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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]
50001 Q8IWV8 (UBR2) A P 1095 rs6917033 Benign
50002 Q8IWV8 (UBR2) A S 1095 rs6917033 Benign
50003 Q8IWV8 (UBR2) A T 1095 rs6917033 Benign
50004 Q8IWW6 (ARHGAP12) F S 442 rs2808096 Benign
50005 Q8IWW8 (ADHFE1) C R 449 rs1060242 Benign
50006 Q8IWX7 (UNC45B) V I 60 rs16970659 Benign
50007 Q8IWX7 (UNC45B) A V 199 rs35749208 Benign
50008 Q8IWX7 (UNC45B) K R 377 rs41389545 Benign
50009 Q8IWX7 (UNC45B) R W 805 rs370424081 Disease: Cataract 43 (CTRCT43) [MIM:616279]
50010 Q8IWX7 (UNC45B) I N 852 rs11654824 Benign
50011 Q8IWX8 (CHERP) N H 199 rs1043448 Benign
50012 Q8IWY4 (SCUBE1) G R 398 rs129415 Benign
50013 Q8IWY4 (SCUBE1) S P 648 rs138993 Benign
50014 Q8IWY8 (ZSCAN29) R G 104 rs3809482 Benign
50015 Q8IWY8 (ZSCAN29) G S 199 rs3917221 Benign
50016 Q8IWY9 (CDAN1) Q L 107 rs4265781 Benign
50017 Q8IWY9 (CDAN1) Q R 596 rs12917189 Benign
50018 Q8IWY9 (CDAN1) N S 599 rs120074166 Disease: Anemia, congenital dyserythropo ietic, 1A (CDAN1A) [MIM:224120]
50019 Q8IWY9 (CDAN1) P L 672 rs120074167 Disease: Anemia, congenital dyserythropo ietic, 1A (CDAN1A) [MIM:224120]
50020 Q8IWY9 (CDAN1) E K 698 - Disease: Anemia, congenital dyserythropo ietic, 1A (CDAN1A) [MIM:224120]
50021 Q8IWY9 (CDAN1) R W 714 rs80338696 Disease: Anemia, congenital dyserythropo ietic, 1A (CDAN1A) [MIM:224120]
50022 Q8IWY9 (CDAN1) F I 868 rs120074168 Disease: Anemia, congenital dyserythropo ietic, 1A (CDAN1A) [MIM:224120]
50023 Q8IWY9 (CDAN1) V M 869 rs370895637 Disease: Anemia, congenital dyserythropo ietic, 1A (CDAN1A) [MIM:224120]
50024 Q8IWY9 (CDAN1) R C 891 rs8023524 Benign
50025 Q8IWY9 (CDAN1) R W 1042 rs80338697 Disease: Anemia, congenital dyserythropo ietic, 1A (CDAN1A) [MIM:224120]
50026 Q8IWY9 (CDAN1) D V 1043 rs80338698 Disease: Anemia, congenital dyserythropo ietic, 1A (CDAN1A) [MIM:224120]
50027 Q8IWY9 (CDAN1) P L 1130 rs80338699 Disease: Anemia, congenital dyserythropo ietic, 1A (CDAN1A) [MIM:224120]
50028 Q8IWZ3 (ANKHD1) L M 175 rs17850570 Benign
50029 Q8IWZ3 (ANKHD1) G C 228 rs17850572 Benign
50030 Q8IWZ3 (ANKHD1) G S 1586 rs1051309 Benign
50031 Q8IWZ3 (ANKHD1) N S 1760 rs3752704 Benign
50032 Q8IWZ5 (TRIM42) K R 244 rs698673 Benign
50033 Q8IWZ5 (TRIM42) V M 475 rs28594654 Benign
50034 Q8IWZ5 (TRIM42) A E 579 rs9876490 Benign
50035 Q8IWZ6 (BBS7) G R 63 rs754579374 Disease: Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]
50036 Q8IWZ6 (BBS7) I F 66 - Disease: Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]
50037 Q8IWZ6 (BBS7) T I 211 rs119466002 Disease: Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]
50038 Q8IWZ6 (BBS7) Q P 293 rs889417696 Benign
50039 Q8IWZ6 (BBS7) H R 323 rs119466001 Disease: Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]
50040 Q8IWZ6 (BBS7) Y C 671 rs1013002037 Benign
50041 Q8IWZ8 (SUGP1) R H 290 rs17751061 Benign
50042 Q8IWZ8 (SUGP1) Q H 568 rs1044980 Benign
50043 Q8IX01 (SUGP2) G S 206 rs4808907 Benign
50044 Q8IX01 (SUGP2) M T 552 rs10404860 Benign
50045 Q8IX01 (SUGP2) Q R 649 rs10414535 Benign
50046 Q8IX01 (SUGP2) Q R 722 rs34540303 Benign
50047 Q8IX01 (SUGP2) R Q 881 rs35646935 Benign
50048 Q8IX03 (WWC1) R C 250 rs17551608 Benign
50049 Q8IX03 (WWC1) M I 734 rs3822660 Benign
50050 Q8IX03 (WWC1) S A 735 rs3822659 Benign
50051 Q8IX05 (CD302) R S 200 rs34068933 Benign
50052 Q8IX07 (ZFPM1) G A 70 rs34916016 Benign
50053 Q8IX12 (CCAR1) T I 588 rs1782338 Benign
50054 Q8IX12 (CCAR1) E G 681 rs1060145 Benign
50055 Q8IX12 (CCAR1) M V 747 rs11542602 Benign
50056 Q8IX15 (HOMEZ) A T 278 rs10131813 Benign
50057 Q8IX19 (MCEMP1) V I 129 rs8111596 Benign
50058 Q8IX19 (MCEMP1) I V 167 rs72996468 Benign
50059 Q8IX19 (MCEMP1) L V 175 rs10409343 Benign
50060 Q8IX21 (SLF2) S Y 541 rs10883563 Benign
50061 Q8IX29 (FBXO16) R Q 75 rs3735726 Benign
50062 Q8IX29 (FBXO16) M I 254 rs1390963 Benign
50063 Q8IX29 (FBXO16) T N 255 rs7016831 Benign
50064 Q8IX30 (SCUBE3) S L 410 rs3800381 Benign
50065 Q8IX90 (SKA3) V I 58 rs11546983 Benign
50066 Q8IX90 (SKA3) T A 254 rs17345690 Benign
50067 Q8IX90 (SKA3) D E 335 rs17279819 Benign
50068 Q8IXA5 (SPACA3) C Y 80 rs16967845 Benign
50069 Q8IXA5 (SPACA3) H R 100 rs28963 Benign
50070 Q8IXA5 (SPACA3) A T 128 rs35420663 Benign
50071 Q8IXB1 (DNAJC10) D N 76 rs6729801 Benign
50072 Q8IXB1 (DNAJC10) L I 347 rs13414223 Benign
50073 Q8IXB1 (DNAJC10) Y C 414 rs11681366 Benign
50074 Q8IXB1 (DNAJC10) H Q 646 rs288334 Benign
50075 Q8IXB3 (TRARG1) H Y 3 rs75616699 Benign
50076 Q8IXB3 (TRARG1) P S 15 rs111587833 Benign
50077 Q8IXB3 (TRARG1) A T 18 rs111701043 Benign
50078 Q8IXB3 (TRARG1) F S 20 rs6502774 Benign
50079 Q8IXB3 (TRARG1) E D 34 rs75025906 Benign
50080 Q8IXB3 (TRARG1) S G 57 rs6502776 Benign
50081 Q8IXE1 (OR4N5) N D 191 rs10131326 Benign
50082 Q8IXE1 (OR4N5) S T 234 rs10140908 Benign
50083 Q8IXE1 (OR4N5) C R 260 rs10134472 Benign
50084 Q8IXE1 (OR4N5) R H 290 rs10141025 Benign
50085 Q8IXH8 (CDH26) I T 144 rs6015609 Benign
50086 Q8IXH8 (CDH26) R G 301 rs11086690 Benign
50087 Q8IXH8 (CDH26) V A 448 rs34866303 Benign
50088 Q8IXH8 (CDH26) P L 479 rs6071067 Benign
50089 Q8IXH8 (CDH26) V L 615 rs194998 Benign
50090 Q8IXI1 (RHOT2) R Q 245 rs1139897 Benign
50091 Q8IXI1 (RHOT2) R C 425 rs3177338 Benign
50092 Q8IXJ9 (ASXL1) V I 751 rs6058693 Benign
50093 Q8IXJ9 (ASXL1) P L 815 rs6058694 Benign
50094 Q8IXJ9 (ASXL1) L R 983 rs34359205 Benign
50095 Q8IXJ9 (ASXL1) L F 1325 rs6057581 Benign
50096 Q8IXK0 (PHC2) P S 254 rs10914692 Benign
50097 Q8IXK0 (PHC2) V M 475 rs12026290 Benign
50098 Q8IXK2 (GALNT12) G E 3 rs1356894484 Benign
50099 Q8IXK2 (GALNT12) G R 46 rs10987768 Benign
50100 Q8IXK2 (GALNT12) E V 119 rs1137654 Benign
50101 Q8IXK2 (GALNT12) D N 261 rs41306504 Benign
50102 Q8IXK2 (GALNT12) G R 272 rs367645298 Benign
50103 Q8IXK2 (GALNT12) R W 297 rs149726976 Disease: Colorectal cancer 1 (CRCS1) [MIM:608812]
50104 Q8IXK2 (GALNT12) D N 303 rs145236923 Disease: Colorectal cancer 1 (CRCS1) [MIM:608812]
50105 Q8IXK2 (GALNT12) E D 341 - Disease: Colorectal cancer 1 (CRCS1) [MIM:608812]
50106 Q8IXK2 (GALNT12) R H 373 rs920049418 Disease: Colorectal cancer 1 (CRCS1) [MIM:608812]
50107 Q8IXK2 (GALNT12) R H 382 rs868590153 Disease: Colorectal cancer 1 (CRCS1) [MIM:608812]
50108 Q8IXK2 (GALNT12) Y C 396 rs1272530441 Disease: Colorectal cancer 1 (CRCS1) [MIM:608812]
50109 Q8IXK2 (GALNT12) C F 479 - Disease: Colorectal cancer 1 (CRCS1) [MIM:608812]
50110 Q8IXK2 (GALNT12) T M 491 rs267606840 Disease: Colorectal cancer 1 (CRCS1) [MIM:608812]
50111 Q8IXK2 (GALNT12) R K 552 rs1285871027 Benign
50112 Q8IXL6 (FAM20C) I N 258 - Disease: Raine syndrome (RNS) [MIM:259775]
50113 Q8IXL6 (FAM20C) T M 268 rs778899041 Disease: Raine syndrome (RNS) [MIM:259775]
50114 Q8IXL6 (FAM20C) G R 280 rs779708323 Disease: Raine syndrome (RNS) [MIM:259775]
50115 Q8IXL6 (FAM20C) P S 328 rs797044462 Disease: Raine syndrome (RNS) [MIM:259775]
50116 Q8IXL6 (FAM20C) G E 379 rs796051852 Disease: Raine syndrome (RNS) [MIM:259775]
50117 Q8IXL6 (FAM20C) G R 379 - Disease: Raine syndrome (RNS) [MIM:259775]
50118 Q8IXL6 (FAM20C) L R 388 rs796051849 Disease: Raine syndrome (RNS) [MIM:259775]
50119 Q8IXL6 (FAM20C) D N 451 - Disease: Raine syndrome (RNS) [MIM:259775]
50120 Q8IXL6 (FAM20C) R W 549 rs796051850 Disease: Raine syndrome (RNS) [MIM:259775]
50121 Q8IXL7 (MSRB3) C G 89 rs387907088 Disease: Deafness, autosomal recessive, 74 (DFNB74) [MIM:613718]
50122 Q8IXM7 (ODF3L1) P L 41 rs55905564 Benign
50123 Q8IXQ5 (KLHL7) S N 150 rs137853112 Disease: Retinitis pigmentosa 42 (RP42) [MIM:612943]
50124 Q8IXQ5 (KLHL7) A T 153 rs137853114 Disease: Retinitis pigmentosa 42 (RP42) [MIM:612943]
50125 Q8IXQ5 (KLHL7) A V 153 rs137853113 Disease: Retinitis pigmentosa 42 (RP42) [MIM:612943]
50126 Q8IXQ5 (KLHL7) R Q 372 rs879255558 Disease: Crisponi /Cold- induced sweating syndrome 3 (CISS3) [MIM:617055]
50127 Q8IXQ5 (KLHL7) R C 420 rs780705654 Disease: Crisponi /Cold- induced sweating syndrome 3 (CISS3) [MIM:617055]
50128 Q8IXQ5 (KLHL7) C S 421 rs879255556 Disease: Crisponi /Cold- induced sweating syndrome 3 (CISS3) [MIM:617055]
50129 Q8IXQ5 (KLHL7) H Y 423 - Benign
50130 Q8IXQ6 (PARP9) S L 21 rs34006803 Benign
50131 Q8IXQ6 (PARP9) I V 517 rs28365795 Benign
50132 Q8IXQ6 (PARP9) Y C 528 rs9851180 Benign
50133 Q8IXQ6 (PARP9) T A 651 rs6780543 Benign
50134 Q8IXR5 (FAM178B) R C 645 rs34013660 Benign
50135 Q8IXS0 (FAM217A) A T 258 rs639905 Benign
50136 Q8IXS0 (FAM217A) Q P 309 rs10080405 Benign
50137 Q8IXS0 (FAM217A) C S 360 rs17137618 Benign
50138 Q8IXS0 (FAM217A) V I 431 rs595413 Benign
50139 Q8IXS0 (FAM217A) M V 442 rs10485172 Benign
50140 Q8IXS2 (CCDC65) H R 133 rs10747556 Benign
50141 Q8IXS2 (CCDC65) Y C 408 rs4760600 Benign
50142 Q8IXT1 (DDIAS) I T 217 rs17853911 Benign
50143 Q8IXT1 (DDIAS) R S 460 rs7947780 Benign
50144 Q8IXT1 (DDIAS) D N 757 rs35711622 Benign
50145 Q8IXT1 (DDIAS) P R 795 rs11826199 Benign
50146 Q8IXT1 (DDIAS) V I 842 rs7130899 Benign
50147 Q8IXT5 (RBM12B) S F 250 rs17853906 Benign
50148 Q8IXT5 (RBM12B) R C 605 rs17857188 Benign
50149 Q8IXT5 (RBM12B) N H 864 rs16916188 Benign
50150 Q8IXW0 (LMNTD2) A T 44 rs2061586 Benign
50151 Q8IXX5 (TMEM183A) R M 10 rs11558253 Benign
50152 Q8IXX5 (TMEM183A) A T 80 rs6678040 Benign
50153 Q8IXY8 (PPIL6) H R 110 rs9398200 Benign
50154 Q8IXZ2 (ZC3H3) I M 6 rs2242093 Benign
50155 Q8IXZ2 (ZC3H3) Q R 102 rs17857167 Benign
50156 Q8IXZ2 (ZC3H3) F Y 149 rs3750206 Benign
50157 Q8IXZ2 (ZC3H3) E D 151 rs3750207 Benign
50158 Q8IXZ2 (ZC3H3) E K 165 rs17853852 Benign
50159 Q8IXZ2 (ZC3H3) R W 168 rs3750208 Benign
50160 Q8IXZ2 (ZC3H3) A S 228 rs4873802 Benign
50161 Q8IXZ2 (ZC3H3) P A 231 rs17853853 Benign
50162 Q8IXZ2 (ZC3H3) P L 351 rs34674128 Benign
50163 Q8IXZ2 (ZC3H3) S G 399 rs1318196 Benign
50164 Q8IXZ2 (ZC3H3) P L 415 rs36008851 Benign
50165 Q8IXZ2 (ZC3H3) S G 452 rs4874147 Benign
50166 Q8IXZ2 (ZC3H3) T K 503 rs11548254 Benign
50167 Q8IXZ2 (ZC3H3) R H 578 rs17855618 Benign
50168 Q8IXZ2 (ZC3H3) R W 636 rs17857164 Benign
50169 Q8IXZ2 (ZC3H3) P R 727 rs17857168 Benign
50170 Q8IY17 (PNPLA6) V I 263 rs587777184 Disease: Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
50171 Q8IY17 (PNPLA6) A P 412 rs17854645 Benign
50172 Q8IY17 (PNPLA6) G W 578 rs587777615 Disease: Boucher- Neuhauser syndrome (BNHS) [MIM:215470]
50173 Q8IY17 (PNPLA6) G R 726 - Disease: Laurence- Moon syndrome (LNMS) [MIM:245800]
50174 Q8IY17 (PNPLA6) G E 840 rs587777185 Disease: Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
50175 Q8IY17 (PNPLA6) R H 938 rs121434416 Disease: Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
50176 Q8IY17 (PNPLA6) K R 1033 rs17854647 Benign
50177 Q8IY17 (PNPLA6) S L 1045 rs541098659 Disease: Boucher- Neuhauser syndrome (BNHS) [MIM:215470]
50178 Q8IY17 (PNPLA6) T I 1058 rs587777181 Disease: Boucher- Neuhauser syndrome (BNHS) [MIM:215470]
50179 Q8IY17 (PNPLA6) M V 1060 rs121434415 Disease: Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
50180 Q8IY17 (PNPLA6) F S 1066 rs587777183 Disease: Boucher- Neuhauser syndrome (BNHS) [MIM:215470]
50181 Q8IY17 (PNPLA6) R Q 1099 rs786201037 Disease: Oliver- McFarlane syndrome (OMCS) [MIM:275400]
50182 Q8IY17 (PNPLA6) V M 1110 rs587777182 Disease: Boucher- Neuhauser syndrome (BNHS) [MIM:215470]
50183 Q8IY17 (PNPLA6) P L 1122 rs748506175 Disease: Boucher- Neuhauser syndrome (BNHS) [MIM:215470]
50184 Q8IY17 (PNPLA6) G R 1129 rs773955314 Disease: Oliver- McFarlane syndrome (OMCS) [MIM:275400]
50185 Q8IY17 (PNPLA6) R C 1147 rs587777854 Disease: Boucher- Neuhauser syndrome (BNHS) [MIM:215470]
50186 Q8IY17 (PNPLA6) S C 1175 - Disease: Boucher- Neuhauser syndrome (BNHS) [MIM:215470]
50187 Q8IY17 (PNPLA6) G S 1176 rs142422525 Disease: Oliver- McFarlane syndrome (OMCS) [MIM:275400]
50188 Q8IY17 (PNPLA6) V A 1215 rs1211079280 Disease: Oliver- McFarlane syndrome (OMCS) [MIM:275400]
50189 Q8IY17 (PNPLA6) R W 1359 rs374434303 Disease: Boucher- Neuhauser syndrome (BNHS) [MIM:215470]
50190 Q8IY18 (SMC5) V I 306 rs1180116 Benign
50191 Q8IY18 (SMC5) C R 308 rs1180117 Benign
50192 Q8IY18 (SMC5) H R 682 rs11142365 Benign
50193 Q8IY21 (DDX60) V M 672 rs550625 Benign
50194 Q8IY21 (DDX60) I V 998 rs576619 Benign
50195 Q8IY26 (PLPP6) S G 7 rs34250374 Benign
50196 Q8IY26 (PLPP6) M T 8 rs35791393 Benign
50197 Q8IY26 (PLPP6) S W 140 rs17857157 Benign
50198 Q8IY33 (MICALL2) A P 480 rs12540098 Benign
50199 Q8IY33 (MICALL2) P L 519 rs4075307 Benign
50200 Q8IY33 (MICALL2) K R 623 rs61287564 Benign
50201 Q8IY33 (MICALL2) L V 711 rs11980797 Benign
50202 Q8IY34 (SLC15A3) I F 349 rs17855607 Benign
50203 Q8IY37 (DHX37) M I 96 rs11558556 Benign
50204 Q8IY37 (DHX37) R Q 458 rs11057939 Benign
50205 Q8IY37 (DHX37) K N 508 rs35165507 Benign
50206 Q8IY37 (DHX37) V I 717 rs35016004 Benign
50207 Q8IY37 (DHX37) S G 869 rs4516060 Benign
50208 Q8IY37 (DHX37) R Q 1081 rs4447263 Benign
50209 Q8IY42 (C4orf19) D E 39 rs6852908 Benign
50210 Q8IY42 (C4orf19) A T 151 rs2973275 Benign
50211 Q8IY42 (C4orf19) E G 274 rs3733500 Benign
50212 Q8IY47 (KBTBD2) Q K 166 rs17853781 Benign
50213 Q8IY47 (KBTBD2) E G 189 rs17854425 Benign
50214 Q8IY47 (KBTBD2) T P 193 rs35477666 Benign
50215 Q8IY47 (KBTBD2) P R 254 rs17857323 Benign
50216 Q8IY47 (KBTBD2) P R 301 rs17857324 Benign
50217 Q8IY47 (KBTBD2) L I 534 rs17854424 Benign
50218 Q8IY47 (KBTBD2) S Y 594 rs17853783 Benign
50219 Q8IY50 (SLC35F3) S C 231 rs17853780 Benign
50220 Q8IY51 (TIGD4) A T 432 rs34432931 Benign
50221 Q8IY51 (TIGD4) I V 439 rs4696354 Benign
50222 Q8IY51 (TIGD4) Q R 489 rs35581576 Benign
50223 Q8IY63 (AMOTL1) P L 847 rs11020968 Benign
50224 Q8IY81 (FTSJ3) Q E 91 rs2584625 Benign
50225 Q8IY81 (FTSJ3) S C 424 rs2727288 Benign
50226 Q8IY82 (DRC7) D N 51 rs55645458 Benign
50227 Q8IY82 (DRC7) L M 120 rs11649000 Benign
50228 Q8IY82 (DRC7) C S 186 rs7196016 Benign
50229 Q8IY82 (DRC7) V E 241 rs58373934 Benign
50230 Q8IY82 (DRC7) P L 433 rs3809611 Benign
50231 Q8IY82 (DRC7) P H 521 rs17853687 Benign
50232 Q8IY82 (DRC7) N K 581 rs2923144 Benign
50233 Q8IY82 (DRC7) C R 766 rs2923147 Benign
50234 Q8IY84 (NIM1K) R W 21 rs55664335 Benign
50235 Q8IY84 (NIM1K) E Q 64 rs55663207 Benign
50236 Q8IY84 (NIM1K) L I 260 rs35659008 Benign
50237 Q8IY84 (NIM1K) M I 320 rs55770078 Benign
50238 Q8IY85 (EFCAB13) I V 279 rs55853213 Benign
50239 Q8IY85 (EFCAB13) V I 312 rs4968318 Benign
50240 Q8IY85 (EFCAB13) M V 617 rs17855599 Benign
50241 Q8IY92 (SLX4) L F 38 rs141167501 Benign
