671 (RAD1) G D 114 rs2308957 Benign
4366 O60671 (RAD1) E G 281 rs1805327 Benign
4367 O60673 (REV3L) Q H 231 rs1053911 Benign
4368 O60673 (REV3L) S T 389 - Benign
4369 O60673 (REV3L) Q P 397 rs3218579 Benign
4370 O60673 (REV3L) S G 633 rs3218598 Benign
4371 O60673 (REV3L) M T 693 rs3218593 Benign
4372 O60673 (REV3L) R Q 962 rs17539588 Benign
4373 O60673 (REV3L) Y C 1156 rs458017 Benign
4374 O60673 (REV3L) S L 1220 rs3218600 Benign
4375 O60673 (REV3L) T I 1224 rs462779 Benign
4376 O60673 (REV3L) T P 1284 rs3218578 Benign
4377 O60673 (REV3L) S T 1302 rs3218597 Benign
4378 O60673 (REV3L) Q H 1309 rs3218595 Benign
4379 O60673 (REV3L) P T 1339 rs17539616 Benign
4380 O60673 (REV3L) Q P 1469 rs3218572 Benign
4381 O60673 (REV3L) K E 1540 rs1053913 Benign
4382 O60673 (REV3L) S L 1576 rs3218582 Benign
4383 O60673 (REV3L) D N 1713 rs3218585 Benign
4384 O60673 (REV3L) S T 1724 rs17539644 Benign
4385 O60673 (REV3L) P S 1791 rs17539651 Benign
4386 O60673 (REV3L) D H 1812 rs3218599 Benign
4387 O60673 (REV3L) G R 1923 rs3218604 Benign
4388 O60673 (REV3L) R H 1970 rs3218606 Benign
4389 O60673 (REV3L) E V 2015 rs17539692 Benign
4390 O60673 (REV3L) I M 2075 rs17510963 Benign
4391 O60673 (REV3L) S T 2607 - Benign
4392 O60673 (REV3L) R Q 2762 rs3218592 Benign
4393 O60673 (REV3L) V I 3064 rs3204953 Benign
4394 O60674 (JAK2) G D 127 rs56118985 Benign
4395 O60674 (JAK2) K R 346 rs55667734 Benign
4396 O60674 (JAK2) A E 377 rs55953208 Benign
4397 O60674 (JAK2) L V 393 rs2230723 Benign
4398 O60674 (JAK2) K L 539 rs121912473 Benign
4399 O60674 (JAK2) D E 584 rs17490221 Benign
4400 O60674 (JAK2) K N 607 rs121912472 Disease: Leukemia, acute myelogenous (AML) [MIM:601626]
4401 O60674 (JAK2) V F 617 rs77375493 Disease: Thrombocythe mia 3 (THCYT3) [MIM:614521]
4402 O60674 (JAK2) V I 617 rs77375493 Disease: Thrombocythe mia 3 (THCYT3) [MIM:614521]
4403 O60674 (JAK2) R H 1063 rs41316003 Benign
4404 O60676 (CST8) A V 52 rs35190670 Benign
4405 O60676 (CST8) A P 142 rs1054633 Benign
4406 O60678 (PRMT3) L V 440 rs3758805 Benign
4407 O60678 (PRMT3) S C 470 rs11025585 Benign
4408 O60678 (PRMT3) N S 508 rs6483700 Benign
4409 O60683 (PEX10) T A 274 rs34154371 Benign
4410 O60683 (PEX10) H Q 290 rs61752095 Disease: Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871]
4411 O60687 (SRPX2) T S 287 rs17851822 Benign
4412 O60706 (ABCC9) H Y 60 rs387907230 Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4413 O60706 (ABCC9) D E 207 - Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4414 O60706 (ABCC9) G C 380 rs1165205076 Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4415 O60706 (ABCC9) P L 432 - Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4416 O60706 (ABCC9) A V 478 rs387907211 Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4417 O60706 (ABCC9) S P 1020 rs387907229 Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4418 O60706 (ABCC9) F S 1039 - Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4419 O60706 (ABCC9) C Y 1043 rs387907210 Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4420 O60706 (ABCC9) S Y 1054 - Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4421 O60706 (ABCC9) P S 1108 rs35404804 Benign
4422 O60706 (ABCC9) R C 1116 rs387907228 Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4423 O60706 (ABCC9) R H 1116 rs387907227 Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4424 O60706 (ABCC9) R Q 1154 rs387907209 Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4425 O60706 (ABCC9) R W 1154 rs387907208 Disease: Hypertrichot ic osteochondro dysplasia (HTOCD) [MIM:239850]
4426 O60706 (ABCC9) A T 1513 rs72559751 Disease: Cardiomyopat hy, dilated 1O (CMD1O) [MIM:608569]
4427 O60706 (ABCC9) T I 1547 rs387906805 Disease: Atrial fibrillation , familial, 12 (ATFB12) [MIM:614050]
4428 O60711 (LPXN) P T 148 rs12271558 Benign
4429 O60716 (CTNND1) S F 171 rs11229133 Benign
4430 O60716 (CTNND1) Y C 217 rs11570194 Benign
4431 O60716 (CTNND1) R C 464 rs11570199 Benign
4432 O60716 (CTNND1) R K 915 rs11570222 Benign
4433 O60721 (SLC24A1) T S 37 rs3743171 Benign
4434 O60721 (SLC24A1) V L 311 rs34363823 Benign
4435 O60721 (SLC24A1) L V 313 rs35571449 Benign
4436 O60729 (CDC14B) I T 302 rs16911114 Benign
4437 O60729 (CDC14B) I T 341 rs16911075 Benign
4438 O60732 (MAGEC1) C Y 25 rs176036 Benign
4439 O60732 (MAGEC1) T I 151 rs176037 Benign
4440 O60732 (MAGEC1) Q H 257 rs143440588 Benign
4441 O60732 (MAGEC1) F S 276 rs75148863 Benign
4442 O60732 (MAGEC1) H Q 327 rs176047 Benign
4443 O60732 (MAGEC1) H Y 709 rs56256227 Benign
4444 O60733 (PLA2G6) V I 58 rs11570605 Benign
4445 O60733 (PLA2G6) R G 63 rs11570606 Benign
4446 O60733 (PLA2G6) R Q 70 rs11570607 Benign
4447 O60733 (PLA2G6) D N 183 rs11570646 Benign
4448 O60733 (PLA2G6) V E 310 rs121908682 Disease: Neurodegener ation with brain iron accumulation 2A (NBIA2A) [MIM:256600]
4449 O60733 (PLA2G6) A T 341 - Disease: Neurodegener ation with brain iron accumulation 2A (NBIA2A) [MIM:256600]
4450 O60733 (PLA2G6) A T 343 rs11570680 Benign
4451 O60733 (PLA2G6) D G 484 - Disease: Neurodegener ation with brain iron accumulation 2A (NBIA2A) [MIM:256600]
4452 O60733 (PLA2G6) G C 517 - Disease: Neurodegener ation with brain iron accumulation 2A (NBIA2A) [MIM:256600]
4453 O60733 (PLA2G6) K T 545 rs121908681 Disease: Neurodegener ation with brain iron accumulation 2B (NBIA2B) [MIM:610217]
4454 O60733 (PLA2G6) R W 550 rs1004616610 Benign
4455 O60733 (PLA2G6) R W 632 rs121908683 Disease: Neurodegener ation with brain iron accumulation 2B (NBIA2B) [MIM:610217]
4456 O60733 (PLA2G6) G R 638 - Disease: Neurodegener ation with brain iron accumulation 2A (NBIA2A) [MIM:256600]
4457 O60733 (PLA2G6) T M 661 rs767689496 Disease: Neurodegener ation with brain iron accumulation 2A (NBIA2A) [MIM:256600]
4458 O60733 (PLA2G6) R Q 741 rs121908686 Disease: Parkinson disease 14 (PARK14) [MIM:612953]
4459 O60733 (PLA2G6) R W 741 - Disease: Neurodegener ation with brain iron accumulation 2A (NBIA2A) [MIM:256600]
4460 O60733 (PLA2G6) R W 747 rs121908687 Disease: Parkinson disease 14 (PARK14) [MIM:612953]
4461 O60733 (PLA2G6) S T 774 rs34184838 Benign
4462 O60741 (HCN1) P S 42 rs56164833 Benign
4463 O60741 (HCN1) S F 100 rs587777492 Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4464 O60741 (HCN1) M I 153 rs1057519548 Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4465 O60741 (HCN1) M R 243 - Disease: Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482]
4466 O60741 (HCN1) S P 272 rs587777493 Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4467 O60741 (HCN1) H Y 279 rs587777495 Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4468 O60741 (HCN1) R T 297 rs587777494 Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4469 O60741 (HCN1) M L 305 - Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4470 O60741 (HCN1) C S 329 - Disease: Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482]
4471 O60741 (HCN1) G C 391 - Disease: Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482]
4472 O60741 (HCN1) G D 391 rs1057519547 Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4473 O60741 (HCN1) G S 391 - Disease: Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482]
4474 O60741 (HCN1) I L 397 - Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4475 O60741 (HCN1) S P 399 - Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4476 O60741 (HCN1) D H 401 rs587777491 Disease: Epileptic encephalopat hy, early infantile, 24 (EIEE24) [MIM:615871]
4477 O60741 (HCN1) V M 414 - Disease: Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482]
4478 O60741 (HCN1) R Q 590 - Disease: Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482]
4479 O60755 (GALR3) R G 342 rs8137541 Benign
4480 O60755 (GALR3) Q R 349 rs8137553 Benign
4481 O60759 (CYTIP) D N 37 rs1042038 Benign
4482 O60759 (CYTIP) Q E 83 rs2229345 Benign
4483 O60762 (DPM1) R G 92 rs121908583 Disease: Congenital disorder of glycosylatio n 1E (CDG1E) [MIM:608799]
4484 O60762 (DPM1) G V 152 rs587777116 Disease: Congenital disorder of glycosylatio n 1E (CDG1E) [MIM:608799]
4485 O60762 (DPM1) S P 248 rs587777114 Disease: Congenital disorder of glycosylatio n 1E (CDG1E) [MIM:608799]
4486 O60774 (FMO6P) V I 127 rs61731844 Benign
4487 O60774 (FMO6P) V I 257 rs2272797 Benign
4488 O60779 (SLC19A2) D H 93 - Disease: Thiamine- responsive megaloblasti c anemia syndrome (TRMA) [MIM:249270]
4489 O60779 (SLC19A2) S F 143 rs761957186 Disease: Thiamine- responsive megaloblasti c anemia syndrome (TRMA) [MIM:249270]
4490 O60779 (SLC19A2) G D 172 rs28937595 Disease: Thiamine- responsive megaloblasti c anemia syndrome (TRMA) [MIM:249270]
4491 O60783 (MRPS14) R C 108 rs990763738 Disease: Combined oxidative phosphorylat ion deficiency 38 (COXPD38) [MIM:618378]
4492 O60784 (TOM1) R H 84 rs11558473 Benign
4493 O60784 (TOM1) M V 264 rs34371697 Benign
4494 O60806 (TBX19) S F 128 rs74315377 Disease: ACTH deficiency, isolated (IAD) [MIM:201400]
4495 O60809 (PRAMEF10) K I 99 rs3121398 Benign
4496 O60809 (PRAMEF10) R H 144 rs2797709 Benign
4497 O60809 (PRAMEF10) T A 306 rs848424 Benign
4498 O60809 (PRAMEF10) R G 402 rs1736772 Benign
4499 O60810 (PRAMEF4) D E 85 rs4625290 Benign
4500 O60811 (PRAMEF2) R S 33 rs9661554 Benign
4501 O60811 (PRAMEF2) V G 67 rs3204790 Benign
4502 O60811 (PRAMEF2) S W 68 rs17038657 Benign
4503 O60811 (PRAMEF2) T R 72 rs9659529 Benign
4504 O60811 (PRAMEF2) E K 83 rs9728577 Benign
4505 O60811 (PRAMEF2) A T 128 rs142476002 Benign
4506 O60811 (PRAMEF2) T M 141 rs17038667 Benign
4507 O60811 (PRAMEF2) Y C 225 rs3204805 Benign
4508 O60811 (PRAMEF2) T N 233 rs17038692 Benign
4509 O60811 (PRAMEF2) T A 301 rs12139546 Benign
4510 O60811 (PRAMEF2) C Y 302 rs17404799 Benign
4511 O60811 (PRAMEF2) N Y 304 rs1063784 Benign
4512 O60811 (PRAMEF2) E G 308 rs12139550 Benign
4513 O60811 (PRAMEF2) L M 310 rs1063787 Benign
4514 O60811 (PRAMEF2) F Y 316 rs1063788 Benign
4515 O60811 (PRAMEF2) C R 375 rs1063796 Benign
4516 O60812 (HNRNPCL1) D V 81 rs2982092 Benign
4517 O60812 (HNRNPCL1) Q H 208 rs6702447 Benign
4518 O60812 (HNRNPCL1) V D 258 rs2076063 Benign
4519 O60826 (CCDC22) T A 17 rs863225428 Disease: Ritscher- Schinzel syndrome 2 (RTSC2) [MIM:300963]
4520 O60826 (CCDC22) D N 546 rs147222955 Benign
4521 O60826 (CCDC22) Y C 557 rs863225429 Disease: Ritscher- Schinzel syndrome 2 (RTSC2) [MIM:300963]
4522 O60828 (PQBP1) Y C 65 rs121917899 Disease: Renpenning syndrome 1 (RENS1) [MIM:309500]
4523 O60828 (PQBP1) P L 244 rs878853145 Disease: -
4524 O60831 (PRAF2) L F 56 rs34565429 Benign
4525 O60832 (DKC1) A V 2 rs121912303 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4526 O60832 (DKC1) F V 36 rs121912293 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4527 O60832 (DKC1) I T 38 rs28936072 Disease: Hoyeraal- Hreidarsson syndrome (HHS) [MIM:305000]