50242 Q8IY92 (SLX4) G W 141 rs137976282 Benign
50243 Q8IY92 (SLX4) V A 197 rs147826749 Benign
50244 Q8IY92 (SLX4) R C 204 rs79842542 Benign
50245 Q8IY92 (SLX4) R Q 237 rs138615800 Benign
50246 Q8IY92 (SLX4) H R 284 - Benign
50247 Q8IY92 (SLX4) P T 378 - Benign
50248 Q8IY92 (SLX4) P T 385 rs115694169 Benign
50249 Q8IY92 (SLX4) M V 386 rs113490934 Benign
50250 Q8IY92 (SLX4) A V 424 rs551823420 Benign
50251 Q8IY92 (SLX4) N K 457 rs74319927 Benign
50252 Q8IY92 (SLX4) K E 458 rs149126845 Benign
50253 Q8IY92 (SLX4) A T 505 - Benign
50254 Q8IY92 (SLX4) S N 506 rs765859186 Benign
50255 Q8IY92 (SLX4) V M 568 rs371825444 Benign
50256 Q8IY92 (SLX4) L P 579 rs772504776 Benign
50257 Q8IY92 (SLX4) L S 671 rs77985244 Benign
50258 Q8IY92 (SLX4) E K 787 rs140600202 Benign
50259 Q8IY92 (SLX4) A V 870 rs149584080 Benign
50260 Q8IY92 (SLX4) V G 894 rs145137472 Benign
50261 Q8IY92 (SLX4) P L 929 rs117707719 Benign
50262 Q8IY92 (SLX4) E Q 942 rs114014006 Benign
50263 Q8IY92 (SLX4) A M 952 rs863224277 Benign
50264 Q8IY92 (SLX4) P L 975 rs114472821 Benign
50265 Q8IY92 (SLX4) Q K 1007 rs138798067 Benign
50266 Q8IY92 (SLX4) R W 1060 rs144273492 Benign
50267 Q8IY92 (SLX4) P L 1122 rs714181 Benign
50268 Q8IY92 (SLX4) S Y 1123 rs144647122 Benign
50269 Q8IY92 (SLX4) A V 1221 rs3827530 Benign
50270 Q8IY92 (SLX4) S F 1271 rs3810813 Benign
50271 Q8IY92 (SLX4) A V 1286 rs149011965 Benign
50272 Q8IY92 (SLX4) V G 1287 - Benign
50273 Q8IY92 (SLX4) S G 1342 rs140051968 Benign
50274 Q8IY92 (SLX4) A T 1367 rs17136464 Benign
50275 Q8IY92 (SLX4) I F 1421 rs141567438 Benign
50276 Q8IY92 (SLX4) T S 1476 rs372321470 Benign
50277 Q8IY92 (SLX4) R W 1550 rs77021998 Benign
50278 Q8IY92 (SLX4) P S 1677 rs7196345 Benign
50279 Q8IY92 (SLX4) A V 1694 rs761226343 Benign
50280 Q8IY92 (SLX4) R C 1814 rs767720336 Benign
50281 Q8IY92 (SLX4) N S 1834 rs111738042 Benign
50282 Q8IYA6 (CKAP2L) L F 19 rs36093393 Benign
50283 Q8IYA6 (CKAP2L) K R 26 rs35593767 Benign
50284 Q8IYA6 (CKAP2L) N S 62 rs17042344 Benign
50285 Q8IYA6 (CKAP2L) T I 104 rs13007595 Benign
50286 Q8IYA6 (CKAP2L) R S 263 rs17042341 Benign
50287 Q8IYA6 (CKAP2L) I V 375 rs6731822 Benign
50288 Q8IYA6 (CKAP2L) P A 379 rs2676126 Benign
50289 Q8IYA6 (CKAP2L) S G 519 rs36046436 Benign
50290 Q8IYA6 (CKAP2L) L S 614 rs3811040 Benign
50291 Q8IYA6 (CKAP2L) E D 706 rs3811039 Benign
50292 Q8IYA7 (MKX) R H 40 rs34439626 Benign
50293 Q8IYA8 (IHO1) D E 440 rs13068038 Benign
50294 Q8IYB3 (SRRM1) R H 170 rs17857102 Benign
50295 Q8IYB5 (SMAP1) A V 212 rs2273566 Benign
50296 Q8IYB7 (DIS3L2) P S 12 rs723044 Benign
50297 Q8IYB7 (DIS3L2) R G 483 rs186865544 Disease: -
50298 Q8IYB7 (DIS3L2) C Y 489 rs387907116 Disease: Perlman syndrome (PRLMNS) [MIM:267000]
50299 Q8IYB7 (DIS3L2) R H 576 rs200386096 Disease: -
50300 Q8IYB8 (SUPV3L1) S F 2 rs33998366 Benign
50301 Q8IYB8 (SUPV3L1) P T 30 rs34596380 Benign
50302 Q8IYB9 (ZNF595) A G 628 rs2006764 Benign
50303 Q8IYD1 (GSPT2) P T 23 rs17855593 Benign
50304 Q8IYD8 (FANCM) S F 175 rs10138997 Benign
50305 Q8IYD8 (FANCM) I M 208 rs45547534 Benign
50306 Q8IYD8 (FANCM) V L 878 rs1367580 Benign
50307 Q8IYD8 (FANCM) P A 1812 rs3736772 Benign
50308 Q8IYD9 (LAS2) R P 147 rs1657907 Benign
50309 Q8IYD9 (LAS2) C F 196 rs16958096 Benign
50310 Q8IYE0 (CCDC146) E Q 263 rs17853516 Benign
50311 Q8IYE0 (CCDC146) N S 345 rs1109968 Benign
50312 Q8IYE0 (CCDC146) I T 466 rs58545343 Benign
50313 Q8IYE1 (CCDC13) R W 25 rs17238798 Benign
50314 Q8IYE1 (CCDC13) E V 375 rs17853515 Benign
50315 Q8IYE1 (CCDC13) S T 547 rs12495805 Benign
50316 Q8IYF1 (ELOA2) R P 179 rs2571028 Benign
50317 Q8IYF1 (ELOA2) C F 254 rs2010834 Benign
50318 Q8IYF1 (ELOA2) A S 403 rs892586 Benign
50319 Q8IYF1 (ELOA2) A T 446 rs3744863 Benign
50320 Q8IYF3 (TEX11) K R 130 rs6525433 Benign
50321 Q8IYF3 (TEX11) M V 171 rs143246552 Disease: Spermatogeni c failure, X-linked, 2 (SPGFX2) [MIM:309120]
50322 Q8IYF3 (TEX11) E K 451 rs4844247 Benign
50323 Q8IYF3 (TEX11) A T 698 rs140984555 Disease: Spermatogeni c failure, X-linked, 2 (SPGFX2) [MIM:309120]
50324 Q8IYG6 (LRRC56) R Q 12 rs2277269 Benign
50325 Q8IYG6 (LRRC56) L P 140 - Disease: Ciliary dyskinesia, primary, 39 (CILD39) [MIM:618254]
50326 Q8IYG6 (LRRC56) R H 300 rs4963198 Benign
50327 Q8IYG6 (LRRC56) R Q 467 rs12793222 Benign
50328 Q8IYG6 (LRRC56) R G 507 rs10902170 Benign
50329 Q8IYG6 (LRRC56) D H 523 rs10902171 Benign
50330 Q8IYI0 (SHLD1) A V 23 rs237422 Benign
50331 Q8IYI8 (ZNF440) L I 43 rs424132 Benign
50332 Q8IYI8 (ZNF440) P R 88 rs448446 Benign
50333 Q8IYI8 (ZNF440) N S 124 rs427880 Benign
50334 Q8IYI8 (ZNF440) S N 569 rs400106 Benign
50335 Q8IYK2 (CCDC105) V M 245 rs35352238 Benign
50336 Q8IYK2 (CCDC105) M T 248 rs34375549 Benign
50337 Q8IYK2 (CCDC105) D E 434 rs17855585 Benign
50338 Q8IYK2 (CCDC105) S T 444 rs8111625 Benign
50339 Q8IYK2 (CCDC105) P T 499 rs8112667 Benign
50340 Q8IYK8 (REM2) G A 96 rs8014119 Benign
50341 Q8IYL2 (TRMT44) M L 300 rs73211375 Benign
50342 Q8IYL2 (TRMT44) R G 352 rs1880024 Benign
50343 Q8IYL2 (TRMT44) I V 455 rs34873641 Benign
50344 Q8IYL2 (TRMT44) G A 641 rs150441746 Benign
50345 Q8IYL3 (C1orf174) T R 53 rs4274008 Benign
50346 Q8IYL3 (C1orf174) A S 101 rs10909820 Benign
50347 Q8IYL3 (C1orf174) P A 165 rs12036962 Benign
50348 Q8IYL9 (GPR65) I L 231 rs3742704 Benign
50349 Q8IYM0 (FAM186B) V M 397 rs17853450 Benign
50350 Q8IYM0 (FAM186B) E Q 553 rs12299908 Benign
50351 Q8IYM1 (SEPTIN12) T M 89 rs199696526 Disease: Spermatogeni c failure 10 (SPGF10) [MIM:614822]
50352 Q8IYM1 (SEPTIN12) D N 197 rs371195126 Disease: Spermatogeni c failure 10 (SPGF10) [MIM:614822]
50353 Q8IYM1 (SEPTIN12) Q R 213 rs6500633 Benign
50354 Q8IYM2 (SLFN12) S R 43 rs1849733 Benign
50355 Q8IYM2 (SLFN12) C R 168 rs2586514 Benign
50356 Q8IYM2 (SLFN12) S P 448 rs12946189 Benign
50357 Q8IYM9 (TRIM22) D N 155 rs7935564 Benign
50358 Q8IYM9 (TRIM22) T A 232 rs2291843 Benign
50359 Q8IYM9 (TRIM22) R T 242 rs1063303 Benign
50360 Q8IYM9 (TRIM22) R K 321 rs12364019 Benign
50361 Q8IYN0 (ZNF100) M V 8 rs12974842 Benign
50362 Q8IYN0 (ZNF100) T I 389 rs7246400 Benign
50363 Q8IYP9 (ZDHHC23) H N 132 rs17853401 Benign
50364 Q8IYP9 (ZDHHC23) T A 221 rs17853402 Benign
50365 Q8IYP9 (ZDHHC23) K R 247 rs11921691 Benign
50366 Q8IYP9 (ZDHHC23) H R 274 rs17857054 Benign
50367 Q8IYQ7 (THNSL1) L P 154 rs35827877 Benign
50368 Q8IYQ7 (THNSL1) P R 239 rs41279890 Benign
50369 Q8IYQ7 (THNSL1) A E 248 rs34929144 Benign
50370 Q8IYQ7 (THNSL1) Q R 399 rs41279894 Benign
50371 Q8IYR0 (CFAP206) R K 154 rs13219364 Benign
50372 Q8IYR0 (CFAP206) G A 170 rs16879281 Benign
50373 Q8IYR2 (SMYD4) N D 101 rs9907701 Benign
50374 Q8IYR2 (SMYD4) R I 131 rs7224496 Benign
50375 Q8IYR2 (SMYD4) G S 236 rs9913923 Benign
50376 Q8IYR2 (SMYD4) I M 374 rs9890631 Benign
50377 Q8IYR2 (SMYD4) P R 382 rs3809875 Benign
50378 Q8IYR2 (SMYD4) R W 562 rs11549830 Benign
50379 Q8IYR2 (SMYD4) Y C 727 rs9902398 Benign
50380 Q8IYR6 (TMEFF1) V I 189 rs35624603 Benign
50381 Q8IYS0 (GRAMD1C) L P 644 rs17853381 Benign
50382 Q8IYS1 (PM20D2) K E 333 rs10944433 Benign
50383 Q8IYS4 (C16orf71) E D 88 rs17137215 Benign
50384 Q8IYS4 (C16orf71) P S 143 rs17137230 Benign
50385 Q8IYS4 (C16orf71) S L 190 rs35599524 Benign
50386 Q8IYS4 (C16orf71) E K 232 rs35002791 Benign
50387 Q8IYS4 (C16orf71) A V 241 rs7202010 Benign
50388 Q8IYS4 (C16orf71) R C 302 rs2075469 Benign
50389 Q8IYS4 (C16orf71) Q R 354 rs737700 Benign
50390 Q8IYS4 (C16orf71) P L 465 rs17853375 Benign
50391 Q8IYS5 (OSCAR) I S 97 rs1657535 Benign
50392 Q8IYS5 (OSCAR) S Y 229 rs8106130 Benign
50393 Q8IYT1 (FAM71A) N D 22 rs17853363 Benign
50394 Q8IYT1 (FAM71A) N S 253 rs3122712 Benign
50395 Q8IYT1 (FAM71A) G D 319 rs17853362 Benign
50396 Q8IYT1 (FAM71A) N D 551 rs3122713 Benign
50397 Q8IYT1 (FAM71A) T M 577 rs3795842 Benign
50398 Q8IYT2 (CMTR2) L F 60 rs3096380 Benign
50399 Q8IYT2 (CMTR2) F Y 163 rs17853360 Benign
50400 Q8IYT2 (CMTR2) N S 416 rs3803704 Benign
50401 Q8IYT2 (CMTR2) T K 608 rs3096381 Benign
50402 Q8IYT2 (CMTR2) F L 753 rs16970857 Benign
50403 Q8IYT3 (CCDC170) A V 269 rs12205837 Benign
50404 Q8IYT3 (CCDC170) F S 324 rs953767 Benign
50405 Q8IYT3 (CCDC170) A T 331 rs17855718 Benign
50406 Q8IYT3 (CCDC170) E K 345 rs55868409 Benign
50407 Q8IYT3 (CCDC170) N K 479 rs35159094 Benign
50408 Q8IYT3 (CCDC170) R Q 553 rs34430497 Benign
50409 Q8IYT3 (CCDC170) V I 604 rs6929137 Benign
50410 Q8IYT3 (CCDC170) V I 683 rs3734804 Benign
50411 Q8IYT4 (KATNAL2) S N 160 rs7233515 Benign
50412 Q8IYT8 (ULK2) P S 242 rs34670978 Benign
50413 Q8IYT8 (ULK2) V M 370 rs150122 Benign
50414 Q8IYT8 (ULK2) T I 533 rs4462660 Benign
50415 Q8IYT8 (ULK2) G R 752 rs55730189 Benign
50416 Q8IYT8 (ULK2) D E 842 rs35107651 Benign
50417 Q8IYU2 (HACE1) R H 17 rs17853353 Benign
50418 Q8IYU2 (HACE1) I T 374 rs17857038 Benign
50419 Q8IYU4 (UBQLNL) D V 92 rs7933557 Benign
50420 Q8IYU4 (UBQLNL) Q K 143 rs3802978 Benign
50421 Q8IYU4 (UBQLNL) C R 171 rs2047456 Benign
50422 Q8IYU4 (UBQLNL) G D 259 rs16932225 Benign
50423 Q8IYU4 (UBQLNL) Y H 274 rs2017434 Benign
50424 Q8IYU4 (UBQLNL) A V 275 rs2017433 Benign
50425 Q8IYU4 (UBQLNL) W G 379 rs393044 Benign
50426 Q8IYU4 (UBQLNL) Q E 455 rs12223282 Benign
50427 Q8IYU8 (MICU2) Q L 260 rs17853349 Benign
50428 Q8IYV9 (IZUMO1) A V 333 rs2307019 Benign
50429 Q8IYW2 (CFAP46) S N 264 rs12781609 Benign
50430 Q8IYW2 (CFAP46) C R 2125 rs10870341 Benign
50431 Q8IYW2 (CFAP46) E K 2249 rs12356978 Benign
50432 Q8IYW2 (CFAP46) A T 2331 rs4880433 Benign
50433 Q8IYW2 (CFAP46) L F 2499 rs3750587 Benign
50434 Q8IYW2 (CFAP46) S G 2540 rs2254419 Benign
50435 Q8IYW2 (CFAP46) K Q 2658 rs35981039 Benign
50436 Q8IYW4 (ENTHD1) I T 109 rs17319801 Benign
50437 Q8IYW5 (RNF168) K R 387 rs35774921 Benign
50438 Q8IYW5 (RNF168) P Q 401 rs3796129 Benign
50439 Q8IYW5 (RNF168) E K 413 rs6790173 Benign
50440 Q8IYX0 (ZNF679) E G 69 rs12154540 Benign
50441 Q8IYX0 (ZNF679) H R 120 rs17139320 Benign
50442 Q8IYX0 (ZNF679) Y H 212 rs1830035 Benign
50443 Q8IYX0 (ZNF679) C S 223 rs1830036 Benign
50444 Q8IYX1 (TBC1D21) R Q 113 rs16958445 Benign
50445 Q8IYX3 (CCDC116) R C 96 rs861854 Benign
50446 Q8IYX3 (CCDC116) G R 121 rs371513 Benign
50447 Q8IYX3 (CCDC116) R W 122 rs861853 Benign
50448 Q8IYX3 (CCDC116) R W 199 rs12170285 Benign
50449 Q8IYX3 (CCDC116) P L 293 rs41279987 Benign
50450 Q8IYX3 (CCDC116) A T 436 rs11705259 Benign
50451 Q8IYX7 (SAXO1) K E 27 rs7021572 Benign
50452 Q8IYX7 (SAXO1) P S 63 rs6475273 Benign
50453 Q8IYX7 (SAXO1) N S 385 rs34119945 Benign
50454 Q8IYX8 (CEP57L1) D E 194 rs351733 Benign
50455 Q8IYY4 (DZIP1L) A V 90 rs555349004 Disease: Polycystic kidney disease 5 (PKD5) [MIM:617610]
50456 Q8IYY4 (DZIP1L) Q H 91 rs1135402754 Disease: Polycystic kidney disease 5 (PKD5) [MIM:617610]
50457 Q8IYY4 (DZIP1L) R W 321 rs2724693 Benign
50458 Q8IYY4 (DZIP1L) T A 545 rs446644 Benign
50459 Q8IYY4 (DZIP1L) A V 551 rs11917468 Benign
50460 Q8IYY4 (DZIP1L) R H 593 rs374045 Benign
50461 Q8IYY4 (DZIP1L) K E 645 rs442800 Benign
50462 Q8IZ02 (LRRC34) P L 49 rs9820986 Benign
50463 Q8IZ02 (LRRC34) L I 286 rs10936600 Benign
50464 Q8IZ02 (LRRC34) M I 405 rs9872760 Benign
50465 Q8IZ07 (ANKRD13A) L P 505 rs2287174 Benign
50466 Q8IZ08 (GPR135) Q P 5 rs1752428 Benign
50467 Q8IZ08 (GPR135) V A 481 rs1752427 Benign
50468 Q8IZ13 (ZBED8) A S 523 rs10515808 Benign
50469 Q8IZ20 (ZNF683) G V 22 rs35040247 Benign
50470 Q8IZ20 (ZNF683) D G 48 rs10794532 Benign
50471 Q8IZ20 (ZNF683) H R 53 rs10794531 Benign
50472 Q8IZ20 (ZNF683) H N 204 rs17852672 Benign
50473 Q8IZ20 (ZNF683) R L 288 rs11247933 Benign
50474 Q8IZ40 (RCOR2) T A 514 rs320108 Benign
50475 Q8IZ41 (RASEF) R C 262 rs4146960 Benign
50476 Q8IZ52 (CHPF) Q R 371 rs6436155 Benign
50477 Q8IZ57 (NRSN1) I V 41 rs17299946 Benign
50478 Q8IZ57 (NRSN1) H Y 104 rs11544636 Benign
50479 Q8IZ63 (PRR22) P L 118 rs3745640 Benign
50480 Q8IZ69 (TRMT2A) S R 602 rs447017 Benign
50481 Q8IZ83 (ALDH16A1) E K 110 rs3745312 Benign
50482 Q8IZ83 (ALDH16A1) L V 227 rs1320303 Benign
50483 Q8IZ96 (CMTM1) S T 10 rs16956746 Benign
50484 Q8IZA0 (KIAA0319L) G D 243 rs1635712 Benign
50485 Q8IZA0 (KIAA0319L) Q H 837 rs1361040 Benign
50486 Q8IZA3 (H1-8) N S 296 rs59415528 Benign
50487 Q8IZC4 (RTKN2) K T 101 rs3765004 Benign
50488 Q8IZC4 (RTKN2) H R 462 rs3125734 Benign
50489 Q8IZC6 (COL27A1) V I 89 rs2567707 Benign
50490 Q8IZC6 (COL27A1) Q R 120 rs2567706 Benign
50491 Q8IZC6 (COL27A1) A T 265 rs34578955 Benign
50492 Q8IZC6 (COL27A1) R C 349 rs34973417 Benign
50493 Q8IZC6 (COL27A1) A T 422 rs2241671 Benign
50494 Q8IZC6 (COL27A1) I T 537 rs2808770 Benign
50495 Q8IZC6 (COL27A1) I F 611 rs2567705 Benign
50496 Q8IZC6 (COL27A1) G R 697 rs140950220 Disease: Steel syndrome (STLS) [MIM:615155]
50497 Q8IZC6 (COL27A1) P R 720 rs35446342 Benign
50498 Q8IZC6 (COL27A1) P Q 1116 rs7048607 Benign
50499 Q8IZC6 (COL27A1) R Q 1348 rs1631319 Benign
50500 Q8IZC6 (COL27A1) R Q 1354 rs10982134 Benign
50501 Q8IZC6 (COL27A1) M V 1808 rs3736252 Benign
50502 Q8IZC7 (ZNF101) M L 121 rs4808209 Benign
50503 Q8IZD2 (KMT2E) V I 140 - Disease: O'Donnell- Luria-Rodan syndrome (ODLURO) [MIM:618512]
50504 Q8IZD2 (KMT2E) Y H 284 - Disease: O'Donnell- Luria-Rodan syndrome (ODLURO) [MIM:618512]
50505 Q8IZD2 (KMT2E) D V 907 - Disease: O'Donnell- Luria-Rodan syndrome (ODLURO) [MIM:618512]
50506 Q8IZD2 (KMT2E) P L 1376 - Benign
50507 Q8IZD2 (KMT2E) P S 1376 - Disease: O'Donnell- Luria-Rodan syndrome (ODLURO) [MIM:618512]
50508 Q8IZD2 (KMT2E) S P 1424 rs35605511 Benign
50509 Q8IZD4 (DCP1B) N D 195 rs12423058 Benign
50510 Q8IZD4 (DCP1B) N S 216 rs34730825 Benign
50511 Q8IZD4 (DCP1B) S T 301 rs2470449 Benign
50512 Q8IZD4 (DCP1B) R H 344 rs715146 Benign
50513 Q8IZD6 (SLC22A15) P Q 349 rs17852419 Benign
50514 Q8IZE3 (SCYL3) G A 597 rs12143301 Benign
50515 Q8IZE3 (SCYL3) Q R 621 rs4656197 Benign
50516 Q8IZF0 (NALCN) Q P 177 rs786203984 Disease: Congenital contractures of the limbs and face, hypotonia, and developmenta l delay (CLIFAHDD) [MIM:616266]
50517 Q8IZF0 (NALCN) L I 312 rs878853134 Disease: Congenital contractures of the limbs and face, hypotonia, and developmenta l delay (CLIFAHDD) [MIM:616266]
50518 Q8IZF0 (NALCN) V G 313 rs786203985 Disease: Congenital contractures of the limbs and face, hypotonia, and developmenta l delay (CLIFAHDD) [MIM:616266]
50519 Q8IZF0 (NALCN) L S 509 rs786203987 Disease: Congenital contractures of the limbs and face, hypotonia, and developmenta l delay (CLIFAHDD) [MIM:616266]