4528 O60832 (DKC1) K E 39 rs121912296 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4529 O60832 (DKC1) P R 40 rs121912292 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4530 O60832 (DKC1) E K 41 rs121912302 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4531 O60832 (DKC1) T M 49 rs121912304 Disease: Hoyeraal- Hreidarsson syndrome (HHS) [MIM:305000]
4532 O60832 (DKC1) L V 54 - Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4533 O60832 (DKC1) L S 56 rs121912287 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4534 O60832 (DKC1) R T 65 rs121912301 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4535 O60832 (DKC1) T A 66 rs121912297 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4536 O60832 (DKC1) L F 72 rs121912306 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4537 O60832 (DKC1) L Y 72 rs121912294 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4538 O60832 (DKC1) S G 121 rs121912305 Disease: Hoyeraal- Hreidarsson syndrome (HHS) [MIM:305000]
4539 O60832 (DKC1) G D 223 rs2728533 Benign
4540 O60832 (DKC1) L F 317 rs121912290 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4541 O60832 (DKC1) L V 321 rs2728726 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4542 O60832 (DKC1) R Q 322 rs121912291 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4543 O60832 (DKC1) M I 350 rs121912298 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4544 O60832 (DKC1) M T 350 rs121912300 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4545 O60832 (DKC1) A V 353 rs121912288 Disease: Hoyeraal- Hreidarsson syndrome (HHS) [MIM:305000]
4546 O60832 (DKC1) G E 402 rs121912295 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4547 O60832 (DKC1) G R 402 rs121912299 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4548 O60832 (DKC1) P L 409 rs121912289 Disease: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
4549 O60840 (CACNA1F) P L 14 rs6520408 Benign
4550 O60840 (CACNA1F) C R 74 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4551 O60840 (CACNA1F) G R 150 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4552 O60840 (CACNA1F) S P 229 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4553 O60840 (CACNA1F) G R 261 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4554 O60840 (CACNA1F) G D 369 rs122456133 Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4555 O60840 (CACNA1F) R Q 519 rs34162630 Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4556 O60840 (CACNA1F) G R 603 rs201654095 Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4557 O60840 (CACNA1F) G D 674 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4558 O60840 (CACNA1F) N T 746 rs141159097 Benign
4559 O60840 (CACNA1F) F C 753 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4560 O60840 (CACNA1F) I T 756 rs122456136 Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4561 O60840 (CACNA1F) L P 860 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4562 O60840 (CACNA1F) A D 928 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4563 O60840 (CACNA1F) G R 1018 rs1249437161 Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4564 O60840 (CACNA1F) R W 1060 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4565 O60840 (CACNA1F) L P 1079 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4566 O60840 (CACNA1F) A T 1259 rs34308720 Benign
4567 O60840 (CACNA1F) A T 1270 rs34308720 Benign
4568 O60840 (CACNA1F) L H 1375 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4569 O60840 (CACNA1F) C R 1499 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4570 O60840 (CACNA1F) P R 1500 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4571 O60840 (CACNA1F) L P 1508 - Disease: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
4572 O60840 (CACNA1F) R H 1930 rs33910054 Benign
4573 O60841 (EIF5B) S G 337 rs10642 Benign
4574 O60841 (EIF5B) R G 360 rs3205296 Benign
4575 O60841 (EIF5B) K T 522 rs7558074 Benign
4576 O60844 (ZG16) G S 32 rs235636 Benign
4577 O60844 (ZG16) L V 109 - Benign
4578 O60844 (ZG16) S T 162 rs235638 Benign
4579 O60858 (TRIM13) S T 355 rs1056543 Benign
4580 O60879 (DIAPH2) F L 425 rs20361 Benign
4581 O60879 (DIAPH2) L V 426 rs20361 Benign
4582 O60880 (SH2D1A) Y C 7 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4583 O60880 (SH2D1A) H D 8 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4584 O60880 (SH2D1A) G D 16 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4585 O60880 (SH2D1A) G S 27 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4586 O60880 (SH2D1A) S R 28 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4587 O60880 (SH2D1A) L P 31 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4588 O60880 (SH2D1A) R T 32 rs111033624 Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4589 O60880 (SH2D1A) D Y 33 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4590 O60880 (SH2D1A) C W 42 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4591 O60880 (SH2D1A) G V 49 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4592 O60880 (SH2D1A) T I 53 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4593 O60880 (SH2D1A) Y C 54 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4594 O60880 (SH2D1A) R L 55 rs111033630 Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4595 O60880 (SH2D1A) T I 68 rs111033627 Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4596 O60880 (SH2D1A) I T 84 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4597 O60880 (SH2D1A) F S 87 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4598 O60880 (SH2D1A) Q P 99 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4599 O60880 (SH2D1A) P L 101 rs111033626 Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4600 O60880 (SH2D1A) V G 102 - Disease: Lymphoprolif erative syndrome, X-linked, 1 (XLP1) [MIM:308240]
4601 O60882 (MMP20) K T 18 rs2245803 Benign
4602 O60882 (MMP20) D N 139 rs17099014 Benign
4603 O60882 (MMP20) I L 169 rs17099008 Benign
4604 O60882 (MMP20) V A 275 rs1784423 Benign
4605 O60882 (MMP20) T N 281 rs1784424 Benign
4606 O60883 (GPR37L1) P A 81 rs3795594 Benign
4607 O60883 (GPR37L1) G D 90 rs3795595 Benign
4608 O60883 (GPR37L1) K R 91 rs17854616 Benign
4609 O60885 (BRD4) P S 37 rs35177876 Benign
4610 O60885 (BRD4) A G 371 rs55805532 Benign
4611 O60885 (BRD4) S N 563 rs55970906 Benign
4612 O60885 (BRD4) T S 598 rs34362023 Benign
4613 O60885 (BRD4) R H 669 rs35824241 Benign
4614 O60885 (BRD4) R H 1097 rs35676845 Benign
4615 O60890 (OPHN1) V I 39 rs41303733 Benign
4616 O60890 (OPHN1) A T 45 rs148262378 Benign
4617 O60890 (OPHN1) T M 301 rs138108344 Benign
4618 O60890 (OPHN1) M I 693 rs36095561 Benign
4619 O60896 (RAMP3) G D 26 rs10272187 Benign
4620 O60896 (RAMP3) M L 33 rs11550711 Benign
4621 O60896 (RAMP3) W R 56 rs2074654 Benign
4622 O60906 (SMPD2) P L 3 rs1048197 Benign
4623 O60906 (SMPD2) V I 223 rs9386806 Benign
4624 O60906 (SMPD2) R S 265 rs1476387 Benign
4625 O60909 (B4GALT2) Q H 122 rs1859728 Benign
4626 O60909 (B4GALT2) G R 338 rs35904809 Benign
4627 O60921 (HUS1) S G 126 rs2307261 Benign
4628 O60921 (HUS1) Q K 147 rs2307254 Benign
4629 O60921 (HUS1) D E 221 rs3176588 Benign
4630 O60928 (KCNJ13) Q R 117 - Disease: Leber congenital amaurosis 16 (LCA16) [MIM:614186]
4631 O60928 (KCNJ13) R Q 162 rs757304681 Benign
4632 O60928 (KCNJ13) R W 162 rs121918542 Disease: Snowflake vitreoretina l degeneration (SVD) [MIM:193230]
4633 O60928 (KCNJ13) T I 175 rs1801251 Benign
4634 O60928 (KCNJ13) L P 241 rs143607153 Disease: Leber congenital amaurosis 16 (LCA16) [MIM:614186]
4635 O60928 (KCNJ13) E A 276 rs374411396 Benign
4636 O60928 (KCNJ13) P Q 290 rs17853727 Benign
4637 O60928 (KCNJ13) G C 309 rs17857137 Benign
4638 O60930 (RNASEH1) L F 4 rs1136545 Benign
4639 O60930 (RNASEH1) V I 142 rs766294940 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479]
4640 O60930 (RNASEH1) A V 185 rs1057517675 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479]
4641 O60931 (CTNS) V I 42 rs35086888 Benign
4642 O60931 (CTNS) G V 110 rs121908129 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4643 O60931 (CTNS) I F 133 rs886040970 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4644 O60931 (CTNS) S F 139 rs267606754 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4645 O60931 (CTNS) R G 151 rs1555563010 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4646 O60931 (CTNS) G D 157 - Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4647 O60931 (CTNS) L P 158 rs113994206 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4648 O60931 (CTNS) G D 169 rs121908126 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4649 O60931 (CTNS) Y C 173 rs1555563446 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4650 O60931 (CTNS) N S 177 - Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4651 O60931 (CTNS) N T 177 - Disease: Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
4652 O60931 (CTNS) W R 182 rs764168489 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4653 O60931 (CTNS) G R 197 rs113994207 Disease: Cystinosis, adult, non- nephropathic type (CTNSANN) [MIM:219750]
4654 O60931 (CTNS) P L 200 - Disease: Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
4655 O60931 (CTNS) D N 205 rs113994208 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4656 O60931 (CTNS) Q R 222 rs1327959008 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4657 O60931 (CTNS) T I 260 rs161400 Benign
4658 O60931 (CTNS) K R 280 - Disease: Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
4659 O60931 (CTNS) M I 287 rs922106812 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4660 O60931 (CTNS) N K 288 - Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4661 O60931 (CTNS) S N 298 rs1212133760 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4662 O60931 (CTNS) D G 305 rs1263951539 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4663 O60931 (CTNS) D Y 305 - Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4664 O60931 (CTNS) G R 308 rs746307931 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4665 O60931 (CTNS) G V 308 rs908965524 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4666 O60931 (CTNS) G D 309 - Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4667 O60931 (CTNS) N K 323 rs121908128 Disease: Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
4668 O60931 (CTNS) G R 337 - Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4669 O60931 (CTNS) L P 338 - Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4670 O60931 (CTNS) L R 338 - Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4671 O60931 (CTNS) G R 339 rs121908127 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4672 O60931 (CTNS) D N 346 rs757535731 Disease: Cystinosis, nephropathic type (CTNS) [MIM:219800]
4673 O60934 (NBN) K N 105 rs13312858 Benign
4674 O60934 (NBN) N S 142 rs769414 Benign
4675 O60934 (NBN) L F 150 rs773119929 Disease: Breast cancer (BC) [MIM:114480]