50520 Q8IZF0 (NALCN) Y S 578 rs786203988 Disease: Congenital contractures of the limbs and face, hypotonia, and developmenta l delay (CLIFAHDD) [MIM:616266]
50521 Q8IZF0 (NALCN) L F 590 rs786203986 Disease: Congenital contractures of the limbs and face, hypotonia, and developmenta l delay (CLIFAHDD) [MIM:616266]
50522 Q8IZF0 (NALCN) T P 1165 rs878853128 Disease: Congenital contractures of the limbs and face, hypotonia, and developmenta l delay (CLIFAHDD) [MIM:616266]
50523 Q8IZF0 (NALCN) W L 1287 rs587777068 Disease: Hypotonia, infantile, with psychomotor retardation and characterist ic facies 1 (IHPRF1) [MIM:615419]
50524 Q8IZF0 (NALCN) I M 1446 rs878853127 Disease: Congenital contractures of the limbs and face, hypotonia, and developmenta l delay (CLIFAHDD) [MIM:616266]
50525 Q8IZF2 (ADGRF5) T M 604 rs586024 Benign
50526 Q8IZF2 (ADGRF5) V I 801 rs9395218 Benign
50527 Q8IZF2 (ADGRF5) M T 856 rs547499 Benign
50528 Q8IZF3 (ADGRF4) R C 507 rs12110938 Benign
50529 Q8IZF3 (ADGRF4) K N 541 rs9369738 Benign
50530 Q8IZF5 (ADGRF3) A T 404 rs2052937 Benign
50531 Q8IZF6 (ADGRG4) I M 276 rs4829829 Benign
50532 Q8IZF6 (ADGRG4) P H 368 rs5930931 Benign
50533 Q8IZF6 (ADGRG4) T N 1213 rs4829830 Benign
50534 Q8IZF6 (ADGRG4) S P 1540 rs912002 Benign
50535 Q8IZF6 (ADGRG4) F L 1791 rs5930932 Benign
50536 Q8IZF7 (ADGRF2) Q R 148 rs6907125 Benign
50537 Q8IZF7 (ADGRF2) I V 467 rs9381594 Benign
50538 Q8IZH2 (XRN1) S G 674 rs35214510 Benign
50539 Q8IZH2 (XRN1) V A 1259 rs35902661 Benign
50540 Q8IZI9 (IFNL3) R H 28 rs629976 Benign
50541 Q8IZI9 (IFNL3) K R 70 rs8103142 Benign
50542 Q8IZJ0 (IFNL2) T M 10 rs554971 Benign
50543 Q8IZJ0 (IFNL2) T A 112 rs8103362 Benign
50544 Q8IZJ1 (UNC5B) I V 242 rs34957097 Benign
50545 Q8IZJ1 (UNC5B) A T 516 rs10509332 Benign
50546 Q8IZJ3 (CPAMD8) R W 251 rs10426545 Benign
50547 Q8IZJ3 (CPAMD8) M T 265 rs4808551 Benign
50548 Q8IZJ3 (CPAMD8) R Q 294 rs3745340 Benign
50549 Q8IZJ3 (CPAMD8) D E 539 rs3745335 Benign
50550 Q8IZJ3 (CPAMD8) H R 546 rs1824152 Benign
50551 Q8IZJ3 (CPAMD8) P H 736 rs9305083 Benign
50552 Q8IZJ3 (CPAMD8) V I 1156 rs2250918 Benign
50553 Q8IZJ3 (CPAMD8) T I 1268 rs706761 Benign
50554 Q8IZJ3 (CPAMD8) S P 1404 rs1057519340 Disease: Anterior segment dysgenesis 8 (ASGD8) [MIM:617319]
50555 Q8IZJ3 (CPAMD8) Q R 1843 rs1054533 Benign
50556 Q8IZJ4 (RGL4) Q R 24 rs738786 Benign
50557 Q8IZJ4 (RGL4) R C 37 rs17003394 Benign
50558 Q8IZJ4 (RGL4) T M 216 rs17003397 Benign
50559 Q8IZJ4 (RGL4) H Y 241 rs2070446 Benign
50560 Q8IZJ4 (RGL4) E K 297 rs17003398 Benign
50561 Q8IZJ4 (RGL4) M R 342 rs2070449 Benign
50562 Q8IZJ4 (RGL4) D V 358 rs8137247 Benign
50563 Q8IZJ4 (RGL4) V A 378 rs1007298 Benign
50564 Q8IZK6 (MCOLN2) M V 365 rs17117841 Benign
50565 Q8IZK6 (MCOLN2) K Q 370 rs6704203 Benign
50566 Q8IZL2 (MAML2) P T 896 rs7123133 Benign
50567 Q8IZL8 (PELP1) T S 1126 rs9436 Benign
50568 Q8IZL9 (CDK20) S L 86 rs28364953 Benign
50569 Q8IZL9 (CDK20) S N 106 rs41286029 Benign
50570 Q8IZL9 (CDK20) A T 137 rs28364955 Benign
50571 Q8IZL9 (CDK20) K R 281 rs28364963 Benign
50572 Q8IZM9 (SLC38A6) L M 70 rs976272 Benign
50573 Q8IZM9 (SLC38A6) S T 419 rs762713377 Benign
50574 Q8IZN3 (ZDHHC14) T M 334 rs8180688 Benign
50575 Q8IZP0 (ABI1) G A 331 rs2306236 Benign
50576 Q8IZP1 (TBC1D3) Q P 526 - Benign
50577 Q8IZP2 (ST13P4) S L 71 - Benign
50578 Q8IZP6 (RNF113B) V M 92 rs16955011 Benign
50579 Q8IZP7 (HS6ST3) K R 265 rs9516771 Benign
50580 Q8IZP9 (ADGRG2) P S 224 rs140334931 Benign
50581 Q8IZP9 (ADGRG2) H Q 290 rs35974297 Benign
50582 Q8IZP9 (ADGRG2) N S 771 rs3924227 Benign
50583 Q8IZQ1 (WDFY3) R W 2637 rs1553924800 Disease: Microcephaly 18, primary, autosomal dominant (MCPH18) [MIM:617520]
50584 Q8IZQ1 (WDFY3) I V 3032 rs17368018 Benign
50585 Q8IZS5 (OFCC1) S L 21 rs9477310 Benign
50586 Q8IZS5 (OFCC1) R Q 123 rs9383206 Benign
50587 Q8IZS5 (OFCC1) T I 145 rs9477211 Benign
50588 Q8IZS6 (TCTE3) I V 67 rs116980543 Benign
50589 Q8IZS6 (TCTE3) R I 88 rs2027063 Benign
50590 Q8IZS6 (TCTE3) V A 121 rs13194101 Benign
50591 Q8IZT6 (ASPM) I V 313 rs12025066 Benign
50592 Q8IZT6 (ASPM) R G 430 rs6428388 Benign
50593 Q8IZT6 (ASPM) T S 869 rs7551108 Benign
50594 Q8IZT6 (ASPM) S F 1090 rs16841081 Benign
50595 Q8IZT6 (ASPM) Y H 2494 rs964201 Benign
50596 Q8IZT6 (ASPM) N D 2526 rs587783267 Benign
50597 Q8IZT6 (ASPM) S G 2562 rs41310927 Benign
50598 Q8IZT6 (ASPM) Q H 2620 rs12138336 Benign
50599 Q8IZT6 (ASPM) L I 2647 rs3762271 Benign
50600 Q8IZT6 (ASPM) L R 3132 rs36004306 Benign
50601 Q8IZT6 (ASPM) Q P 3180 rs193251130 Benign
50602 Q8IZT6 (ASPM) H R 3258 rs7528827 Benign
50603 Q8IZT8 (HS3ST5) I N 247 rs17793043 Benign
50604 Q8IZU2 (WDR17) I V 418 rs59567138 Benign
50605 Q8IZU2 (WDR17) A T 814 rs4690661 Benign
50606 Q8IZU2 (WDR17) C S 913 rs7693453 Benign
50607 Q8IZU2 (WDR17) E K 952 rs6810394 Benign
50608 Q8IZU2 (WDR17) A T 1215 rs17625943 Benign
50609 Q8IZU2 (WDR17) A T 1295 rs11736872 Benign
50610 Q8IZU8 (DSEL) P S 673 rs2279269 Benign
50611 Q8IZU8 (DSEL) Y C 730 rs12953840 Benign
50612 Q8IZU8 (DSEL) T S 832 rs35479856 Benign
50613 Q8IZW8 (TNS4) L P 179 rs3764424 Benign
50614 Q8IZW8 (TNS4) T K 327 rs33923045 Benign
50615 Q8IZW8 (TNS4) S N 498 rs2290207 Benign
50616 Q8IZX4 (TAF1L) Q E 171 rs56352331 Benign
50617 Q8IZX4 (TAF1L) G A 256 rs55991718 Benign
50618 Q8IZX4 (TAF1L) M V 371 rs17219559 Benign
50619 Q8IZX4 (TAF1L) I N 532 rs56128445 Benign
50620 Q8IZX4 (TAF1L) P S 637 rs56157814 Benign
50621 Q8IZX4 (TAF1L) R Q 845 rs34787787 Benign
50622 Q8IZX4 (TAF1L) R C 1016 rs35905429 Benign
50623 Q8IZX4 (TAF1L) K N 1038 rs55767137 Benign
50624 Q8IZX4 (TAF1L) T I 1169 rs55976674 Benign
50625 Q8IZX4 (TAF1L) V L 1312 rs55824107 Benign
50626 Q8IZX4 (TAF1L) R C 1356 rs56107531 Benign
50627 Q8IZX4 (TAF1L) P S 1389 rs56393725 Benign
50628 Q8IZX4 (TAF1L) I V 1411 rs34500740 Benign
50629 Q8IZX4 (TAF1L) A T 1540 rs55782058 Benign
50630 Q8IZX4 (TAF1L) K N 1731 rs34241003 Benign
50631 Q8IZX4 (TAF1L) I V 1805 rs16918393 Benign
50632 Q8IZX4 (TAF1L) P L 1810 rs56342342 Benign
50633 Q8IZY2 (ABCA7) E G 188 rs3764645 Benign
50634 Q8IZY2 (ABCA7) T A 319 rs3752232 Benign
50635 Q8IZY2 (ABCA7) H R 395 rs3764647 Benign
50636 Q8IZY2 (ABCA7) R H 463 rs3752233 Benign
50637 Q8IZY2 (ABCA7) A T 676 rs59851484 Benign
50638 Q8IZY2 (ABCA7) N T 718 rs3752239 Benign
50639 Q8IZY2 (ABCA7) R Q 880 rs143718918 Disease: Alzheimer disease 9 (AD9) [MIM:608907]
50640 Q8IZY2 (ABCA7) R Q 1349 rs3745842 Benign
50641 Q8IZY2 (ABCA7) G A 1527 rs3752246 Benign
50642 Q8IZY2 (ABCA7) Q R 1686 rs4147918 Benign
50643 Q8IZY2 (ABCA7) A S 2045 rs4147934 Benign
50644 Q8IZY5 (BLID) A D 76 rs7116084 Benign
50645 Q8J025 (APCDD1) L R 9 rs267606659 Disease: Hypotrichosi s 1 (HYPT1) [MIM:605389]
50646 Q8J025 (APCDD1) V I 150 rs3748415 Benign
50647 Q8N0S2 (SYCE1) E D 132 rs8181357 Benign
50648 Q8N0S2 (SYCE1) K R 183 rs3747881 Benign
50649 Q8N0S2 (SYCE1) P A 317 rs1313001903 Benign
50650 Q8N0S6 (CENPL) I F 117 rs12086855 Benign
50651 Q8N0U2 (TMEM61) E K 40 rs3737832 Benign
50652 Q8N0U4 (FAM185A) G A 60 rs28695887 Benign
50653 Q8N0U6 (LINC00518) Y C 106 rs303061 Benign
50654 Q8N0U7 (C1orf87) L V 185 rs12737449 Benign
50655 Q8N0U7 (C1orf87) N D 301 rs17120025 Benign
50656 Q8N0U7 (C1orf87) K E 403 rs626251 Benign
50657 Q8N0U7 (C1orf87) A P 406 rs35260089 Benign
50658 Q8N0V3 (RBFA) V M 122 rs748338 Benign
50659 Q8N0V3 (RBFA) N H 245 rs3744872 Benign
50660 Q8N0V3 (RBFA) K Q 276 rs3744873 Benign
50661 Q8N0V4 (LGI2) R Q 444 rs2232026 Benign
50662 Q8N0V4 (LGI2) Q R 452 rs2232027 Benign
50663 Q8N0V5 (GCNT2) A T 169 rs137853339 Benign
50664 Q8N0V5 (GCNT2) R Q 228 rs137853340 Benign
50665 Q8N0V5 (GCNT2) G E 350 rs56141211 Disease: Cataract 13, with adult i phenotype (CTRCT13) [MIM:116700]
50666 Q8N0V5 (GCNT2) R H 385 rs55940927 Disease: Cataract 13, with adult i phenotype (CTRCT13) [MIM:116700]
50667 Q8N0W3 (FCSK) V M 146 rs17881323 Benign
50668 Q8N0W3 (FCSK) A T 521 rs17881069 Benign
50669 Q8N0W3 (FCSK) R H 571 rs17886171 Benign
50670 Q8N0W3 (FCSK) P L 701 rs17883716 Benign
50671 Q8N0W3 (FCSK) A T 858 rs17884050 Benign
50672 Q8N0W3 (FCSK) V M 861 rs17878599 Benign
50673 Q8N0W3 (FCSK) R W 901 rs17881635 Benign
50674 Q8N0W3 (FCSK) R Q 939 rs17886060 Benign
50675 Q8N0W3 (FCSK) R W 939 rs17883248 Benign
50676 Q8N0W5 (IQCK) L P 220 rs7191155 Benign
50677 Q8N0W7 (FMR1NB) A V 142 rs764631 Benign
50678 Q8N0X2 (SPAG16) P T 324 rs10167688 Benign
50679 Q8N0X2 (SPAG16) Q H 361 rs2042791 Benign
50680 Q8N0X2 (SPAG16) K T 425 rs12623569 Benign
50681 Q8N0X4 (CLYBL) D Y 28 rs17577293 Benign
50682 Q8N0X4 (CLYBL) V I 128 rs35680839 Benign
50683 Q8N0X4 (CLYBL) I V 241 rs3783185 Benign
50684 Q8N0X7 (SPART) M V 330 rs1399213398 Disease: Spastic paraplegia 20, autosomal recessive (SPG20) [MIM:275900]
50685 Q8N0Y3 (OR4N4) L F 61 rs535034 Benign
50686 Q8N0Y3 (OR4N4) L F 86 rs2808136 Benign
50687 Q8N0Y3 (OR4N4) T M 239 rs475947 Benign
50688 Q8N0Y3 (OR4N4) F L 274 rs3817271 Benign
50689 Q8N0Y5 (OR8I2) I V 124 rs17603011 Benign
50690 Q8N0Y5 (OR8I2) K N 139 rs17150021 Benign
50691 Q8N0Y7 (PGAM4) R C 40 rs782408548 Benign
50692 Q8N0Y7 (PGAM4) R Q 90 rs5959129 Benign
50693 Q8N0Y7 (PGAM4) I T 175 - Benign
50694 Q8N0Z3 (SPICE1) L V 275 rs16861032 Benign
50695 Q8N0Z3 (SPICE1) R G 472 rs7614751 Benign
50696 Q8N0Z6 (TTC5) Q H 14 rs34675160 Benign
50697 Q8N0Z6 (TTC5) Q R 47 rs3742945 Benign
50698 Q8N0Z8 (PUSL1) R Q 103 rs12094447 Benign
50699 Q8N0Z8 (PUSL1) R W 197 rs34738574 Benign
50700 Q8N0Z9 (VSIG10) V M 333 rs9668527 Benign
50701 Q8N0Z9 (VSIG10) H Y 435 rs7307331 Benign
50702 Q8N100 (ATOH7) N H 46 rs587777666 Disease: Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900]
50703 Q8N100 (ATOH7) A T 47 - Benign
50704 Q8N100 (ATOH7) E V 49 rs587777664 Disease: Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900]
50705 Q8N100 (ATOH7) R G 65 rs111699024 Benign
50706 Q8N103 (TAGAP) G D 346 rs35263580 Benign
50707 Q8N114 (SHISA5) G R 216 rs35750010 Benign
50708 Q8N119 (MMP21) R W 31 rs746379956 Disease: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
50709 Q8N119 (MMP21) A E 95 rs28381282 Benign
50710 Q8N119 (MMP21) P Q 115 rs28381284 Benign
50711 Q8N119 (MMP21) V A 191 rs10901425 Benign
50712 Q8N119 (MMP21) E K 215 rs145789868 Disease: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
50713 Q8N119 (MMP21) I T 226 rs781127723 Disease: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
50714 Q8N119 (MMP21) D E 263 rs34811493 Benign
50715 Q8N119 (MMP21) H Y 283 rs1434829861 Disease: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
50716 Q8N119 (MMP21) I T 285 rs747668147 Disease: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
50717 Q8N119 (MMP21) A T 311 rs17173746 Benign
50718 Q8N119 (MMP21) A P 321 rs773125891 Disease: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
50719 Q8N119 (MMP21) E G 349 rs28381302 Benign
50720 Q8N119 (MMP21) R H 360 rs17153524 Benign
50721 Q8N119 (MMP21) R C 360 rs946722250 Disease: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
50722 Q8N119 (MMP21) R H 375 - Disease: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
50723 Q8N119 (MMP21) A V 454 rs28381319 Benign
50724 Q8N123 (CPXCR1) Y S 3 rs5940915 Benign
50725 Q8N123 (CPXCR1) R H 131 rs5984611 Benign
50726 Q8N126 (CADM3) R W 162 rs3026987 Benign
50727 Q8N127 (OR5AS1) R L 122 rs12224086 Benign
50728 Q8N127 (OR5AS1) Y C 310 rs17600939 Benign
50729 Q8N129 (CNPY4) G R 168 rs60551236 Benign
50730 Q8N130 (SLC34A3) R H 67 rs34372115 Benign
50731 Q8N130 (SLC34A3) S F 138 rs141734934 Disease: Hereditary hypophosphat emic rickets with hypercalciur ia (HHRH) [MIM:241530]
50732 Q8N130 (SLC34A3) G A 180 rs35643193 Benign
50733 Q8N130 (SLC34A3) S L 192 rs199690076 Disease: Hereditary hypophosphat emic rickets with hypercalciur ia (HHRH) [MIM:241530]
50734 Q8N130 (SLC34A3) G R 196 rs121918237 Disease: Hereditary hypophosphat emic rickets with hypercalciur ia (HHRH) [MIM:241530]
50735 Q8N130 (SLC34A3) D N 237 rs145877051 Benign
50736 Q8N130 (SLC34A3) G S 337 rs35699762 Benign
50737 Q8N130 (SLC34A3) R L 353 rs121918234 Disease: Hereditary hypophosphat emic rickets with hypercalciur ia (HHRH) [MIM:241530]
50738 Q8N130 (SLC34A3) A E 413 rs121918235 Disease: Hereditary hypophosphat emic rickets with hypercalciur ia (HHRH) [MIM:241530]
50739 Q8N130 (SLC34A3) R W 468 rs121918238 Disease: Hereditary hypophosphat emic rickets with hypercalciur ia (HHRH) [MIM:241530]
50740 Q8N130 (SLC34A3) E V 513 rs28542318 Benign
50741 Q8N131 (TMEM123) V M 71 rs2155587 Benign
50742 Q8N131 (TMEM123) V F 86 rs11547915 Benign
50743 Q8N131 (TMEM123) A T 158 rs12288849 Benign
50744 Q8N135 (LGI4) R P 258 rs755500591 Disease: Arthrogrypos is multiplex congenita, neurogenic, with myelin defect (AMCNMY) [MIM:617468]
50745 Q8N135 (LGI4) V D 434 rs1064797094 Disease: Arthrogrypos is multiplex congenita, neurogenic, with myelin defect (AMCNMY) [MIM:617468]
50746 Q8N136 (DAW1) T I 27 rs11894733 Benign
50747 Q8N136 (DAW1) T S 121 rs1715828 Benign
50748 Q8N136 (DAW1) G S 259 rs35027781 Benign
50749 Q8N136 (DAW1) L F 317 rs35395984 Benign
50750 Q8N137 (CNTROB) R Q 439 rs35421969 Benign
50751 Q8N137 (CNTROB) P Q 578 rs11650083 Benign
50752 Q8N139 (ABCA6) V I 282 rs4968839 Benign
50753 Q8N139 (ABCA6) N Y 610 rs9282554 Benign
50754 Q8N139 (ABCA6) M I 698 rs9282553 Benign
50755 Q8N139 (ABCA6) M I 875 rs7212506 Benign
50756 Q8N139 (ABCA6) N S 1322 rs2302134 Benign
50757 Q8N142 (ADSS1) D N 261 rs140614802 Disease: Myopathy, distal, 5 (MPD5) [MIM:617030]
50758 Q8N145 (LGI3) A T 524 rs34112456 Benign
50759 Q8N146 (OR8H3) L I 47 rs7107077 Benign
50760 Q8N146 (OR8H3) P S 137 rs1842691 Benign
50761 Q8N146 (OR8H3) I V 201 rs17531522 Benign
50762 Q8N146 (OR8H3) R K 295 rs11606538 Benign
50763 Q8N148 (OR6V1) S F 237 rs10245778 Benign
50764 Q8N148 (OR6V1) R K 269 rs7791886 Benign
50765 Q8N148 (OR6V1) V A 295 rs7779316 Benign
50766 Q8N149 (LILRA2) H L 25 rs1834697 Benign
50767 Q8N149 (LILRA2) H N 25 rs1834698 Benign
50768 Q8N149 (LILRA2) V G 331 rs7249811 Benign
50769 Q8N149 (LILRA2) G A 361 rs7249154 Benign
50770 Q8N149 (LILRA2) R C 381 rs7249054 Benign
50771 Q8N157 (AHI1) I N 49 - Benign
50772 Q8N157 (AHI1) R L 351 rs397514726 Disease: Joubert syndrome 3 (JBTS3) [MIM:608629]
50773 Q8N157 (AHI1) V D 443 rs121434350 Disease: Joubert syndrome 3 (JBTS3) [MIM:608629]
50774 Q8N157 (AHI1) R H 548 rs35433555 Benign
50775 Q8N157 (AHI1) T I 671 rs772989270 Disease: Joubert syndrome 3 (JBTS3) [MIM:608629]