4676 O60934 (NBN) E Q 185 rs1805794 Benign
4677 O60934 (NBN) V F 210 rs61754796 Benign
4678 O60934 (NBN) R W 215 rs34767364 Benign
4679 O60934 (NBN) Q K 216 rs769416 Benign
4680 O60934 (NBN) P L 266 rs769420 Benign
4681 O60934 (NBN) K E 408 rs34120922 Benign
4682 O60934 (NBN) T A 497 rs3026268 Benign
4683 O60934 (NBN) L I 574 rs142334798 Benign
4684 O60936 (NOL3) E Q 21 rs397514600 Disease: Myoclonus, familial, 1 (MYOCL1) [MIM:614937]
4685 O60936 (NOL3) A T 80 rs780601409 Disease: Myoclonus, familial, 1 (MYOCL1) [MIM:614937]
4686 O60938 (KERA) T K 215 rs121917862 Disease: Cornea plana 2, autosomal recessive (CNA2) [MIM:217300]
4687 O60938 (KERA) V G 235 rs737111 Benign
4688 O60938 (KERA) N S 247 rs121917858 Disease: Cornea plana 2, autosomal recessive (CNA2) [MIM:217300]
4689 O60939 (SCN2B) R Q 28 rs72544145 Disease: Atrial fibrillation , familial, 14 (ATFB14) [MIM:615378]
4690 O60939 (SCN2B) R W 28 rs17121819 Disease: Atrial fibrillation , familial, 14 (ATFB14) [MIM:615378]
4691 O60939 (SCN2B) R H 47 rs17121818 Benign
4692 O60941 (DTNB) P H 97 rs17854576 Benign
4693 O60941 (DTNB) I T 116 rs17854577 Benign
4694 O60942 (RNGTT) R H 594 rs17856595 Benign
4695 O75015 (FCGR3B) S R 36 rs200688856 Benign
4696 O75015 (FCGR3B) S N 65 rs448740 Benign
4697 O75015 (FCGR3B) A D 78 rs5030738 Benign
4698 O75015 (FCGR3B) N D 82 rs147574249 Benign
4699 O75015 (FCGR3B) I V 106 rs2290834 Benign
4700 O75019 (LILRA1) R G 12 rs1974982 Benign
4701 O75019 (LILRA1) S G 153 rs10417589 Benign
4702 O75019 (LILRA1) L P 220 rs373854 Benign
4703 O75022 (LILRB3) V M 21 rs1132588 Benign
4704 O75022 (LILRB3) R Q 59 rs678876 Benign
4705 O75022 (LILRB3) L W 69 rs80077296 Benign
4706 O75022 (LILRB3) E Q 90 rs1052963 Benign
4707 O75022 (LILRB3) S N 122 rs200783306 Benign
4708 O75022 (LILRB3) Q H 171 rs557014003 Benign
4709 O75022 (LILRB3) W Q 205 rs1063805 Benign
4710 O75022 (LILRB3) Y F 400 rs8105096 Benign
4711 O75022 (LILRB3) Y H 400 rs1052992 Benign
4712 O75022 (LILRB3) H Y 405 rs1132604 Benign
4713 O75022 (LILRB3) Q H 539 rs1053002 Benign
4714 O75022 (LILRB3) V A 574 rs1053008 Benign
4715 O75023 (LILRB5) D G 247 rs12975366 Benign
4716 O75027 (ABCB7) E D 208 rs515726147 Disease: Anemia, sideroblasti c, spinocerebel lar ataxia (ASAT) [MIM:301310]
4717 O75027 (ABCB7) R G 315 - Benign
4718 O75027 (ABCB7) F I 346 - Benign
4719 O75027 (ABCB7) I M 400 rs72554634 Disease: Anemia, sideroblasti c, spinocerebel lar ataxia (ASAT) [MIM:301310]
4720 O75027 (ABCB7) V L 411 rs80356713 Disease: Anemia, sideroblasti c, spinocerebel lar ataxia (ASAT) [MIM:301310]
4721 O75027 (ABCB7) E K 433 rs80356714 Disease: Anemia, sideroblasti c, spinocerebel lar ataxia (ASAT) [MIM:301310]
4722 O75027 (ABCB7) A V 580 rs1340989 Benign
4723 O75027 (ABCB7) V A 581 rs1340989 Benign
4724 O75030 (MITF) K N 313 rs1057519325 Disease: Coloboma, osteopetrosi s, microphthalm ia, macrocephaly , albinism, and deafness (COMMAD) [MIM:617306]
4725 O75030 (MITF) N K 317 rs104893745 Disease: Tietz albinism- deafness syndrome (TADS) [MIM:103500]
4726 O75030 (MITF) R G 324 rs1057519326 Disease: Coloboma, osteopetrosi s, microphthalm ia, macrocephaly , albinism, and deafness (COMMAD) [MIM:617306]
4727 O75030 (MITF) S P 357 rs104893744 Disease: Waardenburg syndrome 2A (WS2A) [MIM:193510]
4728 O75030 (MITF) N D 385 - Disease: Waardenburg syndrome 2A (WS2A) [MIM:193510]
4729 O75030 (MITF) S P 405 rs104893747 Disease: Waardenburg syndrome 2A (WS2A) [MIM:193510]
4730 O75030 (MITF) E K 425 rs149617956 Disease: Melanoma, cutaneous malignant 8 (CMM8) [MIM:614456]
4731 O75044 (SRGAP2) R G 874 rs17018890 Benign
4732 O75051 (PLXNA2) R Q 5 rs2782948 Benign
4733 O75051 (PLXNA2) Q R 57 rs11119014 Benign
4734 O75051 (PLXNA2) A T 267 rs3748735 Benign
4735 O75051 (PLXNA2) E G 369 rs4844658 Benign
4736 O75051 (PLXNA2) A G 805 rs17011882 Benign
4737 O75051 (PLXNA2) A T 1443 rs12240051 Benign
4738 O75054 (IGSF3) S P 51 rs3965246 Benign
4739 O75054 (IGSF3) D E 1020 rs647711 Benign
4740 O75054 (IGSF3) Q R 1073 rs6703791 Benign
4741 O75056 (SDC3) V I 208 rs2491132 Benign
4742 O75056 (SDC3) D N 303 rs4949184 Benign
4743 O75056 (SDC3) T I 329 rs2282440 Benign
4744 O75061 (DNAJC6) M L 76 rs61757223 Benign
4745 O75061 (DNAJC6) L P 152 - Benign
4746 O75061 (DNAJC6) I V 264 - Benign
4747 O75061 (DNAJC6) C S 441 rs145329294 Benign
4748 O75061 (DNAJC6) R C 562 rs770127313 Benign
4749 O75061 (DNAJC6) S N 671 rs4915691 Benign
4750 O75061 (DNAJC6) R G 870 rs879255630 Disease: Parkinson disease 19B, early-onset (PARK19B) [MIM:615528]
4751 O75071 (EFCAB14) P S 239 - Benign
4752 O75071 (EFCAB14) L P 337 rs6665021 Benign
4753 O75072 (FKTN) R C 56 rs41277797 Benign
4754 O75072 (FKTN) A T 114 rs119463995 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C4 (MDDGC4) [MIM:611588]
4755 O75072 (FKTN) G S 125 rs34006675 Benign
4756 O75072 (FKTN) A E 170 rs119464997 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]
4757 O75072 (FKTN) F S 176 rs119463996 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C4 (MDDGC4) [MIM:611588]
4758 O75072 (FKTN) R T 179 rs119463994 Disease: Cardiomyopat hy, dilated 1X (CMD1X) [MIM:611615]
4759 O75072 (FKTN) R Q 203 rs34787999 Benign
4760 O75072 (FKTN) R G 246 - Disease: Muscular dystrophy-dy stroglycanop athy congenital without mental retardation B4 (MDDGB4) [MIM:613152]
4761 O75072 (FKTN) C G 250 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]
4762 O75072 (FKTN) R Q 307 rs119463992 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C4 (MDDGC4) [MIM:611588]
4763 O75072 (FKTN) Q P 358 rs119463993 Disease: Cardiomyopat hy, dilated 1X (CMD1X) [MIM:611615]
4764 O75072 (FKTN) Y C 371 rs119464998 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]
4765 O75072 (FKTN) N D 446 rs41313301 Benign
4766 O75074 (LRP3) P L 213 rs3745978 Benign
4767 O75074 (LRP3) V A 708 rs3745974 Benign
4768 O75081 (CBFA2T3) E G 429 rs1053526 Benign
4769 O75083 (WDR1) I V 185 rs13441 Benign
4770 O75084 (FZD7) G D 24 rs35111363 Benign
4771 O75084 (FZD7) G S 24 rs755615030 Benign
4772 O75084 (FZD7) G E 196 rs34908164 Benign
4773 O75084 (FZD7) A V 487 rs35600847 Benign
4774 O75093 (SLIT1) P L 824 rs2817673 Benign
4775 O75094 (SLIT3) V A 371 rs891921 Benign
4776 O75094 (SLIT3) R Q 395 rs2288792 Benign
4777 O75094 (SLIT3) G S 618 rs10036727 Benign
4778 O75094 (SLIT3) R Q 810 rs36052924 Benign
4779 O75094 (SLIT3) E G 994 rs2305993 Benign
4780 O75094 (SLIT3) P A 1064 rs10072243 Benign
4781 O75095 (MEGF6) M T 115 rs7513275 Benign
4782 O75095 (MEGF6) S G 131 rs2794340 Benign
4783 O75095 (MEGF6) A V 313 rs11585362 Benign
4784 O75095 (MEGF6) P L 587 rs947345 Benign
4785 O75095 (MEGF6) L P 688 rs2821008 Benign
4786 O75095 (MEGF6) R L 916 rs7553399 Benign
4787 O75095 (MEGF6) G A 1137 rs4648506 Benign
4788 O75095 (MEGF6) R H 1287 rs57804877 Benign
4789 O75095 (MEGF6) G S 1536 rs57484147 Benign
4790 O75096 (LRP4) D N 137 rs267607222 Disease: Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
4791 O75096 (LRP4) C Y 160 rs267607221 Disease: Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
4792 O75096 (LRP4) L S 314 rs7926667 Benign
4793 O75096 (LRP4) D N 449 rs267607224 Disease: Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
4794 O75096 (LRP4) T P 461 rs267607223 Disease: Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
4795 O75096 (LRP4) L F 473 - Disease: Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
4796 O75096 (LRP4) D N 529 rs267607220 Disease: Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
4797 O75096 (LRP4) C R 1017 - Disease: Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
4798 O75096 (LRP4) I V 1086 rs6485702 Benign
4799 O75096 (LRP4) R W 1170 rs387906884 Disease: Sclerosteosi s 2 (SOST2) [MIM:614305]
4800 O75096 (LRP4) W S 1186 rs387906883 Disease: Sclerosteosi s 2 (SOST2) [MIM:614305]
4801 O75096 (LRP4) A V 1203 rs2306033 Benign
4802 O75096 (LRP4) E K 1233 rs786205153 Disease: Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304]
4803 O75096 (LRP4) A T 1238 rs2306031 Benign
4804 O75096 (LRP4) R H 1277 rs746136135 Disease: Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304]
4805 O75096 (LRP4) S G 1554 rs2306029 Benign
4806 O75096 (LRP4) R Q 1646 rs3816614 Benign
4807 O75106 (AOC2) I V 5 rs34230945 Benign
4808 O75106 (AOC2) Y C 22 rs34435306 Benign
4809 O75106 (AOC2) P L 141 rs35833794 Benign
4810 O75106 (AOC2) R Q 273 rs35508987 Benign
4811 O75106 (AOC2) E D 427 rs34351794 Benign
4812 O75112 (LDB3) V I 55 rs3740343 Benign
4813 O75112 (LDB3) P L 101 rs45592139 Benign
4814 O75112 (LDB3) S L 189 rs45487699 Disease: Cardiomyopat hy, dilated 1C, with or without left ventricular non- compaction (CMD1C) [MIM:601493]
4815 O75112 (LDB3) T I 206 rs121908337 Disease: Cardiomyopat hy, dilated 1C, with or without left ventricular non- compaction (CMD1C) [MIM:601493]
4816 O75112 (LDB3) I M 345 rs121908336 Disease: Cardiomyopat hy, dilated 1C, with or without left ventricular non- compaction (CMD1C) [MIM:601493]
4817 O75112 (LDB3) V I 635 rs45618633 Benign
4818 O75112 (LDB3) D N 673 rs45514002 Disease: Cardiomyopat hy, dilated 1C, with or without left ventricular non- compaction (CMD1C) [MIM:601493]
4819 O75116 (ROCK2) T N 431 rs2230774 Benign
4820 O75116 (ROCK2) D V 601 rs35768389 Benign
4821 O75116 (ROCK2) K M 1083 rs34945852 Benign
4822 O75123 (ZNF623) D N 126 rs4874084 Benign
4823 O75127 (PTCD1) P L 356 rs34714513 Benign
4824 O75127 (PTCD1) V G 620 rs35633728 Benign
4825 O75128 (COBL) P L 526 rs17656599 Benign
4826 O75128 (COBL) D A 577 rs10230120 Benign
4827 O75128 (COBL) V I 607 rs2240090 Benign
4828 O75128 (COBL) H Q 919 rs2240089 Benign
4829 O75128 (COBL) D N 927 rs17134128 Benign
4830 O75128 (COBL) A P 1015 rs17134127 Benign
4831 O75129 (ASTN2) V I 70 rs16933591 Benign
4832 O75129 (ASTN2) R H 865 rs3818503 Benign
4833 O75129 (ASTN2) V I 1149 rs16933591 Benign
4834 O75131 (CPNE3) E D 252 rs41333046 Benign
4835 O75131 (CPNE3) T M 412 rs2304789 Benign
4836 O75132 (ZBED4) I V 420 rs910799 Benign
4837 O75140 (DEPDC5) V I 90 rs768456731 Disease: Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
4838 O75140 (DEPDC5) V L 272 rs187334123 Disease: Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
4839 O75140 (DEPDC5) A V 452 rs202226316 Disease: Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
4840 O75140 (DEPDC5) R Q 485 rs886039278 Disease: Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
4841 O75140 (DEPDC5) S T 491 rs8138516 Benign
4842 O75140 (DEPDC5) A V 641 rs16989528 Benign
4843 O75140 (DEPDC5) S F 712 rs16989535 Benign
4844 O75140 (DEPDC5) T M 864 rs564667614 Disease: Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
4845 O75140 (DEPDC5) S R 1073 rs754608531 Disease: Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
4846 O75140 (DEPDC5) S L 1104 rs79027628 Disease: Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