50776 Q8N157 (AHI1) D G 719 rs863225134 Disease: Joubert syndrome 3 (JBTS3) [MIM:608629]
50777 Q8N157 (AHI1) R Q 723 rs121434351 Disease: Joubert syndrome 3 (JBTS3) [MIM:608629]
50778 Q8N157 (AHI1) S L 761 rs794727174 Benign
50779 Q8N157 (AHI1) R W 830 rs13312995 Benign
50780 Q8N157 (AHI1) T S 856 rs199736888 Benign
50781 Q8N157 (AHI1) H R 896 rs863225135 Disease: Joubert syndrome 3 (JBTS3) [MIM:608629]
50782 Q8N157 (AHI1) Y C 933 rs41288013 Benign
50783 Q8N157 (AHI1) Q P 1018 rs6940875 Benign
50784 Q8N157 (AHI1) E G 1086 rs148000791 Benign
50785 Q8N157 (AHI1) S F 1123 rs117447608 Benign
50786 Q8N157 (AHI1) P S 1140 rs201148693 Benign
50787 Q8N159 (NAGS) C R 200 rs1188223411 Disease: N-acetylglut amate synthase deficiency (NAGSD) [MIM:237310]
50788 Q8N159 (NAGS) A P 279 - Disease: N-acetylglut amate synthase deficiency (NAGSD) [MIM:237310]
50789 Q8N159 (NAGS) S P 410 - Disease: N-acetylglut amate synthase deficiency (NAGSD) [MIM:237310]
50790 Q8N159 (NAGS) L P 430 rs104894605 Disease: N-acetylglut amate synthase deficiency (NAGSD) [MIM:237310]
50791 Q8N159 (NAGS) W R 484 rs104894606 Disease: N-acetylglut amate synthase deficiency (NAGSD) [MIM:237310]
50792 Q8N159 (NAGS) A T 518 rs745511282 Disease: N-acetylglut amate synthase deficiency (NAGSD) [MIM:237310]
50793 Q8N162 (OR8H2) H Y 120 rs2512961 Benign
50794 Q8N162 (OR8H2) Y C 169 rs2449148 Benign
50795 Q8N162 (OR8H2) V M 284 rs1842696 Benign
50796 Q8N196 (SIX5) A T 158 rs80356461 Disease: Branchiootor enal syndrome 2 (BOR2) [MIM:610896]
50797 Q8N196 (SIX5) A T 296 rs80356462 Disease: Branchiootor enal syndrome 2 (BOR2) [MIM:610896]
50798 Q8N196 (SIX5) G R 365 rs80356463 Disease: Branchiootor enal syndrome 2 (BOR2) [MIM:610896]
50799 Q8N196 (SIX5) T M 552 rs80356464 Disease: Branchiootor enal syndrome 2 (BOR2) [MIM:610896]
50800 Q8N196 (SIX5) L V 556 rs2014377 Benign
50801 Q8N196 (SIX5) P S 635 rs2014576 Benign
50802 Q8N196 (SIX5) V M 693 rs2341097 Benign
50803 Q8N1A6 (C4orf33) R M 40 rs35199409 Benign
50804 Q8N1A6 (C4orf33) S L 104 rs2271570 Benign
50805 Q8N1A6 (C4orf33) M V 107 rs337277 Benign
50806 Q8N1A6 (C4orf33) H R 166 rs17351999 Benign
50807 Q8N1B3 (CCNQ) C S 183 rs17850173 Benign
50808 Q8N1C3 (GABRG1) G E 403 rs17852913 Benign
50809 Q8N1D0 (SLC22A18A) G D 89 rs365605 Benign
50810 Q8N1D0 (SLC22A18A) G R 133 rs441071 Benign
50811 Q8N1D5 (C1orf158) F L 191 rs1132185 Benign
50812 Q8N1E6 (FBXL14) L V 220 rs35571553 Benign
50813 Q8N1F7 (NUP93) R W 388 rs145146218 Disease: Nephrotic syndrome 12 (NPHS12) [MIM:616892]
50814 Q8N1F7 (NUP93) S R 509 rs17853288 Benign
50815 Q8N1F7 (NUP93) G V 591 rs145473779 Disease: Nephrotic syndrome 12 (NPHS12) [MIM:616892]
50816 Q8N1F7 (NUP93) Y C 629 rs757674160 Disease: Nephrotic syndrome 12 (NPHS12) [MIM:616892]
50817 Q8N1F8 (STK11IP) R H 382 rs17855575 Benign
50818 Q8N1F8 (STK11IP) R G 399 rs17855576 Benign
50819 Q8N1F8 (STK11IP) V I 552 rs673951 Benign
50820 Q8N1F8 (STK11IP) S F 741 rs627530 Benign
50821 Q8N1F8 (STK11IP) I V 1074 rs17853279 Benign
50822 Q8N1G0 (ZNF687) G E 259 rs3748545 Benign
50823 Q8N1G0 (ZNF687) R T 344 rs12045766 Benign
50824 Q8N1G0 (ZNF687) P R 937 rs148402804 Disease: Paget disease of bone 6 (PDB6) [MIM:616833]
50825 Q8N1G1 (REXO1) V A 408 rs10415018 Benign
50826 Q8N1G1 (REXO1) S P 759 rs4807145 Benign
50827 Q8N1G1 (REXO1) I V 804 rs34831403 Benign
50828 Q8N1G1 (REXO1) S G 886 rs2396359 Benign
50829 Q8N1G4 (LRRC47) P L 545 rs11547614 Benign
50830 Q8N1G4 (LRRC47) V I 581 rs11547615 Benign
50831 Q8N1H7 (SIX6OS1) Y C 125 rs1956551 Benign
50832 Q8N1H7 (SIX6OS1) S L 309 rs1033734 Benign
50833 Q8N1H7 (SIX6OS1) V I 404 rs11625921 Benign
50834 Q8N1I0 (DOCK4) T I 87 rs1396518456 Benign
50835 Q8N1I0 (DOCK4) N D 535 rs12705801 Benign
50836 Q8N1I0 (DOCK4) E Q 606 - Benign
50837 Q8N1I0 (DOCK4) R H 853 rs2074130 Benign
50838 Q8N1I0 (DOCK4) R K 1570 rs3757650 Benign
50839 Q8N1I0 (DOCK4) F L 1580 rs3757651 Benign
50840 Q8N1I0 (DOCK4) P A 1733 rs150569245 Benign
50841 Q8N1I0 (DOCK4) Q K 1822 rs10281942 Benign
50842 Q8N1I0 (DOCK4) V M 1884 rs369715294 Benign
50843 Q8N1I0 (DOCK4) V I 1914 rs12705795 Benign
50844 Q8N1I0 (DOCK4) P L 1917 rs199706346 Benign
50845 Q8N1I0 (DOCK4) S L 1926 rs34597439 Benign
50846 Q8N1K5 (THEMIS) V G 284 rs11968051 Benign
50847 Q8N1K5 (THEMIS) I V 630 rs675531 Benign
50848 Q8N1L9 (BATF2) G S 6 rs12419103 Benign
50849 Q8N1M1 (BEST3) Y H 43 rs1025016 Benign
50850 Q8N1M1 (BEST3) E G 622 rs17106884 Benign
50851 Q8N1N0 (CLEC4F) R Q 101 rs2075221 Benign
50852 Q8N1N0 (CLEC4F) R H 351 rs722896 Benign
50853 Q8N1N0 (CLEC4F) K R 564 rs2287101 Benign
50854 Q8N1N2 (DYNAP) V A 38 rs35428499 Benign
50855 Q8N1N2 (DYNAP) T P 189 rs9947055 Benign
50856 Q8N1N4 (KRT78) R H 25 rs11170289 Benign
50857 Q8N1N4 (KRT78) L P 92 rs2013335 Benign
50858 Q8N1N4 (KRT78) G A 224 rs2682343 Benign
50859 Q8N1N4 (KRT78) A T 238 rs10876360 Benign
50860 Q8N1N5 (CRIPAK) C Y 89 rs13097 Benign
50861 Q8N1N5 (CRIPAK) H P 95 rs9328733 Benign
50862 Q8N1N5 (CRIPAK) H R 95 rs9328733 Benign
50863 Q8N1N5 (CRIPAK) V M 120 rs141796647 Benign
50864 Q8N1P7 (CRYBG2) S N 1294 rs10751735 Benign
50865 Q8N1Q1 (CA13) N S 68 rs4740046 Benign
50866 Q8N1Q8 (THEM5) Y S 55 rs16833597 Benign
50867 Q8N1Q8 (THEM5) D G 197 rs6587625 Benign
50868 Q8N1Q8 (THEM5) L V 206 rs6587624 Benign
50869 Q8N1S5 (SLC39A11) T A 111 rs2466517 Benign
50870 Q8N1T3 (MYO1H) S R 37 rs11611277 Benign
50871 Q8N1T3 (MYO1H) H Y 705 rs34725387 Benign
50872 Q8N1T3 (MYO1H) L P 1011 rs3825393 Benign
50873 Q8N1V2 (CFAP52) E K 336 rs6503235 Benign
50874 Q8N1W1 (ARHGEF28) R M 98 rs12659447 Benign
50875 Q8N1W1 (ARHGEF28) W R 225 rs7714670 Benign
50876 Q8N1W1 (ARHGEF28) P Q 284 rs6453022 Benign
50877 Q8N1W1 (ARHGEF28) S L 544 rs2973571 Benign
50878 Q8N1W1 (ARHGEF28) R K 585 rs2973566 Benign
50879 Q8N1W1 (ARHGEF28) H N 780 rs2973558 Benign
50880 Q8N1W1 (ARHGEF28) P S 1548 rs17634865 Benign
50881 Q8N1W1 (ARHGEF28) H Q 1640 rs1478453 Benign
50882 Q8N201 (INTS1) P L 172 rs3752714 Benign
50883 Q8N201 (INTS1) M V 549 - Disease: Neurodevelop mental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF) [MIM:618571]
50884 Q8N205 (SYNE4) S L 224 rs34818970 Benign
50885 Q8N205 (SYNE4) Q H 278 rs2285422 Benign
50886 Q8N228 (SCML4) R Q 126 rs6934505 Benign
50887 Q8N271 (PROM2) Q R 508 rs12992066 Benign
50888 Q8N283 (ANKRD35) N K 53 rs6658371 Benign
50889 Q8N283 (ANKRD35) P S 428 rs6670984 Benign
50890 Q8N283 (ANKRD35) R Q 592 rs41315701 Benign
50891 Q8N283 (ANKRD35) N D 978 rs16827032 Benign
50892 Q8N292 (GAPT) A T 83 rs35260984 Benign
50893 Q8N2A8 (PLD6) L P 42 rs17856924 Benign
50894 Q8N2A8 (PLD6) R H 108 rs11551966 Benign
50895 Q8N2C3 (DEPDC4) H R 122 rs7307415 Benign
50896 Q8N2C7 (UNC80) R W 131 rs35822936 Benign
50897 Q8N2C7 (UNC80) V M 189 rs864321623 Disease: Hypotonia, infantile, with psychomotor retardation and characterist ic facies 2 (IHPRF2) [MIM:616801]
50898 Q8N2C7 (UNC80) D G 1505 rs4673492 Benign
50899 Q8N2C7 (UNC80) P S 1700 rs869025316 Disease: Hypotonia, infantile, with psychomotor retardation and characterist ic facies 2 (IHPRF2) [MIM:616801]
50900 Q8N2C9 (UMODL1-AS) V F 98 rs220111 Benign
50901 Q8N2E2 (VWDE) S F 607 rs963323 Benign
50902 Q8N2E2 (VWDE) K N 964 rs6460939 Benign
50903 Q8N2E2 (VWDE) T M 1032 rs2053380 Benign
50904 Q8N2E2 (VWDE) Q K 1256 rs6967385 Benign
50905 Q8N2E2 (VWDE) F C 1485 rs2192828 Benign
50906 Q8N2F6 (ARMC10) P S 190 rs17849774 Benign
50907 Q8N2G6 (ZCCHC24) E V 43 rs17852581 Benign
50908 Q8N2H3 (PYROXD2) P S 428 rs17856170 Benign
50909 Q8N2H3 (PYROXD2) M T 461 rs2147896 Benign
50910 Q8N2H3 (PYROXD2) A T 533 rs2296441 Benign
50911 Q8N2H9 (PELI3) V M 287 rs34989499 Benign
50912 Q8N2I9 (STK40) A V 10 rs56314546 Benign
50913 Q8N2I9 (STK40) A T 395 rs3795498 Benign
50914 Q8N2K0 (ABHD12) T R 253 rs772987424 Disease: Polyneuropat hy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
50915 Q8N2K0 (ABHD12) A T 349 rs746748 Benign
50916 Q8N2M4 (TMEM86A) V A 215 rs7945285 Benign
50917 Q8N2M8 (CLASRP) K E 174 rs4803794 Benign
50918 Q8N2N9 (ANKRD36B) E G 483 rs1839230 Benign
50919 Q8N2N9 (ANKRD36B) E D 496 rs13001728 Benign
50920 Q8N2N9 (ANKRD36B) S A 534 rs6761299 Benign
50921 Q8N2S1 (LTBP4) V I 194 rs2303729 Benign
50922 Q8N2S1 (LTBP4) C G 311 rs267607229 Disease: Urban- Rifkin-Davis syndrome (URDS) [MIM:613177]
50923 Q8N2S1 (LTBP4) R G 635 rs33937741 Benign
50924 Q8N2S1 (LTBP4) P A 679 rs34299942 Benign
50925 Q8N2S1 (LTBP4) T A 787 rs1131620 Benign
50926 Q8N2S1 (LTBP4) T A 820 rs1051303 Benign
50927 Q8N2S1 (LTBP4) T M 1141 rs10880 Benign
50928 Q8N2X6 (EXOC3-AS1) P S 50 rs10035653 Benign
50929 Q8N2X6 (EXOC3-AS1) R G 118 rs10035612 Benign
50930 Q8N2Y8 (RUSC2) T A 73 rs1535422 Benign
50931 Q8N2Y8 (RUSC2) P L 654 rs3750427 Benign
50932 Q8N302 (AGGF1) E K 133 rs34203073 Disease: Klippel- Trenaunay syndrome (KTS) [MIM:149000]
50933 Q8N302 (AGGF1) T A 180 rs9715897 Benign
50934 Q8N302 (AGGF1) L P 471 rs17856835 Benign
50935 Q8N302 (AGGF1) P T 698 rs34400049 Benign
50936 Q8N307 (MUC20) C S 3 rs7627924 Benign
50937 Q8N307 (MUC20) V G 18 rs1811139 Benign
50938 Q8N307 (MUC20) T I 442 rs2550232 Benign
50939 Q8N307 (MUC20) G R 514 rs3828410 Benign
50940 Q8N307 (MUC20) P L 590 rs3828408 Benign
50941 Q8N307 (MUC20) R W 666 rs11923495 Benign
50942 Q8N307 (MUC20) S C 671 rs3762739 Benign
50943 Q8N309 (LRRC43) Q K 256 rs11060094 Benign
50944 Q8N319 (C6orf223) K E 48 rs2295333 Benign
50945 Q8N319 (C6orf223) V M 107 rs60336135 Benign
50946 Q8N323 (NXPE1) G R 353 rs10891692 Benign
50947 Q8N323 (NXPE1) I T 423 rs34993124 Benign
50948 Q8N326 (RPP38-DT) R K 70 rs7896053 Benign
50949 Q8N328 (PGBD3) R K 382 rs4253072 Benign
50950 Q8N328 (PGBD3) Q E 446 rs11101143 Benign
50951 Q8N335 (GPD1L) L F 178 rs35447795 Benign
50952 Q8N339 (MT1M) T K 20 rs1827210 Benign
50953 Q8N344 (MIER2) D N 68 rs7507468 Benign
50954 Q8N344 (MIER2) D N 104 rs10421231 Benign
50955 Q8N344 (MIER2) P S 464 rs34129568 Benign
50956 Q8N344 (MIER2) S G 485 rs35042658 Benign
50957 Q8N349 (OR2L13) L F 156 rs12742561 Benign
50958 Q8N349 (OR2L13) R H 265 rs45577033 Benign
50959 Q8N371 (KDM8) E D 302 rs34445573 Benign
50960 Q8N386 (LRRC25) P T 234 rs34439430 Benign
50961 Q8N386 (LRRC25) P S 294 rs6512265 Benign
50962 Q8N387 (MUC15) S W 19 rs293979 Benign
50963 Q8N387 (MUC15) I T 184 rs2292290 Benign
50964 Q8N387 (MUC15) T I 202 rs15783 Benign
50965 Q8N392 (ARHGAP18) T A 23 rs3752536 Benign
50966 Q8N392 (ARHGAP18) N S 91 rs11544371 Benign
50967 Q8N392 (ARHGAP18) Q H 165 rs11544372 Benign
50968 Q8N394 (TMTC2) A T 315 rs1201791 Benign
50969 Q8N394 (TMTC2) Y S 443 rs17010106 Benign
50970 Q8N394 (TMTC2) D Y 741 rs428398 Benign
50971 Q8N398 (VWA5B2) P S 200 rs902417 Benign
50972 Q8N3C0 (ASCC3) L F 146 rs9390698 Benign
50973 Q8N3C0 (ASCC3) E K 344 rs6918004 Benign
50974 Q8N3C0 (ASCC3) N S 478 rs7750940 Benign
50975 Q8N3C0 (ASCC3) S C 1016 rs57534235 Benign
50976 Q8N3C0 (ASCC3) V I 1050 rs9497983 Benign
50977 Q8N3C0 (ASCC3) V A 1425 rs17246013 Benign
50978 Q8N3C0 (ASCC3) R T 1497 rs17305382 Benign
50979 Q8N3C0 (ASCC3) C W 1800 rs35011147 Benign
50980 Q8N3C0 (ASCC3) V M 1930 rs3213542 Benign
50981 Q8N3C0 (ASCC3) S C 1995 rs240780 Benign
50982 Q8N3C0 (ASCC3) Y C 2176 rs240768 Benign
50983 Q8N3C7 (CLIP4) R L 486 rs3100246 Benign
50984 Q8N3C7 (CLIP4) T P 613 rs34327508 Benign
50985 Q8N3D4 (EHBP1L1) V L 133 rs1194100 Benign
50986 Q8N3D4 (EHBP1L1) R Q 307 rs3741380 Benign
50987 Q8N3D4 (EHBP1L1) V G 538 rs6591182 Benign
50988 Q8N3D4 (EHBP1L1) D V 569 rs1194099 Benign
50989 Q8N3D4 (EHBP1L1) T I 599 rs7931052 Benign
50990 Q8N3D4 (EHBP1L1) T I 648 rs7931269 Benign
50991 Q8N3E9 (PLCD3) P L 652 rs734921 Benign
50992 Q8N3F8 (MICALL1) A S 519 rs9610875 Benign
50993 Q8N3F8 (MICALL1) P L 583 rs2272829 Benign
50994 Q8N3F8 (MICALL1) H R 685 rs34834842 Benign
50995 Q8N3F9 (GPR137C) V I 248 rs762063 Benign
50996 Q8N3G9 (TMEM130) E V 407 rs17161477 Benign
50997 Q8N3I7 (BBS5) G S 72 rs121908581 Disease: Bardet-Biedl syndrome 5 (BBS5) [MIM:615983]
50998 Q8N3I7 (BBS5) T A 183 rs121908582 Disease: Bardet-Biedl syndrome 5 (BBS5) [MIM:615983]
50999 Q8N3I7 (BBS5) N S 184 rs137853921 Benign
51000 Q8N3I7 (BBS5) R H 207 rs35487251 Benign
51001 Q8N3I7 (BBS5) N D 251 rs143113298 Benign
51002 Q8N3J2 (METTL4) L F 163 rs12606220 Benign
51003 Q8N3J2 (METTL4) E D 230 rs34143130 Benign
51004 Q8N3J2 (METTL4) Q K 310 rs2677879 Benign
51005 Q8N3J2 (METTL4) V L 468 rs8084295 Benign
51006 Q8N3J3 (HROB) T P 126 rs227584 Benign
51007 Q8N3J5 (PPM1K) R H 26 rs369916009 Benign
51008 Q8N3J5 (PPM1K) N K 94 rs17853762 Benign
51009 Q8N3J5 (PPM1K) E K 321 rs35523553 Benign
51010 Q8N3K9 (CMYA5) Y C 64 rs16877109 Benign
51011 Q8N3K9 (CMYA5) Q H 175 rs6895605 Benign
51012 Q8N3K9 (CMYA5) D G 190 rs10942901 Benign
51013 Q8N3K9 (CMYA5) G D 349 rs1366271 Benign
51014 Q8N3K9 (CMYA5) G D 591 rs16877124 Benign
51015 Q8N3K9 (CMYA5) S R 651 rs57544556 Benign
51016 Q8N3K9 (CMYA5) V A 1006 rs6893869 Benign
51017 Q8N3K9 (CMYA5) A V 1295 rs4704585 Benign
51018 Q8N3K9 (CMYA5) I V 1309 rs16877133 Benign
51019 Q8N3K9 (CMYA5) A V 1333 rs16877135 Benign
51020 Q8N3K9 (CMYA5) I V 1380 rs13158477 Benign
51021 Q8N3K9 (CMYA5) A E 1567 rs1428223 Benign
51022 Q8N3K9 (CMYA5) S A 1599 rs1428224 Benign
51023 Q8N3K9 (CMYA5) L S 1669 rs1019762 Benign
51024 Q8N3K9 (CMYA5) I N 1713 rs16877141 Benign
51025 Q8N3K9 (CMYA5) I V 1721 rs1428225 Benign
51026 Q8N3K9 (CMYA5) A V 1875 rs16877147 Benign
51027 Q8N3K9 (CMYA5) D G 1917 rs16877150 Benign
51028 Q8N3K9 (CMYA5) S G 1920 rs16877151 Benign
51029 Q8N3K9 (CMYA5) V L 2262 rs6859595 Benign
51030 Q8N3K9 (CMYA5) K E 2383 rs7721884 Benign
51031 Q8N3K9 (CMYA5) T I 2693 rs28362541 Benign
51032 Q8N3K9 (CMYA5) K N 2906 rs2278239 Benign
51033 Q8N3K9 (CMYA5) G R 2935 rs2278240 Benign
51034 Q8N3K9 (CMYA5) H Q 3358 rs3828611 Benign
51035 Q8N3K9 (CMYA5) K E 3583 rs12514461 Benign
51036 Q8N3K9 (CMYA5) R Q 3927 rs1129770 Benign
51037 Q8N3K9 (CMYA5) P L 4063 rs10043986 Benign
51038 Q8N3L3 (TXLNB) A T 11 rs9321712 Benign
51039 Q8N3L3 (TXLNB) V M 348 rs17068451 Benign
51040 Q8N3L3 (TXLNB) I T 527 rs9495392 Benign
51041 Q8N3L3 (TXLNB) A P 602 rs9495391 Benign
51042 Q8N3P4 (VPS8) I V 83 rs9830734 Benign
51043 Q8N3P4 (VPS8) H Y 1165 rs11555405 Benign
51044 Q8N3P4 (VPS8) I T 1364 rs3821750 Benign
51045 Q8N3P4 (VPS8) R H 1372 rs16859527 Benign
51046 Q8N3R3 (TCAIM) H P 4 rs35830741 Benign
51047 Q8N3T1 (GALNT15) V G 68 rs36026882 Benign
51048 Q8N3T1 (GALNT15) P L 151 rs11715981 Benign