4847 O75140 (DEPDC5) S G 1162 rs886039280 Disease: Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
4848 O75144 (ICOSLG) V I 128 rs11558819 Benign
4849 O75145 (PPFIA3) A S 563 rs2303053 Benign
4850 O75146 (HIP1R) N S 345 rs149504879 Benign
4851 O75146 (HIP1R) K Q 404 rs7972242 Benign
4852 O75146 (HIP1R) K Q 516 rs7972242 Benign
4853 O75146 (HIP1R) V M 782 rs2271051 Benign
4854 O75146 (HIP1R) N S 943 rs3736414 Benign
4855 O75150 (RNF40) R H 463 rs11556801 Benign
4856 O75150 (RNF40) R Q 615 rs7195142 Benign
4857 O75151 (PHF2) T P 56 rs34279404 Benign
4858 O75151 (PHF2) S L 1058 rs35236745 Benign
4859 O75152 (ZC3H11A) T N 640 rs11240604 Benign
4860 O75153 (CLUH) A V 633 rs11078312 Benign
4861 O75155 (CAND2) Q R 408 rs2305398 Benign
4862 O75155 (CAND2) P L 476 rs2305397 Benign
4863 O75155 (CAND2) S P 533 rs3732675 Benign
4864 O75155 (CAND2) H R 655 rs9838943 Benign
4865 O75155 (CAND2) L F 845 rs17037287 Benign
4866 O75155 (CAND2) H P 858 rs3732678 Benign
4867 O75155 (CAND2) V I 990 rs3817121 Benign
4868 O75155 (CAND2) A T 1225 rs12629133 Benign
4869 O75157 (TSC22D2) A T 419 rs879634 Benign
4870 O75161 (NPHP4) D Y 3 rs145078518 Disease: Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
4871 O75161 (NPHP4) T M 29 rs12142270 Benign
4872 O75161 (NPHP4) F L 91 rs201065230 Disease: Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
4873 O75161 (NPHP4) T M 315 rs200684272 Benign
4874 O75161 (NPHP4) R C 342 rs190940697 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4875 O75161 (NPHP4) R W 469 rs758253306 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4876 O75161 (NPHP4) A G 544 rs12093500 Benign
4877 O75161 (NPHP4) E K 618 rs571655 Benign
4878 O75161 (NPHP4) T M 627 rs199891059 Disease: Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
4879 O75161 (NPHP4) A G 654 - Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4880 O75161 (NPHP4) R W 735 rs191913664 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4881 O75161 (NPHP4) R H 740 rs34248917 Benign
4882 O75161 (NPHP4) G R 754 rs373962831 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4883 O75161 (NPHP4) V I 765 rs149244006 Benign
4884 O75161 (NPHP4) Q R 766 - Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4885 O75161 (NPHP4) P R 776 rs201527181 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4886 O75161 (NPHP4) H Q 782 rs1433852047 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4887 O75161 (NPHP4) R W 848 rs17472401 Benign
4888 O75161 (NPHP4) L Q 939 rs1287637 Benign
4889 O75161 (NPHP4) T A 946 - Disease: Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
4890 O75161 (NPHP4) R Q 959 rs12084067 Benign
4891 O75161 (NPHP4) R H 961 rs183885357 Benign
4892 O75161 (NPHP4) F S 991 rs28940891 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4893 O75161 (NPHP4) R H 1044 rs375819124 Benign
4894 O75161 (NPHP4) A T 1098 rs41280798 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4895 O75161 (NPHP4) R W 1192 rs139022622 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4896 O75161 (NPHP4) T M 1225 rs144624477 Disease: Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
4897 O75161 (NPHP4) V M 1236 rs781049266 Benign
4898 O75161 (NPHP4) R C 1284 rs779755743 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4899 O75161 (NPHP4) Q E 1287 rs201779243 Disease: Nephronophth isis 4 (NPHP4) [MIM:606966]
4900 O75164 (KDM4A) A E 482 rs586339 Benign
4901 O75164 (KDM4A) V G 877 rs12759032 Benign
4902 O75165 (DNAJC13) E Q 264 - Benign
4903 O75165 (DNAJC13) L S 556 rs749000301 Benign
4904 O75165 (DNAJC13) D A 674 rs199541720 Benign
4905 O75165 (DNAJC13) R K 903 rs141952333 Benign
4906 O75165 (DNAJC13) L F 997 rs752189478 Benign
4907 O75165 (DNAJC13) T I 1082 rs202127368 Benign
4908 O75165 (DNAJC13) N S 1135 rs751747947 Benign
4909 O75165 (DNAJC13) E G 1291 rs61748101 Benign
4910 O75165 (DNAJC13) A S 1463 rs3762672 Benign
4911 O75165 (DNAJC13) F C 1487 rs4405917 Benign
4912 O75165 (DNAJC13) P S 1515 rs55825559 Benign
4913 O75165 (DNAJC13) R H 1516 rs139620588 Benign
4914 O75165 (DNAJC13) E Q 1740 rs142160751 Benign
4915 O75165 (DNAJC13) V I 1995 rs10935014 Benign
4916 O75165 (DNAJC13) A S 2057 rs138693725 Benign
4917 O75165 (DNAJC13) R L 2115 rs770715465 Benign
4918 O75165 (DNAJC13) L W 2170 rs140537885 Benign
4919 O75167 (PHACTR2) P S 165 rs2073214 Benign
4920 O75167 (PHACTR2) I V 449 rs2295201 Benign
4921 O75170 (PPP6R2) D E 633 rs11555194 Benign
4922 O75170 (PPP6R2) R K 732 rs13057311 Benign
4923 O75173 (ADAMTS4) T I 4 rs17855814 Benign
4924 O75173 (ADAMTS4) A T 77 rs34448954 Benign
4925 O75173 (ADAMTS4) D N 304 rs17855813 Benign
4926 O75173 (ADAMTS4) M V 369 rs17855812 Benign
4927 O75173 (ADAMTS4) P T 552 rs17855815 Benign
4928 O75173 (ADAMTS4) T A 564 rs17855816 Benign
4929 O75173 (ADAMTS4) Q R 626 rs4233367 Benign
4930 O75173 (ADAMTS4) R K 836 rs11807350 Benign
4931 O75175 (CNOT3) E Q 20 - Disease: Intellectual developmenta l disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672]
4932 O75175 (CNOT3) L V 48 - Disease: Intellectual developmenta l disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672]
4933 O75175 (CNOT3) R C 188 - Disease: Intellectual developmenta l disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672]
4934 O75175 (CNOT3) R H 188 - Disease: Intellectual developmenta l disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672]