51049 Q8N3T1 (GALNT15) P A 324 rs12634179 Benign
51050 Q8N3T1 (GALNT15) A T 432 rs17851238 Benign
51051 Q8N3T1 (GALNT15) H Y 510 rs2271077 Benign
51052 Q8N3T6 (TMEM132C) H R 161 rs11059681 Benign
51053 Q8N3T6 (TMEM132C) V M 232 rs12307622 Benign
51054 Q8N3T6 (TMEM132C) V I 272 rs1683723 Benign
51055 Q8N3T6 (TMEM132C) V I 444 rs4272850 Benign
51056 Q8N3T6 (TMEM132C) T S 730 rs12426596 Benign
51057 Q8N3T6 (TMEM132C) F I 799 rs12301587 Benign
51058 Q8N3T6 (TMEM132C) G R 810 rs12424159 Benign
51059 Q8N3U4 (STAG2) Y C 159 - Disease: Neurodevelop mental disorder, X-linked, with craniofacial abnormalitie s (NEDXCF) [MIM:301022]
51060 Q8N3U4 (STAG2) S N 327 - Disease: Neurodevelop mental disorder, X-linked, with craniofacial abnormalitie s (NEDXCF) [MIM:301022]
51061 Q8N3U4 (STAG2) N K 699 rs6655782 Benign
51062 Q8N3U4 (STAG2) K N 1009 - Disease: Neurodevelop mental disorder, X-linked, with craniofacial abnormalitie s (NEDXCF) [MIM:301022]
51063 Q8N3X1 (FNBP4) E G 125 rs34962598 Benign
51064 Q8N3X1 (FNBP4) T A 794 rs35040940 Benign
51065 Q8N3Y1 (FBXW8) R Q 192 rs4076700 Benign
51066 Q8N3Y1 (FBXW8) T A 211 rs36021180 Benign
51067 Q8N3Y1 (FBXW8) T M 536 rs3741466 Benign
51068 Q8N3Y1 (FBXW8) V M 563 rs56350562 Benign
51069 Q8N3Y3 (LARGE2) E K 37 rs17853729 Benign
51070 Q8N3Y3 (LARGE2) R W 546 rs11038713 Benign
51071 Q8N3Y3 (LARGE2) R C 677 rs2271851 Benign
51072 Q8N3Y7 (SDR16C5) R W 62 rs4151643 Benign
51073 Q8N3Z0 (PRSS35) R Q 224 rs504593 Benign
51074 Q8N3Z3 (GTPBP8) Q H 242 rs1054263 Benign
51075 Q8N3Z6 (ZCCHC7) G D 118 rs35119826 Benign
51076 Q8N3Z6 (ZCCHC7) R K 539 rs1051465 Benign
51077 Q8N402 (-) P L 97 rs12169718 Benign
51078 Q8N402 (-) T S 114 rs6519443 Benign
51079 Q8N402 (-) T P 131 rs6519442 Benign
51080 Q8N412 (STPG2) C W 111 rs13131259 Benign
51081 Q8N412 (STPG2) F V 112 rs13131258 Benign
51082 Q8N412 (STPG2) Y H 125 rs17558193 Benign
51083 Q8N412 (STPG2) I V 178 rs2903150 Benign
51084 Q8N412 (STPG2) K R 279 rs7654193 Benign
51085 Q8N412 (STPG2) V A 420 rs17026871 Benign
51086 Q8N413 (SLC25A45) M V 224 rs624307 Benign
51087 Q8N413 (SLC25A45) R Q 251 rs7108281 Benign
51088 Q8N423 (LILRB2) H R 20 rs383369 Benign
51089 Q8N423 (LILRB2) E D 161 rs373032 Benign
51090 Q8N423 (LILRB2) V M 235 rs386056 Benign
51091 Q8N423 (LILRB2) H Y 300 rs7247538 Benign
51092 Q8N423 (LILRB2) C W 306 rs7247451 Benign
51093 Q8N423 (LILRB2) R H 322 rs1128646 Benign
51094 Q8N423 (LILRB2) T R 324 rs7247055 Benign
51095 Q8N423 (LILRB2) F S 326 rs7246737 Benign
51096 Q8N423 (LILRB2) R G 349 rs7247025 Benign
51097 Q8N423 (LILRB2) D N 403 rs4993133 Benign
51098 Q8N427 (NME8) R K 43 rs2722372 Benign
51099 Q8N427 (NME8) C R 208 rs10250905 Benign
51100 Q8N427 (NME8) I T 493 rs56128139 Benign
51101 Q8N428 (GALNT16) V M 201 rs12879377 Benign
51102 Q8N428 (GALNT16) P S 497 rs59840366 Benign
51103 Q8N434 (SVOPL) F C 385 rs2305816 Benign
51104 Q8N436 (CPXM2) Q R 750 rs7088479 Benign
51105 Q8N441 (FGFRL1) P Q 362 rs4647930 Benign
51106 Q8N441 (FGFRL1) P L 464 rs4647932 Benign
51107 Q8N442 (GUF1) L P 58 rs6447368 Benign
51108 Q8N442 (GUF1) T I 329 rs10470742 Benign
51109 Q8N442 (GUF1) A S 609 rs879255631 Disease: Epileptic encephalopat hy, early infantile, 40 (EIEE40) [MIM:617065]
51110 Q8N448 (LNX2) S P 198 rs8002697 Benign
51111 Q8N456 (LRRC18) G V 7 rs7094610 Benign
51112 Q8N456 (LRRC18) R H 31 rs17772611 Benign
51113 Q8N461 (FBXL16) L P 429 rs17855603 Benign
51114 Q8N465 (D2HGDH) R G 15 rs4675887 Benign
51115 Q8N465 (D2HGDH) I S 147 rs121434361 Disease: D-2-hydroxyg lutaric aciduria 1 (D2HGA1) [MIM:600721]
51116 Q8N465 (D2HGDH) V I 338 rs1106639 Benign
51117 Q8N465 (D2HGDH) A V 361 rs1105273 Benign
51118 Q8N465 (D2HGDH) D Y 375 rs267606759 Disease: D-2-hydroxyg lutaric aciduria 1 (D2HGA1) [MIM:600721]
51119 Q8N465 (D2HGDH) G V 436 - Benign
51120 Q8N465 (D2HGDH) N D 439 rs121434362 Disease: D-2-hydroxyg lutaric aciduria 1 (D2HGA1) [MIM:600721]
51121 Q8N465 (D2HGDH) V A 444 rs121434360 Disease: D-2-hydroxyg lutaric aciduria 1 (D2HGA1) [MIM:600721]
51122 Q8N468 (MFSD4A) L I 228 rs17857119 Benign
51123 Q8N468 (MFSD4A) G A 314 rs7526132 Benign
51124 Q8N475 (FSTL5) D Y 711 rs3749598 Benign
51125 Q8N475 (FSTL5) K E 815 rs17040982 Benign
51126 Q8N485 (LIX1) R I 3 rs11558079 Benign
51127 Q8N490 (PNKD) A V 7 rs121434512 Disease: Dystonia 8 (DYT8) [MIM:118800]
51128 Q8N490 (PNKD) A V 9 rs121434511 Disease: Dystonia 8 (DYT8) [MIM:118800]
51129 Q8N4A0 (GALNT4) D G 51 rs17853610 Benign
51130 Q8N4A0 (GALNT4) I T 270 rs2230281 Benign
51131 Q8N4A0 (GALNT4) V I 506 rs2230283 Benign
51132 Q8N4B4 (FBXO39) P S 10 rs4796555 Benign
51133 Q8N4B4 (FBXO39) Y C 166 rs16956264 Benign
51134 Q8N4B4 (FBXO39) S T 221 rs4143218 Benign
51135 Q8N4B4 (FBXO39) L F 231 rs1509123 Benign
51136 Q8N4B4 (FBXO39) I M 363 rs7213731 Benign
51137 Q8N4B5 (PRR18) C S 136 rs7757150 Benign
51138 Q8N4C6 (NIN) P A 1111 rs2236316 Benign
51139 Q8N4C6 (NIN) Q P 1125 rs12882191 Benign
51140 Q8N4C6 (NIN) Q R 1222 rs187464517 Disease: Seckel syndrome 7 (SCKL7) [MIM:614851]
51141 Q8N4C6 (NIN) G E 1320 rs2073347 Benign
51142 Q8N4C6 (NIN) N S 1709 rs387907308 Disease: Seckel syndrome 7 (SCKL7) [MIM:614851]
51143 Q8N4C6 (NIN) S T 1837 rs12717411 Benign
51144 Q8N4C6 (NIN) Q E 1934 rs2295847 Benign
51145 Q8N4C8 (MINK1) A T 514 rs56131206 Benign
51146 Q8N4C8 (MINK1) V A 771 rs11556634 Benign
51147 Q8N4C8 (MINK1) P L 775 rs11556635 Benign
51148 Q8N4C8 (MINK1) V I 863 rs2302319 Benign
51149 Q8N4C8 (MINK1) I V 1200 - Benign
51150 Q8N4C9 (C17orf78) T S 152 rs1714987 Benign
51151 Q8N4F0 (BPIFB2) K M 31 rs6088066 Benign
51152 Q8N4F0 (BPIFB2) A V 63 rs34128772 Benign
51153 Q8N4F7 (RNF175) M V 159 rs10517577 Benign
51154 Q8N4F7 (RNF175) L F 307 rs1337 Benign
51155 Q8N4F7 (RNF175) I M 315 rs1339 Benign
51156 Q8N4F7 (RNF175) I N 322 rs2405432 Benign
51157 Q8N4G2 (ARL14) D N 83 rs35634980 Benign
51158 Q8N4G2 (ARL14) P T 117 rs35633732 Benign
51159 Q8N4H0 (SPATA6L) R G 243 rs10974657 Benign
51160 Q8N4H0 (SPATA6L) A T 310 rs16921613 Benign
51161 Q8N4M1 (SLC44A3) V I 438 rs859098 Benign
51162 Q8N4N8 (KIF2B) A V 112 rs3803824 Benign
51163 Q8N4N8 (KIF2B) G R 128 rs9912492 Benign
51164 Q8N4N8 (KIF2B) P S 148 rs59657238 Benign
51165 Q8N4N8 (KIF2B) P S 417 rs4561518 Benign
51166 Q8N4N8 (KIF2B) R G 437 rs4561519 Benign
51167 Q8N4P2 (TTC30B) R H 117 rs11694988 Benign
51168 Q8N4P2 (TTC30B) I V 446 rs2695315 Benign
51169 Q8N4P6 (LRRC71) R H 483 rs12119908 Benign
51170 Q8N4P6 (LRRC71) S A 503 rs822431 Benign
51171 Q8N4P6 (LRRC71) A T 533 rs11264585 Benign
51172 Q8N4Q0 (ZADH2) C F 323 rs17056661 Benign
51173 Q8N4S0 (CCDC82) K R 128 rs3748261 Benign
51174 Q8N4S0 (CCDC82) Q E 149 rs17851661 Benign
51175 Q8N4S0 (CCDC82) Q R 327 rs10831519 Benign
51176 Q8N4S9 (MARVELD2) T I 33 rs1185246 Benign
51177 Q8N4T0 (CPA6) F L 45 rs10957393 Benign
51178 Q8N4T0 (CPA6) S C 173 rs17853192 Benign
51179 Q8N4T0 (CPA6) N S 249 rs17343819 Benign
51180 Q8N4T0 (CPA6) G R 267 rs61738009 Disease: Epilepsy, familial temporal lobe, 5 (ETL5) [MIM:614417]
51181 Q8N4T0 (CPA6) A V 270 rs114402678 Disease: Febrile seizures, familial, 11 (FEB11) [MIM:614418]
51182 Q8N4T4 (ARHGEF39) C F 5 rs45567235 Benign
51183 Q8N4T4 (ARHGEF39) H R 306 rs2297879 Benign
51184 Q8N4T8 (CBR4) L M 70 rs2877380 Benign
51185 Q8N4U5 (TCP11L2) A T 41 rs4964460 Benign
51186 Q8N4U5 (TCP11L2) A S 82 rs11837375 Benign
51187 Q8N4U5 (TCP11L2) D N 261 rs17218950 Benign
51188 Q8N4W9 (ZNF808) K N 134 rs329964 Benign
51189 Q8N4W9 (ZNF808) D N 262 rs329965 Benign
51190 Q8N4X5 (AFAP1L2) G R 138 rs11196689 Benign
51191 Q8N4X5 (AFAP1L2) S R 366 rs7075067 Benign
51192 Q8N4X5 (AFAP1L2) T S 522 rs2781806 Benign
51193 Q8N4X5 (AFAP1L2) E K 726 rs11599051 Benign
51194 Q8N4Y2 (CRACR2B) R Q 77 rs7126805 Benign
51195 Q8N4Y2 (CRACR2B) K E 153 rs28558789 Benign
51196 Q8N4Y2 (CRACR2B) G S 173 rs35567200 Benign
51197 Q8N4Y2 (CRACR2B) S I 248 rs4075289 Benign
51198 Q8N511 (TMEM199) A G 7 rs369488804 Disease: Congenital disorder of glycosylatio n 2P (CDG2P) [MIM:616829]
51199 Q8N511 (TMEM199) A P 14 rs869025586 Disease: Congenital disorder of glycosylatio n 2P (CDG2P) [MIM:616829]
51200 Q8N511 (TMEM199) R P 31 rs782531869 Disease: Congenital disorder of glycosylatio n 2P (CDG2P) [MIM:616829]
51201 Q8N511 (TMEM199) V I 158 rs12572 Benign
51202 Q8N511 (TMEM199) L V 166 rs36106147 Benign
51203 Q8N543 (OGFOD1) P S 173 rs34883368 Benign
51204 Q8N554 (ZNF276) W R 263 rs6500437 Benign
51205 Q8N554 (ZNF276) R W 351 rs17719249 Benign
51206 Q8N554 (ZNF276) E D 605 rs17227424 Benign
51207 Q8N556 (AFAP1) S C 403 rs28406288 Benign
51208 Q8N556 (AFAP1) V M 518 rs41264705 Benign
51209 Q8N565 (MREG) G R 15 rs1864253 Benign
51210 Q8N567 (ZCCHC9) P A 15 rs16878594 Benign
51211 Q8N568 (DCLK2) G C 119 rs56327537 Benign
51212 Q8N568 (DCLK2) R H 372 rs34386880 Benign
51213 Q8N568 (DCLK2) I V 583 rs35745104 Benign
51214 Q8N573 (OXR1) E G 100 rs28921397 Benign
51215 Q8N573 (OXR1) Q P 360 rs28921419 Benign
51216 Q8N573 (OXR1) K R 516 rs28921420 Benign
51217 Q8N5A5 (ZGPAT) S R 61 rs1291212 Benign
51218 Q8N5B7 (CERS5) C R 75 rs7302981 Benign
51219 Q8N5C6 (SRBD1) T M 361 rs6544834 Benign
51220 Q8N5C6 (SRBD1) V F 798 rs3755073 Benign
51221 Q8N5C6 (SRBD1) K R 811 rs3755072 Benign
51222 Q8N5C7 (DTWD1) L P 9 rs11539522 Benign
51223 Q8N5C7 (DTWD1) E K 13 rs11539519 Benign
51224 Q8N5C7 (DTWD1) S P 25 rs11539521 Benign
51225 Q8N5C8 (TAB3) R W 394 rs5927629 Benign
51226 Q8N5D6 (GBGT1) L F 20 rs2073924 Benign
51227 Q8N5D6 (GBGT1) S G 21 rs35578482 Benign
51228 Q8N5D6 (GBGT1) L P 79 rs12350913 Benign
51229 Q8N5D6 (GBGT1) R W 163 rs34260370 Benign
51230 Q8N5D6 (GBGT1) D N 200 rs34903033 Benign
51231 Q8N5D6 (GBGT1) Q P 238 rs35366884 Benign
51232 Q8N5D6 (GBGT1) T I 248 rs35184631 Benign
51233 Q8N5D6 (GBGT1) I F 291 rs35403335 Benign
51234 Q8N5F7 (NKAP) P H 115 rs34728541 Benign
51235 Q8N5G0 (SMIM20) A T 8 rs4521339 Benign
51236 Q8N5H7 (SH2D3C) L F 23 rs10760500 Benign
51237 Q8N5I2 (ARRDC1) G C 363 rs35018943 Benign
51238 Q8N5I4 (DHRSX) V L 247 rs1127915 Benign
51239 Q8N5I4 (DHRSX) H R 292 rs3210910 Benign
51240 Q8N5I4 (DHRSX) E K 297 rs12010 Benign
51241 Q8N5I9 (C12orf45) G S 5 rs12580271 Benign
51242 Q8N5I9 (C12orf45) K Q 8 rs1129593 Benign
51243 Q8N5J2 (MINDY1) T K 385 rs2925741 Benign
51244 Q8N5M1 (ATPAF2) W R 94 rs104894554 Disease: Mitochondria l complex V deficiency, nuclear type 1 (MC5DN1) [MIM:604273]
51245 Q8N5M9 (JAGN1) G S 14 rs786205704 Disease: Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
51246 Q8N5M9 (JAGN1) R Q 20 rs777966677 Disease: Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
51247 Q8N5M9 (JAGN1) E D 21 rs587777729 Disease: Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
51248 Q8N5M9 (JAGN1) H Y 44 rs587777728 Disease: Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
51249 Q8N5M9 (JAGN1) Q R 162 rs587777730 Disease: Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
51250 Q8N5N7 (MRPL50) L F 127 rs8131 Benign
51251 Q8N5P1 (ZC3H8) C W 240 rs35782954 Benign
51252 Q8N5R6 (CCDC33) M V 635 rs2277603 Benign
51253 Q8N5R6 (CCDC33) R L 640 rs2277604 Benign
51254 Q8N5R6 (CCDC33) S N 683 rs1564782 Benign
51255 Q8N5S1 (SLC25A41) G S 144 rs34488963 Benign
51256 Q8N5S1 (SLC25A41) T S 258 rs11883242 Benign
51257 Q8N5S3 (C2orf73) H N 29 rs55714450 Benign
51258 Q8N5S3 (C2orf73) P L 254 rs2280718 Benign
51259 Q8N5S3 (C2orf73) R T 275 rs13184 Benign
51260 Q8N5S9 (CAMKK1) E G 375 rs7214723 Benign
51261 Q8N5T2 (TBC1D19) S G 241 rs16878555 Benign
51262 Q8N5T2 (TBC1D19) S F 509 rs17852970 Benign
51263 Q8N5U0 (C11orf42) P S 242 rs10769671 Benign
51264 Q8N5U1 (MS4A15) S G 20 rs12363342 Benign
51265 Q8N5U1 (MS4A15) L R 47 rs1032939 Benign
51266 Q8N5U6 (RNF10) L F 332 rs17852961 Benign
51267 Q8N5U6 (RNF10) E D 433 rs16950277 Benign
51268 Q8N5V2 (NGEF) R G 78 rs2271703 Benign
51269 Q8N5V2 (NGEF) M T 111 rs4973588 Benign
51270 Q8N5W8 (FAM24B) P L 2 rs1891110 Benign
51271 Q8N5Y2 (MSL3) S T 2 rs150938844 Benign
51272 Q8N5Y2 (MSL3) K Q 199 rs1051595 Benign
51273 Q8N5Y8 (PARP16) S P 280 rs17852901 Benign
51274 Q8N5Z0 (AADAT) V I 243 rs56350236 Benign
51275 Q8N5Z5 (KCTD17) R G 51 rs17852877 Benign
51276 Q8N5Z5 (KCTD17) R H 145 rs786205860 Disease: Dystonia 26, myoclonic (DYT26) [MIM:616398]
51277 Q8N608 (DPP10) A P 340 rs2053724 Benign
51278 Q8N608 (DPP10) V I 401 rs1446495 Benign
51279 Q8N608 (DPP10) S N 517 rs13421193 Benign
51280 Q8N612 (FAM160A2) R W 462 rs35932378 Benign
51281 Q8N612 (FAM160A2) T M 491 rs3750944 Benign
51282 Q8N612 (FAM160A2) R L 619 rs3750943 Benign
51283 Q8N612 (FAM160A2) Q H 754 rs11040808 Benign
51284 Q8N614 (TMEM156) Y C 48 rs35576563 Benign
51285 Q8N614 (TMEM156) S P 105 rs11542133 Benign
51286 Q8N614 (TMEM156) M T 212 rs2276887 Benign
51287 Q8N628 (OR2C3) T A 20 rs6697472 Benign
51288 Q8N628 (OR2C3) P S 68 rs6657127 Benign
51289 Q8N628 (OR2C3) R S 129 rs34220133 Benign
51290 Q8N628 (OR2C3) L V 289 rs6702693 Benign
51291 Q8N635 (MEIOB) T P 18 rs1742446 Benign
51292 Q8N635 (MEIOB) N I 64 rs1555472691 Disease: Spermatogeni c failure 22 (SPGF22) [MIM:617706]
51293 Q8N635 (MEIOB) K T 75 rs1657125 Benign
51294 Q8N635 (MEIOB) I T 261 rs9806945 Benign
51295 Q8N653 (LZTR1) W R 105 - Disease: Glioma (GLM) [MIM:137800]
51296 Q8N653 (LZTR1) Y C 119 - Disease: Noonan syndrome 10 (NS10) [MIM:616564]
51297 Q8N653 (LZTR1) S L 122 rs587777177 Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51298 Q8N653 (LZTR1) R Q 170 rs781431741 Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51299 Q8N653 (LZTR1) R W 170 rs757502214 Disease: Noonan syndrome 2 (NS2) [MIM:605275]
51300 Q8N653 (LZTR1) L R 187 - Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51301 Q8N653 (LZTR1) R G 198 - Disease: Glioma (GLM) [MIM:137800]
51302 Q8N653 (LZTR1) M R 202 - Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51303 Q8N653 (LZTR1) S N 247 rs797045166 Disease: Noonan syndrome 10 (NS10) [MIM:616564]
51304 Q8N653 (LZTR1) G R 248 rs869320686 Disease: Noonan syndrome 10 (NS10) [MIM:616564]
51305 Q8N653 (LZTR1) R Q 283 rs1223430276 Disease: Noonan syndrome 10 (NS10) [MIM:616564]
51306 Q8N653 (LZTR1) R C 284 rs797045165 Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51307 Q8N653 (LZTR1) H Y 287 - Disease: Noonan syndrome 10 (NS10) [MIM:616564]
51308 Q8N653 (LZTR1) T I 288 - Disease: Glioma (GLM) [MIM:137800]
51309 Q8N653 (LZTR1) G R 404 rs1470449160 Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51310 Q8N653 (LZTR1) F L 447 rs201016956 Benign
51311 Q8N653 (LZTR1) V G 456 - Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51312 Q8N653 (LZTR1) R Q 466 rs587777180 Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51313 Q8N653 (LZTR1) P L 520 - Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51314 Q8N653 (LZTR1) I V 647 rs148916790 Benign
51315 Q8N653 (LZTR1) R C 688 rs587777178 Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51316 Q8N653 (LZTR1) R Q 697 rs370638947 Disease: Noonan syndrome 2 (NS2) [MIM:605275]
51317 Q8N653 (LZTR1) P H 701 rs1327579827 Disease: Noonan syndrome 2 (NS2) [MIM:605275]
51318 Q8N653 (LZTR1) R W 810 rs776893978 Disease: Glioma (GLM) [MIM:137800]
51319 Q8N653 (LZTR1) L P 812 rs773059569 Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51320 Q8N653 (LZTR1) S I 813 - Disease: Schwannomato sis 2 (SWNTS2) [MIM:615670]
51321 Q8N660 (NBPF15) P Q 615 rs6695216 Benign
51322 Q8N661 (TMEM86B) A T 176 rs35608872 Benign
51323 Q8N661 (TMEM86B) H R 199 rs4644955 Benign
51324 Q8N687 (DEFB125) H Y 62 rs41276376 Benign
51325 Q8N693 (ESX1) T P 314 rs9697856 Benign
51326 Q8N695 (SLC5A8) V I 193 rs1709189 Benign
51327 Q8N695 (SLC5A8) F V 251 rs11834933 Benign
51328 Q8N697 (SLC15A4) V A 239 rs33990080 Benign
51329 Q8N699 (MYCT1) G S 119 rs17710008 Benign
51330 Q8N699 (MYCT1) R G 127 rs17852097 Benign
51331 Q8N6C5 (IGSF1) N H 381 rs6637826 Benign
51332 Q8N6C5 (IGSF1) S N 765 - Disease: Hypothyroidi sm, central, and testicular enlargement (CHTE) [MIM:300888]
51333 Q8N6C5 (IGSF1) E G 774 - Benign
51334 Q8N6C5 (IGSF1) S F 858 rs397514622 Disease: Hypothyroidi sm, central, and testicular enlargement (CHTE) [MIM:300888]
51335 Q8N6C5 (IGSF1) C R 942 - Disease: Hypothyroidi sm, central, and testicular enlargement (CHTE) [MIM:300888]
51336 Q8N6C7 (MIR7-3HG) R S 73 rs11878617 Benign
51337 Q8N6C7 (MIR7-3HG) H Q 91 rs3760955 Benign
51338 Q8N6C8 (LILRA3) P S 3 rs11574606 Benign
51339 Q8N6C8 (LILRA3) L R 107 rs6509862 Benign
51340 Q8N6C8 (LILRA3) Y H 301 rs4473306 Benign
51341 Q8N6D5 (ANKRD29) G E 112 rs17855552 Benign
51342 Q8N6F1 (CLDN19) L F 13 rs12065961 Benign
51343 Q8N6F1 (CLDN19) G D 20 rs118203979 Disease: Hypomagnesem ia 5, renal, with or without ocular involvement (HOMG5) [MIM:248190]
51344 Q8N6F1 (CLDN19) Q E 57 rs118203980 Disease: Hypomagnesem ia 5, renal, with or without ocular involvement (HOMG5) [MIM:248190]
51345 Q8N6F1 (CLDN19) L P 90 rs118203981 Disease: Hypomagnesem ia 5, renal, with or without ocular involvement (HOMG5) [MIM:248190]
51346 Q8N6F8 (METTL27) Q R 107 rs13241921 Benign
51347 Q8N6F8 (METTL27) S W 171 rs13232463 Benign
51348 Q8N6G2 (TEX26) K N 231 rs9533168 Benign
51349 Q8N6G5 (CSGALNACT) E K 215 rs11238456 Benign
51350 Q8N6G5 (CSGALNACT) P S 479 rs2435381 Benign
51351 Q8N6G6 (ADAMTSL1) S N 242 rs776755 Benign
51352 Q8N6H7 (ARFGAP2) P R 143 rs11542793 Benign
51353 Q8N6H7 (ARFGAP2) R H 339 rs34662994 Benign
51354 Q8N6H7 (ARFGAP2) R W 406 rs35950498 Benign
51355 Q8N6H7 (ARFGAP2) S N 411 rs3740691 Benign
51356 Q8N6I1 (EID2) A T 6 rs7252027 Benign
51357 Q8N6I1 (EID2) E A 60 rs3746086 Benign
51358 Q8N6K7 (SAMD3) E K 94 rs17852709 Benign
51359 Q8N6K7 (SAMD3) D N 181 rs150968705 Benign
51360 Q8N6L0 (KASH5) L P 116 rs8102582 Benign
51361 Q8N6L0 (KASH5) R Q 129 rs10405154 Benign
51362 Q8N6L1 (KRTCAP2) G V 4 rs17854920 Benign
51363 Q8N6M0 (OTUD6B) R Q 283 rs3210518 Benign
51364 Q8N6M3 (FITM2) G R 232 - Disease: Siddiqi syndrome (SIDDIS) [MIM:618635]
51365 Q8N6M6 (AOPEP) V A 179 rs16911679 Benign
51366 Q8N6M6 (AOPEP) V I 179 rs16911679 Benign
51367 Q8N6M6 (AOPEP) R Q 255 rs16911681 Benign
51368 Q8N6M6 (AOPEP) R C 386 rs34557833 Benign
51369 Q8N6M8 (IQCF1) Q K 76 rs17852683 Benign
51370 Q8N6M8 (IQCF1) R Q 114 rs11927897 Benign
51371 Q8N6M9 (ZFAND2A) H L 53 rs17855544 Benign
51372 Q8N6N2 (TTC9B) L P 223 rs11553464 Benign
51373 Q8N6N6 (NATD1) V I 42 rs12449311 Benign
51374 Q8N6P7 (IL22RA1) S P 130 rs34900099 Benign
51375 Q8N6P7 (IL22RA1) V I 205 rs16829204 Benign
51376 Q8N6P7 (IL22RA1) A S 209 rs34379702 Benign
51377 Q8N6P7 (IL22RA1) L P 222 rs34782294 Benign
51378 Q8N6P7 (IL22RA1) M V 407 rs35401673 Benign
51379 Q8N6P7 (IL22RA1) R G 518 rs3795299 Benign
51380 Q8N6Q3 (CD177) A P 3 rs45441892 Benign
51381 Q8N6Q3 (CD177) H L 31 rs45553433 Benign
51382 Q8N6Q3 (CD177) L F 119 - Benign
51383 Q8N6Q3 (CD177) L I 251 rs10425835 Benign
51384 Q8N6Q3 (CD177) G A 261 - Benign
51385 Q8N6Q3 (CD177) R Q 323 - Benign
51386 Q8N6Q3 (CD177) A T 348 rs17856829 Benign
51387 Q8N6Q3 (CD177) F S 379 - Benign
51388 Q8N6Q3 (CD177) G R 431 rs78718189 Benign
51389 Q8N6Q8 (METTL25) Q K 249 rs4296098 Benign
51390 Q8N6R0 (EEF1AKNMT) Y C 16 rs774565178 Benign
51391 Q8N6R0 (EEF1AKNMT) M V 105 rs2232816 Benign
51392 Q8N6R0 (EEF1AKNMT) M I 359 rs2232819 Benign
51393 Q8N6R0 (EEF1AKNMT) R Q 544 rs145666727 Benign
51394 Q8N6S4 (ANKRD13C) T S 413 rs17852616 Benign
51395 Q8N6T3 (ARFGAP1) V M 184 rs2273499 Benign
51396 Q8N6T7 (SIRT6) S N 46 rs352493 Benign
51397 Q8N6W0 (CELF5) F L 65 rs17854481 Benign
51398 Q8N6Y0 (USHBP1) M V 439 rs9676419 Benign
51399 Q8N6Y0 (USHBP1) V M 525 rs12459398 Benign
51400 Q8N6Y0 (USHBP1) A V 677 rs1043963 Benign
51401 Q8N6Y2 (LRRC17) T I 95 rs34613342 Benign
51402 Q8N6Y2 (LRRC17) K E 119 rs3800939 Benign
51403 Q8N6Y2 (LRRC17) G A 187 rs1057066 Benign
51404 Q8N715 (CCDC185) V A 195 rs6689850 Benign
51405 Q8N715 (CCDC185) G D 329 rs10907376 Benign
51406 Q8N715 (CCDC185) R W 331 rs6682552 Benign
51407 Q8N715 (CCDC185) R L 380 rs17852896 Benign
51408 Q8N720 (ZNF655) E D 52 rs17853754 Benign
51409 Q8N726 (CDKN2A) P S 17 rs3731190 Benign
51410 Q8N726 (CDKN2A) G R 106 rs4987127 Benign
51411 Q8N726 (CDKN2A) P L 113 rs34886500 Benign
51412 Q8N726 (CDKN2A) G D 116 rs35741010 Benign
51413 Q8N729 (NPW) D A 149 rs2286472 Benign
51414 Q8N743 (KIR3DL3) R H 52 rs113988102 Benign
51415 Q8N743 (KIR3DL3) N K 56 rs2075731 Benign
51416 Q8N743 (KIR3DL3) R W 77 rs202170060 Benign
51417 Q8N743 (KIR3DL3) R S 149 rs62132665 Benign
51418 Q8N743 (KIR3DL3) R H 152 rs199609975 Benign
51419 Q8N743 (KIR3DL3) V I 168 rs270790 Benign
51420 Q8N743 (KIR3DL3) G D 231 rs112412050 Benign
51421 Q8N743 (KIR3DL3) N T 290 rs2302422 Benign
51422 Q8N743 (KIR3DL3) H N 321 rs602444 Benign
51423 Q8N743 (KIR3DL3) H Y 321 rs602444 Benign
51424 Q8N743 (KIR3DL3) V A 324 rs662386 Benign
51425 Q8N743 (KIR3DL3) V D 324 rs662386 Benign
51426 Q8N743 (KIR3DL3) A P 348 rs16985907 Benign
51427 Q8N743 (KIR3DL3) E D 373 rs28504993 Benign
51428 Q8N752 (CSNK1A1L) S G 5 rs56224973 Benign
51429 Q8N752 (CSNK1A1L) R W 21 rs56158728 Benign
51430 Q8N752 (CSNK1A1L) D E 42 rs9576175 Benign
51431 Q8N752 (CSNK1A1L) R S 170 rs17773251 Benign
51432 Q8N752 (CSNK1A1L) E K 177 rs17054882 Benign
51433 Q8N752 (CSNK1A1L) P L 220 rs56252856 Benign
51434 Q8N752 (CSNK1A1L) K N 230 rs56252523 Benign
51435 Q8N752 (CSNK1A1L) A T 257 rs55895045 Benign
51436 Q8N766 (EMC1) T M 82 rs869320625 Disease: Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875]
51437 Q8N766 (EMC1) L S 295 rs3850531 Benign
51438 Q8N766 (EMC1) S T 345 rs709683 Benign
51439 Q8N766 (EMC1) S N 347 rs709682 Benign
51440 Q8N766 (EMC1) G R 868 rs869320626 Disease: Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875]
51441 Q8N769 (C14orf178) H Y 26 rs8015313 Benign
51442 Q8N7B1 (HORMAD2) A T 2 rs34150968 Benign
51443 Q8N7B1 (HORMAD2) V L 20 rs34305723 Benign
51444 Q8N7B9 (EFCAB3) G R 341 rs12602985 Benign
51445 Q8N7B9 (EFCAB3) M I 364 rs1056642 Benign
51446 Q8N7B9 (EFCAB3) S A 370 rs1056643 Benign
51447 Q8N7C0 (LRRC52) D E 209 rs17407838 Benign
51448 Q8N7C7 (RNF148) F L 221 rs7790381 Benign
51449 Q8N7E2 (CBLL2) D E 166 rs5951426 Benign
51450 Q8N7E2 (CBLL2) S F 287 rs12860105 Benign
51451 Q8N7J2 (AMER2) I M 659 rs2282406 Benign
51452 Q8N7L0 (FAM216B) R C 134 rs35889214 Benign
51453 Q8N7M0 (TCTEX1D1) E D 49 rs1060575 Benign
51454 Q8N7M0 (TCTEX1D1) L I 143 rs2133173 Benign
51455 Q8N7M2 (ZNF283) T I 314 rs2195980 Benign
51456 Q8N7M2 (ZNF283) R H 629 rs1061768 Benign
51457 Q8N7M2 (ZNF283) C R 638 rs2356437 Benign
51458 Q8N7M2 (ZNF283) C Y 638 rs1061769 Benign
51459 Q8N7M2 (ZNF283) R I 646 rs10417624 Benign
51460 Q8N7Q3 (ZNF676) G E 27 rs8104929 Benign
51461 Q8N7Q3 (ZNF676) E K 96 rs12986319 Benign
51462 Q8N7Q3 (ZNF676) S W 292 rs11671538 Benign
51463 Q8N7R1 (POM121L12) P T 21 rs10229800 Benign
51464 Q8N7R1 (POM121L12) Q E 64 rs11238247 Benign
51465 Q8N7R1 (POM121L12) G E 188 rs1689291 Benign
51466 Q8N7S2 (DNAJC5G) V G 4 rs17005979 Benign
51467 Q8N7S2 (DNAJC5G) H R 51 rs13414011 Benign
51468 Q8N7U6 (EFHB) G V 99 rs17795400 Benign
51469 Q8N7U6 (EFHB) P S 269 rs13078867 Benign
51470 Q8N7U6 (EFHB) V I 331 rs2931403 Benign
51471 Q8N7U6 (EFHB) T I 382 rs2929366 Benign
51472 Q8N7U6 (EFHB) Q P 663 rs9868950 Benign
51473 Q8N7U6 (EFHB) R W 826 rs11917204 Benign
51474 Q8N7W2 (BEND7) N S 341 rs12247033 Benign
51475 Q8N7X0 (ADGB) I T 310 rs9497606 Benign
51476 Q8N7X0 (ADGB) T A 1637 rs1052445 Benign
51477 Q8N7X2 (STPG3) S G 126 rs28657439 Benign
51478 Q8N7Z5 (ANKRD31) D N 702 rs1422698 Benign
51479 Q8N7Z5 (ANKRD31) R G 758 rs6893216 Benign
51480 Q8N7Z5 (ANKRD31) D E 1609 rs961098 Benign
51481 Q8N7Z5 (ANKRD31) R K 1777 rs4489037 Benign
51482 Q8N801 (STPG4) L M 17 rs815804 Benign
51483 Q8N801 (STPG4) Q R 31 rs17036300 Benign
51484 Q8N807 (PDILT) A T 26 rs9926580 Benign
51485 Q8N807 (PDILT) D N 446 rs11648131 Benign
51486 Q8N807 (PDILT) V I 447 rs11865916 Benign
51487 Q8N807 (PDILT) L R 475 rs4500734 Benign
51488 Q8N807 (PDILT) R K 527 rs9652589 Benign
51489 Q8N807 (PDILT) G E 529 rs9652588 Benign
51490 Q8N815 (CNTD1) T P 145 rs12947820 Benign
51491 Q8N816 (TMEM99) I M 4 rs17474506 Benign
51492 Q8N816 (TMEM99) Y H 79 rs10558 Benign
51493 Q8N816 (TMEM99) L R 95 rs1044806 Benign
51494 Q8N823 (ZNF611) N I 234 rs3884051 Benign
51495 Q8N823 (ZNF611) P I 252 rs34846371 Benign
51496 Q8N823 (ZNF611) P L 252 rs4085566 Benign
51497 Q8N823 (ZNF611) P T 252 rs4085565 Benign
51498 Q8N823 (ZNF611) E G 340 rs4087790 Benign
51499 Q8N831 (TSPYL6) A V 60 rs6743719 Benign
51500 Q8N831 (TSPYL6) G S 109 rs843704 Benign
51501 Q8N831 (TSPYL6) P L 116 rs13424808 Benign
51502 Q8N831 (TSPYL6) R C 246 rs17189743 Benign
51503 Q8N841 (TTLL6) E D 664 rs2032844 Benign
51504 Q8N865 (C7orf31) E K 13 rs11980216 Benign
51505 Q8N865 (C7orf31) Y C 82 rs2717858 Benign
51506 Q8N865 (C7orf31) R C 86 rs3213642 Benign
51507 Q8N865 (C7orf31) P Q 143 rs17855102 Benign
51508 Q8N865 (C7orf31) A T 158 rs12535348 Benign
51509 Q8N865 (C7orf31) T S 187 rs2523072 Benign
51510 Q8N865 (C7orf31) P Q 238 rs11984293 Benign
51511 Q8N865 (C7orf31) A T 249 rs17150982 Benign
51512 Q8N865 (C7orf31) H R 300 rs2285738 Benign
51513 Q8N865 (C7orf31) N D 518 rs17857512 Benign
51514 Q8N878 (FRMD1) R C 274 rs902393 Benign
51515 Q8N878 (FRMD1) Q E 456 rs1548349 Benign
51516 Q8N883 (ZNF614) T I 68 rs9636139 Benign
51517 Q8N883 (ZNF614) G E 160 rs45596739 Benign
51518 Q8N883 (ZNF614) H R 223 rs35098634 Benign
51519 Q8N883 (ZNF614) V I 415 rs8104890 Benign
51520 Q8N884 (CGAS) T N 35 rs9352000 Benign
51521 Q8N884 (CGAS) P H 261 rs610913 Benign
51522 Q8N895 (ZNF366) A G 739 rs13188519 Benign
51523 Q8N8A6 (DDX51) R Q 41 rs17857214 Benign
51524 Q8N8A6 (DDX51) E V 134 rs17855642 Benign
51525 Q8N8A6 (DDX51) Q K 175 rs17855639 Benign
51526 Q8N8A6 (DDX51) P L 249 rs17857213 Benign
51527 Q8N8A6 (DDX51) Q R 295 rs1133690 Benign
51528 Q8N8A6 (DDX51) A V 322 rs60927391 Benign
51529 Q8N8A6 (DDX51) Q K 406 rs17853968 Benign
51530 Q8N8A6 (DDX51) Q K 652 rs17853969 Benign
51531 Q8N8A8 (FAM169B) S P 115 rs12101356 Benign
51532 Q8N8B7 (TCEANC) S L 163 rs2361159 Benign
51533 Q8N8D7 (NKAIN3) V I 140 rs4739003 Benign
51534 Q8N8E2 (ZNF513) C R 339 rs267607182 Disease: Retinitis pigmentosa 58 (RP58) [MIM:613617]
51535 Q8N8E3 (CEP112) K E 551 rs17704679 Benign
51536 Q8N8F6 (YIPF7) A T 54 rs2348353 Benign
51537 Q8N8G6 (C15orf54) T M 59 rs11853050 Benign
51538 Q8N8G6 (C15orf54) E K 77 rs16968547 Benign
51539 Q8N8I6 (LINC00482) V L 50 rs2056439 Benign
51540 Q8N8I6 (LINC00482) R C 119 rs2048058 Benign
51541 Q8N8J6 (ZNF615) T M 129 rs10500311 Benign
51542 Q8N8J6 (ZNF615) T I 360 rs1978717 Benign
51543 Q8N8J6 (ZNF615) R K 727 rs16983353 Benign
51544 Q8N8J7 (FAM241A) P Q 46 rs17852081 Benign
51545 Q8N8M0 (NAT16) F S 63 rs34985488 Benign
51546 Q8N8Q3 (ENDOV) V I 29 rs35549084 Benign
51547 Q8N8Q3 (ENDOV) R Q 112 rs34933300 Benign
51548 Q8N8Q3 (ENDOV) K R 114 rs41298706 Benign
51549 Q8N8Q3 (ENDOV) H Y 141 rs41299812 Benign
51550 Q8N8Q3 (ENDOV) D N 201 rs35929621 Benign
51551 Q8N8R7 (ARL14EP) T P 180 rs7940297 Benign
51552 Q8N8U3 (RTL3) P S 117 rs4077512 Benign
51553 Q8N8U9 (BMPER) P L 370 rs387906993 Disease: Diaphanospon dylodysostos is (DSD) [MIM:608022]
51554 Q8N8U9 (BMPER) R W 555 rs10249320 Benign
51555 Q8N8V2 (GBP7) T I 14 rs676913 Benign
51556 Q8N8V2 (GBP7) G R 618 rs1886297 Benign
51557 Q8N8V8 (TMEM105) R W 122 rs9916085 Benign
51558 Q8N8W4 (PNPLA1) A V 59 - Disease: Ichthyosis, congenital, autosomal recessive 10 (ARCI10) [MIM:615024]
51559 Q8N8W4 (PNPLA1) P H 423 rs12199580 Benign
51560 Q8N8W4 (PNPLA1) T M 490 rs12197079 Benign
51561 Q8N8W4 (PNPLA1) S P 522 rs4713956 Benign
51562 Q8N8Y2 (ATP6V0D2) G R 272 rs10094744 Benign
51563 Q8N8Y2 (ATP6V0D2) E K 295 rs4263741 Benign
51564 Q8N910 (C15orf56) P S 119 rs55863440 Benign
51565 Q8N910 (C15orf56) P R 151 rs55974545 Benign
51566 Q8N910 (C15orf56) I T 160 rs55799438 Benign
51567 Q8N944 (AMER3) S P 340 rs1905235 Benign
51568 Q8N945 (PRELID2) N S 99 rs9324996 Benign
51569 Q8N957 (ANKFN1) V I 445 rs10852985 Benign
51570 Q8N960 (CEP120) A P 199 rs367600930 Disease: Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) [MIM:616300]
51571 Q8N960 (CEP120) L V 602 rs6595440 Benign
51572 Q8N960 (CEP120) Q H 879 rs1047437 Benign
51573 Q8N960 (CEP120) V I 936 rs2303721 Benign
51574 Q8N960 (CEP120) R H 947 rs2303720 Benign
51575 Q8N961 (ABTB2) H Q 250 rs1925368 Benign
51576 Q8N961 (ABTB2) T A 918 rs2473928 Benign
51577 Q8N967 (LRTM2) D N 161 rs41276696 Benign
51578 Q8N999 (C12orf29) P L 23 rs11541954 Benign
51579 Q8N999 (C12orf29) V L 238 rs9262 Benign
51580 Q8N9B4 (ANKRD42) N D 198 rs17515016 Benign
51581 Q8N9B5 (JMY) M L 364 rs13182512 Benign
51582 Q8N9B5 (JMY) A V 592 rs12109475 Benign
51583 Q8N9B5 (JMY) H R 720 rs16876657 Benign
51584 Q8N9C0 (IGSF22) R W 7 rs117464001 Benign
51585 Q8N9C0 (IGSF22) A P 94 rs10832975 Benign
51586 Q8N9C0 (IGSF22) L R 130 rs3740710 Benign