4935 O75177 (SS18L1) M I 189 rs17853304 Benign
4936 O75177 (SS18L1) A T 321 rs36106901 Benign
4937 O75179 (ANKRD17) H Y 2560 rs2306059 Benign
4938 O75185 (ATP2C2) L M 165 rs247818 Benign
4939 O75185 (ATP2C2) G S 411 rs2303853 Benign
4940 O75185 (ATP2C2) M L 466 rs247897 Benign
4941 O75185 (ATP2C2) L Q 604 rs62640926 Benign
4942 O75185 (ATP2C2) L P 907 rs16973859 Benign
4943 O75190 (DNAJB6) F I 89 rs387907150 Disease: Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511]
4944 O75190 (DNAJB6) F L 93 rs387907046 Disease: Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511]
4945 O75190 (DNAJB6) P R 96 rs387907047 Disease: Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511]
4946 O75191 (XYLB) D E 85 rs17118 Benign
4947 O75191 (XYLB) D N 133 rs2234610 Benign
4948 O75191 (XYLB) D E 139 rs151611 Benign
4949 O75191 (XYLB) Y N 262 rs196380 Benign
4950 O75191 (XYLB) N D 348 rs2234622 Benign
4951 O75197 (LRP5) Q R 89 rs41494349 Benign
4952 O75197 (LRP5) A V 97 rs143433231 Benign
4953 O75197 (LRP5) D Y 111 - Disease: Osteopetrosi s, autosomal dominant 1 (OPTA1) [MIM:607634]
4954 O75197 (LRP5) L F 145 rs80358305 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4955 O75197 (LRP5) R M 154 - Disease: High bone mass trait (HBM) [MIM:601884]
4956 O75197 (LRP5) G R 171 rs121908669 Disease: Osteopetrosi s, autosomal dominant 1 (OPTA1) [MIM:607634]
4957 O75197 (LRP5) G V 171 rs121908668 Disease: High bone mass trait (HBM) [MIM:601884]
4958 O75197 (LRP5) T M 173 rs80358306 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4959 O75197 (LRP5) D N 203 rs760548029 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4960 O75197 (LRP5) A T 214 rs121908671 Disease: Endosteal hyperostosis , Worth type (WENHY) [MIM:144750]
4961 O75197 (LRP5) A V 214 rs121908672 Disease: Endosteal hyperostosis , Worth type (WENHY) [MIM:144750]
4962 O75197 (LRP5) A T 242 rs121908670 Disease: Van Buchem disease 2 (VBCH2) [MIM:607636]
4963 O75197 (LRP5) T M 244 rs397514665 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4964 O75197 (LRP5) T I 253 rs121908673 Disease: Osteopetrosi s, autosomal dominant 1 (OPTA1) [MIM:607634]
4965 O75197 (LRP5) S F 307 rs1219101402 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4966 O75197 (LRP5) R W 348 rs1320065036 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
4967 O75197 (LRP5) R Q 353 - Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4968 O75197 (LRP5) S L 356 rs1158745675 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4969 O75197 (LRP5) D N 381 rs1332274863 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
4970 O75197 (LRP5) T K 390 - Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4971 O75197 (LRP5) A E 400 rs201320326 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4972 O75197 (LRP5) G R 404 rs750791263 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4973 O75197 (LRP5) T A 409 rs1273567061 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4974 O75197 (LRP5) A T 422 rs774342727 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4975 O75197 (LRP5) D N 434 rs757888034 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4976 O75197 (LRP5) E K 441 rs376152274 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4977 O75197 (LRP5) R C 444 rs80358308 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4978 O75197 (LRP5) S L 455 rs930355318 Benign
4979 O75197 (LRP5) E K 460 rs866606166 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4980 O75197 (LRP5) W R 478 rs1318906451 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4981 O75197 (LRP5) R Q 494 rs121908664 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4982 O75197 (LRP5) W C 504 rs545508982 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4983 O75197 (LRP5) D A 511 rs1245625202 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4984 O75197 (LRP5) G V 520 - Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4985 O75197 (LRP5) A T 522 rs80358309 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4986 O75197 (LRP5) N I 531 - Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4987 O75197 (LRP5) T M 535 rs80358310 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4988 O75197 (LRP5) L P 540 - Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4989 O75197 (LRP5) G R 550 rs80358311 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4990 O75197 (LRP5) R Q 570 rs80358312 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4991 O75197 (LRP5) R W 570 rs121908665 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4992 O75197 (LRP5) G R 610 rs80358313 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4993 O75197 (LRP5) F C 617 rs80358314 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4994 O75197 (LRP5) R W 624 rs989864153 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
4995 O75197 (LRP5) V M 667 rs4988321 Benign
4996 O75197 (LRP5) D N 683 rs1470530779 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4997 O75197 (LRP5) Y H 733 rs746701187 Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770]
4998 O75197 (LRP5) R G 752 rs121908674 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
4999 O75197 (LRP5) T A 798 rs80358316 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]
5000 O75197 (LRP5) R W 805 rs765952535 Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813]

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