51587 Q8N9C0 (IGSF22) V I 414 rs10766494 Benign
51588 Q8N9C0 (IGSF22) R Q 472 rs4424652 Benign
51589 Q8N9C0 (IGSF22) S I 503 rs3887899 Benign
51590 Q8N9C0 (IGSF22) M V 559 rs7125943 Benign
51591 Q8N9C0 (IGSF22) L F 677 rs11024769 Benign
51592 Q8N9E0 (FAM133A) E K 67 rs34123774 Benign
51593 Q8N9F8 (ZNF454) C Y 152 rs6867221 Benign
51594 Q8N9F8 (ZNF454) D A 166 rs12719860 Benign
51595 Q8N9H6 (C8orf31) L P 39 rs11136300 Benign
51596 Q8N9H8 (EXD3) R Q 20 rs13291830 Benign
51597 Q8N9H8 (EXD3) R Q 220 rs7389423 Benign
51598 Q8N9H9 (C1orf127) R Q 256 rs1281012 Benign
51599 Q8N9H9 (C1orf127) V D 366 rs1281016 Benign
51600 Q8N9H9 (C1orf127) A V 530 rs1281018 Benign
51601 Q8N9I0 (SYT2) D A 307 rs587777781 Disease: Myasthenic syndrome, congenital, 7, presynaptic (CMS7) [MIM:616040]
51602 Q8N9I0 (SYT2) P L 308 rs587777782 Disease: Myasthenic syndrome, congenital, 7, presynaptic (CMS7) [MIM:616040]
51603 Q8N9K5 (ZNF565) I T 228 rs4805162 Benign
51604 Q8N9L9 (ACOT4) R C 57 rs3742819 Benign
51605 Q8N9L9 (ACOT4) A D 187 rs35724886 Benign
51606 Q8N9M5 (TMEM102) A V 110 rs3809718 Benign
51607 Q8N9N2 (ASCC1) D N 34 rs11558719 Benign
51608 Q8N9N2 (ASCC1) N S 318 rs146370051 Benign
51609 Q8N9N8 (EIF1AD) D N 23 rs17849919 Benign
51610 Q8N9N8 (EIF1AD) S N 159 rs2276017 Benign
51611 Q8N9P6 (C9orf163) L P 5 rs34376913 Benign
51612 Q8N9R6 (CDRT4) V I 73 rs3744332 Benign
51613 Q8N9R6 (CDRT4) H Q 122 rs2954759 Benign
51614 Q8N9R8 (SCAI) A T 37 rs589292 Benign
51615 Q8N9S9 (SNX31) D H 73 rs2187016 Benign
51616 Q8N9S9 (SNX31) Q R 309 rs2248609 Benign
51617 Q8N9S9 (SNX31) D G 428 rs2022923 Benign
51618 Q8N9T8 (KRI1) G R 138 rs12984043 Benign
51619 Q8N9T8 (KRI1) E A 179 rs11545166 Benign
51620 Q8N9T8 (KRI1) E K 266 rs3745249 Benign
51621 Q8N9T8 (KRI1) S L 309 rs34743532 Benign
51622 Q8N9T8 (KRI1) R W 336 rs33999611 Benign
51623 Q8N9T8 (KRI1) E Q 349 rs3826709 Benign
51624 Q8N9T8 (KRI1) L P 445 rs1982074 Benign
51625 Q8N9T8 (KRI1) S P 703 rs3087689 Benign
51626 Q8N9U0 (TC2N) K T 151 rs2402073 Benign
51627 Q8N9U0 (TC2N) S N 172 rs8020529 Benign
51628 Q8N9V2 (TRIML1) E K 132 rs13131525 Benign
51629 Q8N9V3 (WDSUB1) K T 215 rs16843852 Benign
51630 Q8N9V3 (WDSUB1) H D 223 rs17852677 Benign
51631 Q8N9V3 (WDSUB1) R S 320 rs7591849 Benign
51632 Q8N9V6 (ANKRD53) A G 105 rs35096506 Benign
51633 Q8N9V6 (ANKRD53) L I 153 rs17853403 Benign
51634 Q8N9V6 (ANKRD53) M T 243 rs36123544 Benign
51635 Q8N9V6 (ANKRD53) R L 349 rs11688921 Benign
51636 Q8N9V6 (ANKRD53) H L 431 rs3796100 Benign
51637 Q8N9V7 (TOPAZ1) C R 43 rs9833423 Benign
51638 Q8N9V7 (TOPAZ1) P Q 88 rs7645375 Benign
51639 Q8N9V7 (TOPAZ1) V I 196 rs9284879 Benign
51640 Q8N9V7 (TOPAZ1) Q R 483 rs17076541 Benign
51641 Q8N9V7 (TOPAZ1) P A 673 rs17646517 Benign
51642 Q8N9V7 (TOPAZ1) K E 796 rs17076545 Benign
51643 Q8N9V7 (TOPAZ1) Q R 1352 rs11921568 Benign
51644 Q8N9W4 (GOLGA6L2) R G 43 rs2344900 Benign
51645 Q8N9W4 (GOLGA6L2) N H 54 rs3866720 Benign
51646 Q8N9W4 (GOLGA6L2) E G 64 rs2344899 Benign
51647 Q8N9W4 (GOLGA6L2) W R 191 rs4778531 Benign
51648 Q8N9W4 (GOLGA6L2) R P 235 rs12594944 Benign
51649 Q8N9W5 (DNAAF3) L P 61 rs387907151 Disease: Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763]
51650 Q8N9W5 (DNAAF3) A T 278 rs200775946 Benign
51651 Q8N9W5 (DNAAF3) E G 292 rs2365725 Benign
51652 Q8N9W5 (DNAAF3) G W 331 rs7508641 Benign
51653 Q8N9W5 (DNAAF3) N D 365 rs890872 Benign
51654 Q8N9Y4 (FAM181A) A T 28 rs10141024 Benign
51655 Q8N9Y4 (FAM181A) L M 162 rs34220325 Benign
51656 Q8N9Z0 (ZNF610) V M 104 rs3815905 Benign
51657 Q8N9Z0 (ZNF610) A S 131 rs2241586 Benign
51658 Q8N9Z0 (ZNF610) R P 216 rs321937 Benign
51659 Q8N9Z0 (ZNF610) R I 298 rs7343101 Benign
51660 Q8N9Z9 (LMNTD1) A T 264 rs35450203 Benign
51661 Q8N9Z9 (LMNTD1) E G 267 rs34326830 Benign
51662 Q8N9Z9 (LMNTD1) T A 289 rs34732786 Benign
51663 Q8N9Z9 (LMNTD1) A T 290 rs34074522 Benign
51664 Q8N9Z9 (LMNTD1) T S 366 rs1479500 Benign
51665 Q8NA03 (FSIP1) N D 64 rs1166719 Benign
51666 Q8NA03 (FSIP1) R H 354 rs937961 Benign
51667 Q8NA03 (FSIP1) E G 374 rs16969673 Benign
51668 Q8NA03 (FSIP1) C R 402 rs10152640 Benign
51669 Q8NA03 (FSIP1) L F 411 rs12908846 Benign
51670 Q8NA03 (FSIP1) G A 528 rs16969386 Benign
51671 Q8NA19 (L3MBTL4) G S 489 rs12958879 Benign
51672 Q8NA19 (L3MBTL4) G D 618 rs3737353 Benign
51673 Q8NA23 (WDR31) P S 113 rs10817479 Benign
51674 Q8NA29 (MFSD2A) T M 172 rs1057517688 Disease: Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]
51675 Q8NA29 (MFSD2A) S L 179 rs1057517689 Disease: Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]
51676 Q8NA29 (MFSD2A) S L 352 rs1057519087 Disease: Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]
51677 Q8NA47 (CCDC63) L S 212 rs12371434 Benign
51678 Q8NA54 (IQUB) V M 126 rs10255061 Benign
51679 Q8NA54 (IQUB) D N 691 rs17146009 Benign
51680 Q8NA54 (IQUB) R P 735 rs1525626 Benign
51681 Q8NA56 (TTC29) L P 94 rs35123039 Benign
51682 Q8NA56 (TTC29) H Y 140 rs17610219 Benign
51683 Q8NA56 (TTC29) A T 276 rs10013280 Benign
51684 Q8NA57 (C12orf50) Q R 306 rs10777084 Benign
51685 Q8NA57 (C12orf50) R H 322 rs11104703 Benign
51686 Q8NA61 (CBY2) K E 329 rs7317245 Benign
51687 Q8NA66 (CNBD1) D N 64 rs10504829 Benign
51688 Q8NA66 (CNBD1) Q K 69 rs16894901 Benign
51689 Q8NA66 (CNBD1) M V 257 rs60556175 Benign
51690 Q8NA69 (TEX45) D G 256 rs484870 Benign
51691 Q8NA69 (TEX45) Y N 396 rs3826736 Benign
51692 Q8NA69 (TEX45) Y N 434 rs475923 Benign
51693 Q8NA69 (TEX45) P S 497 rs1133378 Benign
51694 Q8NA69 (TEX45) L P 500 rs608144 Benign
51695 Q8NA72 (POC5) H R 36 rs2307111 Benign
51696 Q8NA72 (POC5) I T 85 rs17672542 Benign
51697 Q8NA72 (POC5) A T 446 rs34678567 Benign
51698 Q8NA82 (MARCHF10) G E 241 rs17853369 Benign
51699 Q8NA82 (MARCHF10) F S 319 rs9891498 Benign
51700 Q8NA82 (MARCHF10) E K 742 rs16946335 Benign
51701 Q8NA92 (THAP8) R H 70 rs3810449 Benign
51702 Q8NA92 (THAP8) K R 112 rs3810450 Benign
51703 Q8NA92 (THAP8) P S 157 rs34250145 Benign
51704 Q8NA92 (THAP8) R Q 185 rs10421966 Benign
51705 Q8NA92 (THAP8) R W 189 rs10420353 Benign
51706 Q8NAA4 (ATG16L2) R W 220 rs11235604 Benign
51707 Q8NAA6 (LINC02694) L V 3 rs7165988 Benign
51708 Q8NAA6 (LINC02694) A V 39 rs11857596 Benign
51709 Q8NAB2 (KBTBD3) M V 193 rs35762821 Benign
51710 Q8NAC3 (IL17RC) S L 182 rs708567 Benign
51711 Q8NAE3 (LINC01555) F V 96 rs4551616 Benign
51712 Q8NAF0 (ZNF579) E D 353 rs10403008 Benign
51713 Q8NAG6 (ANKLE1) A T 31 rs8100241 Benign
51714 Q8NAG6 (ANKLE1) A V 71 rs1864116 Benign
51715 Q8NAG6 (ANKLE1) L Q 94 rs8108174 Benign
51716 Q8NAG6 (ANKLE1) P S 160 rs59119993 Benign
51717 Q8NAG6 (ANKLE1) L W 184 rs2363956 Benign
51718 Q8NAG6 (ANKLE1) T P 311 rs891017 Benign
51719 Q8NAG6 (ANKLE1) Q R 435 rs11086065 Benign
51720 Q8NAG6 (ANKLE1) V M 447 rs34112069 Benign
51721 Q8NAM6 (ZSCAN4) E K 387 rs11668570 Benign
51722 Q8NAP3 (ZBTB38) S A 319 rs16851435 Benign
51723 Q8NAP3 (ZBTB38) T M 615 rs17787670 Benign
51724 Q8NAP3 (ZBTB38) A T 809 rs3732867 Benign
51725 Q8NAT1 (POMGNT2) R H 158 rs387907300 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A8 (MDDGA8) [MIM:614830]
51726 Q8NAT1 (POMGNT2) M T 165 - Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C8 (MDDGC8) [MIM:618135]
51727 Q8NAT1 (POMGNT2) P L 253 rs374042455 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C8 (MDDGC8) [MIM:618135]
51728 Q8NAT2 (TDRD5) M T 104 rs12066948 Benign
51729 Q8NAT2 (TDRD5) F V 239 rs12069976 Benign
51730 Q8NAT2 (TDRD5) K E 358 rs6704505 Benign
51731 Q8NAT2 (TDRD5) E K 722 rs35448215 Benign
51732 Q8NAX2 (KDF1) Q R 100 rs17360994 Benign
51733 Q8NAX2 (KDF1) R W 107 rs3010109 Benign
51734 Q8NAX2 (KDF1) K R 189 rs34291506 Benign
51735 Q8NB12 (SMYD1) Q P 164 rs1542087 Benign
51736 Q8NB16 (MLKL) S T 52 rs34251827 Benign
51737 Q8NB16 (MLKL) D E 100 rs33987771 Benign
51738 Q8NB16 (MLKL) S P 132 rs35589326 Benign
51739 Q8NB16 (MLKL) R Q 146 rs34515646 Benign
51740 Q8NB16 (MLKL) M L 169 rs55929310 Benign
51741 Q8NB16 (MLKL) T M 364 rs34389205 Benign
51742 Q8NB16 (MLKL) R H 421 rs55987292 Benign
51743 Q8NB25 (FAM184A) Q H 174 rs34681930 Benign
51744 Q8NB25 (FAM184A) V G 177 rs34977570 Benign
51745 Q8NB25 (FAM184A) D N 599 rs17827619 Benign
51746 Q8NB49 (ATP11C) C W 114 rs2491014 Benign
51747 Q8NB49 (ATP11C) T N 418 rs1556323334 Disease: Hemolytic anemia, congenital, X-linked (HAXL) [MIM:301015]
51748 Q8NB49 (ATP11C) Y C 522 rs17281983 Benign
51749 Q8NB49 (ATP11C) V M 972 rs55724992 Benign
51750 Q8NB50 (ZFP62) M I 34 rs705441 Benign
51751 Q8NB50 (ZFP62) R K 698 rs168726 Benign
51752 Q8NB59 (SYT14) G E 138 rs759296305 Benign
51753 Q8NB59 (SYT14) G D 439 rs387907033 Disease: Spinocerebel lar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229]
51754 Q8NB66 (UNC13C) D E 304 rs149448818 Benign
51755 Q8NB66 (UNC13C) G S 609 rs12437941 Benign
51756 Q8NB66 (UNC13C) S L 942 rs17731958 Benign
51757 Q8NB66 (UNC13C) V A 2196 rs146433220 Benign
51758 Q8NB90 (SPATA5) C S 27 rs35430470 Benign
51759 Q8NB90 (SPATA5) R Q 84 rs745858366 Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51760 Q8NB90 (SPATA5) S I 90 rs796051893 Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51761 Q8NB90 (SPATA5) A T 100 rs796051895 Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51762 Q8NB90 (SPATA5) S L 448 rs766034355 Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51763 Q8NB90 (SPATA5) V L 488 - Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51764 Q8NB90 (SPATA5) R Q 529 rs567175477 Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51765 Q8NB90 (SPATA5) W C 626 rs796052222 Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51766 Q8NB90 (SPATA5) D G 628 rs768528444 Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51767 Q8NB90 (SPATA5) S Y 673 rs35133326 Benign
51768 Q8NB90 (SPATA5) R Q 784 rs796051894 Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51769 Q8NB90 (SPATA5) A V 844 rs796051892 Disease: Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
51770 Q8NB91 (FANCB) I T 330 rs200161949 Benign
51771 Q8NBB2 (ST20-AS1) V A 62 rs2733102 Benign
51772 Q8NBF1 (GLIS1) T A 110 rs4307514 Benign
51773 Q8NBF1 (GLIS1) F L 157 rs34961060 Benign
51774 Q8NBF1 (GLIS1) A G 187 rs35227000 Benign
51775 Q8NBF2 (NHLRC2) V I 314 rs7913176 Benign
51776 Q8NBF6 (AVL9) C S 257 rs2290213 Benign
51777 Q8NBI3 (DRAXIN) L F 37 rs11121804 Benign
51778 Q8NBI5 (SLC43A3) P L 53 rs34799622 Benign
51779 Q8NBJ4 (GOLM1) H R 217 rs2297002 Benign
51780 Q8NBJ5 (COLGALT1) L R 151 rs1478523191 Disease: Brain small vessel disease 3 (BSVD3) [MIM:618360]
51781 Q8NBJ5 (COLGALT1) A P 154 rs181844791 Disease: Brain small vessel disease 3 (BSVD3) [MIM:618360]
51782 Q8NBJ5 (COLGALT1) G R 377 - Disease: Brain small vessel disease 3 (BSVD3) [MIM:618360]
51783 Q8NBJ7 (SUMF2) D E 51 rs4245575 Benign
51784 Q8NBJ9 (SIDT2) T M 631 rs12285035 Benign
51785 Q8NBJ9 (SIDT2) V I 636 rs17120425 Benign
51786 Q8NBK3 (SUMF1) L F 20 rs200142963 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51787 Q8NBK3 (SUMF1) S N 63 rs2819590 Benign
51788 Q8NBK3 (SUMF1) S P 155 rs137852850 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51789 Q8NBK3 (SUMF1) A P 177 - Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51790 Q8NBK3 (SUMF1) W S 179 rs757323641 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51791 Q8NBK3 (SUMF1) C Y 218 rs137852854 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51792 Q8NBK3 (SUMF1) R W 224 rs759888604 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51793 Q8NBK3 (SUMF1) G R 247 rs1057517363 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51794 Q8NBK3 (SUMF1) N I 259 rs764215221 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51795 Q8NBK3 (SUMF1) G V 263 rs387906976 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51796 Q8NBK3 (SUMF1) P L 266 rs763243827 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51797 Q8NBK3 (SUMF1) A V 279 rs137852849 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51798 Q8NBK3 (SUMF1) C R 336 rs137852848 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51799 Q8NBK3 (SUMF1) R C 345 rs137852852 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51800 Q8NBK3 (SUMF1) A P 348 rs137852853 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51801 Q8NBK3 (SUMF1) R Q 349 rs137852847 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51802 Q8NBK3 (SUMF1) R W 349 rs137852846 Disease: Multiple sulfatase deficiency (MSD) [MIM:272200]
51803 Q8NBL1 (POGLUT1) K R 75 rs11556605 Benign
51804 Q8NBL1 (POGLUT1) G E 170 rs1454300079 Disease: Dowling- Degos disease 4 (DDD4) [MIM:615696]
51805 Q8NBL1 (POGLUT1) P T 229 rs17852785 Benign
51806 Q8NBL1 (POGLUT1) D E 233 rs550944082 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21) [MIM:617232]
51807 Q8NBL1 (POGLUT1) C Y 286 - Disease: Dowling- Degos disease 4 (DDD4) [MIM:615696]
51808 Q8NBL3 (TMEM178A) L V 107 rs17852679 Benign
51809 Q8NBM8 (PCYOX1L) A P 5 rs2291814 Benign
51810 Q8NBM8 (PCYOX1L) A T 316 rs35552800 Benign
51811 Q8NBM8 (PCYOX1L) E D 390 rs4705336 Benign
51812 Q8NBP5 (MFSD9) A S 129 rs7601509 Benign
51813 Q8NBP5 (MFSD9) I T 288 rs33993717 Benign
51814 Q8NBP5 (MFSD9) A T 376 rs34096572 Benign
51815 Q8NBP7 (PCSK9) R L 46 rs11591147 Benign
51816 Q8NBP7 (PCSK9) A V 53 rs11583680 Benign
51817 Q8NBP7 (PCSK9) E K 57 rs145886902 Benign
51818 Q8NBP7 (PCSK9) T I 77 rs756060557 Benign
51819 Q8NBP7 (PCSK9) R C 93 rs151193009 Benign
51820 Q8NBP7 (PCSK9) G R 106 - Benign
51821 Q8NBP7 (PCSK9) V A 114 rs775988212 Benign
51822 Q8NBP7 (PCSK9) S R 127 rs28942111 Disease: Hypercholest erolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
51823 Q8NBP7 (PCSK9) D G 129 rs1553135971 Disease: Hypercholest erolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
51824 Q8NBP7 (PCSK9) N K 157 rs143117125 Benign
51825 Q8NBP7 (PCSK9) P S 174 rs533273863 Benign
51826 Q8NBP7 (PCSK9) R H 215 rs794728683 Disease: Hypercholest erolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
51827 Q8NBP7 (PCSK9) F L 216 rs28942112 Disease: Hypercholest erolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
51828 Q8NBP7 (PCSK9) R S 218 rs970575319 Disease: Hypercholest erolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
51829 Q8NBP7 (PCSK9) Q E 219 rs778617372 Benign
51830 Q8NBP7 (PCSK9) R W 237 rs148195424 Benign
51831 Q8NBP7 (PCSK9) A D 239 - Benign
51832 Q8NBP7 (PCSK9) L F 253 rs72646508 Benign
51833 Q8NBP7 (PCSK9) R H 357 rs370507566 Disease: Hypercholest erolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
51834 Q8NBP7 (PCSK9) D H 374 rs137852912 Disease: Hypercholest erolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
51835 Q8NBP7 (PCSK9) D Y 374 rs137852912 Disease: Hypercholest erolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
51836 Q8NBP7 (PCSK9) H N 391 rs146471967 Benign
51837 Q8NBP7 (PCSK9) H Q 417 rs143275858 Benign
51838 Q8NBP7 (PCSK9) N S 425 rs28362261 Benign
51839 Q8NBP7 (PCSK9) A T 443 rs28362263 Benign
51840 Q8NBP7 (PCSK9) G D 452 - Benign
51841 Q8NBP7 (PCSK9) R W 469 rs141502002 Benign
51842 Q8NBP7 (PCSK9) V I 474 rs562556 Benign
51843 Q8NBP7 (PCSK9) E G 482 rs141995194 Benign
51844 Q8NBP7 (PCSK9) R W 496 rs374603772 Disease: Hypercholest erolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
51845 Q8NBP7 (PCSK9) F L 515 rs1356131564 Benign
51846 Q8NBP7 (PCSK9) A T 522 rs777300852 Benign
51847 Q8NBP7 (PCSK9) H R 553 rs28362270 Benign
51848 Q8NBP7 (PCSK9) Q E 554 rs149311926 Benign
51849 Q8NBP7 (PCSK9) P L 616 rs755750316 Benign
51850 Q8NBP7 (PCSK9) Q P 619 rs28362277 Benign
51851 Q8NBP7 (PCSK9) S R 668 rs762298323 Benign
51852 Q8NBP7 (PCSK9) G E 670 rs505151 Benign
51853 Q8NBQ7 (AQP11) G S 102 rs2276415 Benign
51854 Q8NBR9 (C11orf72) P T 22 rs12421329 Benign
51855 Q8NBS3 (SLC4A11) N T 72 rs778688114 Benign
51856 Q8NBS3 (SLC4A11) M V 91 rs200940928 Benign
51857 Q8NBS3 (SLC4A11) R H 125 rs1276051624 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51858 Q8NBS3 (SLC4A11) E K 143 rs1482631297 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51859 Q8NBS3 (SLC4A11) N S 150 rs34520315 Benign
51860 Q8NBS3 (SLC4A11) A T 160 rs752287261 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51861 Q8NBS3 (SLC4A11) E D 167 rs141836046 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51862 Q8NBS3 (SLC4A11) R W 209 rs566507872 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51863 Q8NBS3 (SLC4A11) S L 213 rs759667344 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51864 Q8NBS3 (SLC4A11) S P 213 rs121909395 Disease: Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
51865 Q8NBS3 (SLC4A11) R C 233 rs762942751 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51866 Q8NBS3 (SLC4A11) W S 240 rs746532062 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51867 Q8NBS3 (SLC4A11) A V 269 rs1298347142 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51868 Q8NBS3 (SLC4A11) R P 282 - Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51869 Q8NBS3 (SLC4A11) A V 327 rs760889152 Benign
51870 Q8NBS3 (SLC4A11) C R 386 - Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51871 Q8NBS3 (SLC4A11) G R 394 rs780171125 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51872 Q8NBS3 (SLC4A11) E K 399 rs267607065 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51873 Q8NBS3 (SLC4A11) T K 401 - Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51874 Q8NBS3 (SLC4A11) Q H 408 - Benign
51875 Q8NBS3 (SLC4A11) K N 409 - Benign
51876 Q8NBS3 (SLC4A11) G D 418 - Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51877 Q8NBS3 (SLC4A11) T I 434 - Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51878 Q8NBS3 (SLC4A11) G D 464 rs121909389 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51879 Q8NBS3 (SLC4A11) L R 473 - Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51880 Q8NBS3 (SLC4A11) M T 483 - Benign
51881 Q8NBS3 (SLC4A11) R K 488 rs121909393 Disease: Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
51882 Q8NBS3 (SLC4A11) S L 489 rs121909388 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51883 Q8NBS3 (SLC4A11) V I 507 rs532728316 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51884 Q8NBS3 (SLC4A11) Y C 526 rs150571742 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51885 Q8NBS3 (SLC4A11) T M 561 rs755379986 Benign
51886 Q8NBS3 (SLC4A11) S L 565 rs754745672 Benign
51887 Q8NBS3 (SLC4A11) V M 575 rs144734280 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51888 Q8NBS3 (SLC4A11) G D 583 rs139078082 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51889 Q8NBS3 (SLC4A11) T K 584 - Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51890 Q8NBS3 (SLC4A11) E A 675 rs749826950 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51891 Q8NBS3 (SLC4A11) T A 708 rs1180556979 Benign
51892 Q8NBS3 (SLC4A11) G E 709 rs267607064 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51893 Q8NBS3 (SLC4A11) G R 742 rs143965185 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51894 Q8NBS3 (SLC4A11) T M 754 rs267607066 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51895 Q8NBS3 (SLC4A11) R Q 755 rs121909387 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51896 Q8NBS3 (SLC4A11) R W 755 rs757553189 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51897 Q8NBS3 (SLC4A11) P L 773 rs1465111896 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51898 Q8NBS3 (SLC4A11) R H 804 rs766567944 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51899 Q8NBS3 (SLC4A11) V M 824 rs757244518 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51900 Q8NBS3 (SLC4A11) T M 833 rs1422526172 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51901 Q8NBS3 (SLC4A11) G S 834 rs144586846 Disease: Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
51902 Q8NBS3 (SLC4A11) L P 843 rs121909394 Disease: Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
51903 Q8NBS3 (SLC4A11) M I 848 rs34224785 Benign
51904 Q8NBS3 (SLC4A11) M V 856 rs121909396 Disease: Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
51905 Q8NBS3 (SLC4A11) R C 869 rs121909391 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51906 Q8NBS3 (SLC4A11) R H 869 rs121909392 Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51907 Q8NBS3 (SLC4A11) L P 873 - Disease: Corneal endothelial dystrophy (CHED) [MIM:217700]
51908 Q8NBT0 (POC1A) G S 79 rs35249554 Benign
51909 Q8NBT0 (POC1A) L P 171 rs397514488 Disease: Short stature, onychodyspla sia, facial dysmorphism, and hypotrichosi s (SOFT) [MIM:614813]
51910 Q8NBT0 (POC1A) Q H 348 rs35898691 Benign
51911 Q8NBT3 (TMEM145) L M 256 rs7254227 Benign
51912 Q8NBV4 (PLPP7) T M 174 rs2966332 Benign
51913 Q8NBV4 (PLPP7) L V 267 rs11244366 Benign
51914 Q8NBV8 (SYT8) H Q 17 rs57344881 Benign
51915 Q8NBV8 (SYT8) C R 120 rs564271 Benign
51916 Q8NBV8 (SYT8) F I 129 rs34141314 Benign
51917 Q8NBW4 (SLC38A9) S T 182 rs4865615 Benign
51918 Q8NBX0 (SCCPDH) G R 418 rs7779 Benign
51919 Q8NC01 (CLEC1A) G A 26 rs2306894 Benign
51920 Q8NC06 (ACBD4) P L 118 rs901754 Benign
51921 Q8NC06 (ACBD4) R G 242 rs16939879 Benign
51922 Q8NC24 (RELL2) S P 128 rs17855845 Benign
51923 Q8NC24 (RELL2) L I 133 rs14251 Benign
51924 Q8NC24 (RELL2) G R 196 rs17855844 Benign
51925 Q8NC24 (RELL2) Q E 283 rs11742646 Benign
51926 Q8NC26 (ZNF114) H N 99 rs35802964 Benign
51927 Q8NC26 (ZNF114) V A 207 rs16981956 Benign
51928 Q8NC42 (RNF149) S G 9 rs11123868 Benign
51929 Q8NC42 (RNF149) L F 344 rs17856945 Benign
51930 Q8NC42 (RNF149) D E 356 rs13151 Benign
51931 Q8NC44 (RETREG2) R H 374 rs3210652 Benign
51932 Q8NC44 (RETREG2) P Q 419 rs3731900 Benign
51933 Q8NC56 (LEMD2) L R 13 rs878852983 Disease: Cataract 46, juvenile- onset (CTRCT46) [MIM:212500]
51934 Q8NC60 (NOA1) A S 153 rs3733306 Benign
51935 Q8NC60 (NOA1) K R 450 rs11553077 Benign
51936 Q8NC67 (NETO2) S T 456 rs2231983 Benign
51937 Q8NC74 (RBBP8NL) D N 348 rs3810553 Benign
51938 Q8NC74 (RBBP8NL) A T 408 rs10888228 Benign
51939 Q8NC74 (RBBP8NL) E K 607 rs6089366 Benign
51940 Q8NC74 (RBBP8NL) L R 637 rs2236200 Benign
51941 Q8NC96 (NECAP1) D N 224 rs2231752 Benign
51942 Q8NCB2 (CAMKV) E D 279 rs56071455 Benign
51943 Q8NCB2 (CAMKV) P L 472 rs56307047 Benign
51944 Q8NCB2 (CAMKV) Y C 491 rs17849325 Benign
51945 Q8NCD3 (HJURP) T A 4 rs2302154 Benign
51946 Q8NCD3 (HJURP) E K 76 rs2286430 Benign
51947 Q8NCD3 (HJURP) R G 199 rs3806589 Benign
51948 Q8NCD3 (HJURP) S C 295 rs3732215 Benign
51949 Q8NCD3 (HJURP) S T 548 rs17863822 Benign
51950 Q8NCD3 (HJURP) S C 549 rs3821238 Benign
51951 Q8NCD3 (HJURP) E D 568 rs3771333 Benign
51952 Q8NCD3 (HJURP) S F 691 rs12582 Benign
51953 Q8NCD3 (HJURP) E G 723 rs10511 Benign
51954 Q8NCE0 (TSEN2) R H 41 rs12495784 Benign
51955 Q8NCE0 (TSEN2) R H 126 rs33955793 Benign
51956 Q8NCE0 (TSEN2) Y C 309 rs113994149 Disease: Pontocerebel lar hypoplasia 2B (PCH2B) [MIM:612389]
51957 Q8NCE2 (MTMR14) R Q 336 rs121434509 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
51958 Q8NCE2 (MTMR14) Y C 462 rs121434510 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
51959 Q8NCF5 (NFATC2IP) R W 33 rs7201257 Benign
51960 Q8NCG5 (CHST4) H Q 361 rs3813744 Benign
51961 Q8NCG7 (DAGLB) Q R 664 rs2303361 Benign
51962 Q8NCH0 (CHST14) R G 135 rs267606727 Disease: Ehlers- Danlos syndrome, musculocontr actural type 1 (EDSMC1) [MIM:601776]
51963 Q8NCH0 (CHST14) L Q 137 rs267606728 Disease: Ehlers- Danlos syndrome, musculocontr actural type 1 (EDSMC1) [MIM:601776]
51964 Q8NCH0 (CHST14) R P 213 rs121908257 Disease: Ehlers- Danlos syndrome, musculocontr actural type 1 (EDSMC1) [MIM:601776]
51965 Q8NCH0 (CHST14) P L 281 rs267606729 Disease: Ehlers- Danlos syndrome, musculocontr actural type 1 (EDSMC1) [MIM:601776]
51966 Q8NCH0 (CHST14) C S 289 rs267606731 Disease: Ehlers- Danlos syndrome, musculocontr actural type 1 (EDSMC1) [MIM:601776]
51967 Q8NCH0 (CHST14) Y C 293 rs121908258 Disease: Ehlers- Danlos syndrome, musculocontr actural type 1 (EDSMC1) [MIM:601776]
51968 Q8NCI6 (GLB1L3) R P 163 rs472287 Benign
51969 Q8NCI6 (GLB1L3) V M 474 rs2509062 Benign
51970 Q8NCK3 (ZNF485) A T 252 rs12354886 Benign
51971 Q8NCK7 (SLC16A11) V I 113 rs117767867 Benign
51972 Q8NCK7 (SLC16A11) D G 127 rs13342692 Benign
51973 Q8NCK7 (SLC16A11) G S 340 rs75418188 Benign
51974 Q8NCK7 (SLC16A11) P T 443 rs75493593 Benign
51975 Q8NCL4 (GALNT6) V I 423 rs747300 Benign
51976 Q8NCL8 (TMEM116) C G 22 rs3752630 Benign
51977 Q8NCL9 (APCDD1L) C R 30 rs3946003 Benign
51978 Q8NCL9 (APCDD1L) Y H 80 rs7265854 Benign
51979 Q8NCL9 (APCDD1L) R Q 83 rs7265902 Benign
51980 Q8NCL9 (APCDD1L) R C 261 rs16981999 Benign
51981 Q8NCM2 (KCNH5) A T 745 rs4902176 Benign
51982 Q8NCM8 (DYNC2H1) F I 209 rs771511132 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51983 Q8NCM8 (DYNC2H1) T P 302 rs12803695 Benign
51984 Q8NCM8 (DYNC2H1) Q L 304 rs12146610 Benign
51985 Q8NCM8 (DYNC2H1) R C 330 rs397514637 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51986 Q8NCM8 (DYNC2H1) R G 338 rs1322077043 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51987 Q8NCM8 (DYNC2H1) H Y 341 rs17301182 Benign
51988 Q8NCM8 (DYNC2H1) R C 430 rs374073337 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51989 Q8NCM8 (DYNC2H1) R Q 456 rs17099969 Benign
51990 Q8NCM8 (DYNC2H1) K R 495 - Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51991 Q8NCM8 (DYNC2H1) R C 587 rs137853030 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51992 Q8NCM8 (DYNC2H1) R K 789 rs7358374 Benign
51993 Q8NCM8 (DYNC2H1) L P 871 - Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51994 Q8NCM8 (DYNC2H1) R K 1221 rs12794914 Benign
51995 Q8NCM8 (DYNC2H1) L I 1228 rs189806840 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51996 Q8NCM8 (DYNC2H1) I T 1240 rs137853028 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51997 Q8NCM8 (DYNC2H1) T A 1288 rs17301750 Benign
51998 Q8NCM8 (DYNC2H1) M V 1379 - Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
51999 Q8NCM8 (DYNC2H1) K R 1413 rs688906 Benign
52000 Q8NCM8 (DYNC2H1) R C 1423 rs745870321 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52001 Q8NCM8 (DYNC2H1) G D 1442 rs763571787 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52002 Q8NCM8 (DYNC2H1) Q R 1537 rs137853033 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52003 Q8NCM8 (DYNC2H1) T A 1987 rs137853035 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52004 Q8NCM8 (DYNC2H1) M K 1991 rs1202784860 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52005 Q8NCM8 (DYNC2H1) M L 1991 rs137853025 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52006 Q8NCM8 (DYNC2H1) R H 2205 rs137853031 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52007 Q8NCM8 (DYNC2H1) M V 2227 rs750249486 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52008 Q8NCM8 (DYNC2H1) A T 2304 rs747348765 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52009 Q8NCM8 (DYNC2H1) N S 2362 - Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52010 Q8NCM8 (DYNC2H1) G V 2461 rs137853034 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52011 Q8NCM8 (DYNC2H1) R Q 2481 rs781326398 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52012 Q8NCM8 (DYNC2H1) P S 2496 rs397514636 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52013 Q8NCM8 (DYNC2H1) R W 2532 rs1350329646 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52014 Q8NCM8 (DYNC2H1) V M 2555 rs746195428 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52015 Q8NCM8 (DYNC2H1) Y C 2573 rs1278825521 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52016 Q8NCM8 (DYNC2H1) I T 2640 rs1265669915 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52017 Q8NCM8 (DYNC2H1) R Q 2662 rs397514635 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52018 Q8NCM8 (DYNC2H1) I M 2819 rs1060501431 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52019 Q8NCM8 (DYNC2H1) R Q 2871 rs589623 Benign
52020 Q8NCM8 (DYNC2H1) D G 3015 rs137853027 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52021 Q8NCM8 (DYNC2H1) P L 3381 rs368631447 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52022 Q8NCM8 (DYNC2H1) A V 3680 rs10895391 Benign
52023 Q8NCM8 (DYNC2H1) L V 3762 - Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52024 Q8NCM8 (DYNC2H1) R C 3806 rs754753584 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52025 Q8NCM8 (DYNC2H1) W G 3847 rs752554582 Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52026 Q8NCM8 (DYNC2H1) G D 3909 rs201479015 Disease: -
52027 Q8NCM8 (DYNC2H1) S N 3976 rs4754914 Benign
52028 Q8NCM8 (DYNC2H1) Q P 4139 rs1793493 Benign
52029 Q8NCM8 (DYNC2H1) L R 4232 - Disease: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
52030 Q8NCN5 (PDPR) Y H 109 rs2549532 Benign
52031 Q8NCP5 (ZBTB44) K E 185 rs17857365 Benign
52032 Q8NCQ5 (FBXO15) Y H 496 rs35815390 Benign
52033 Q8NCQ7 (PROCA1) D A 245 rs1077127 Benign
52034 Q8NCQ7 (PROCA1) E K 320 rs3744637 Benign
52035 Q8NCR0 (B3GALNT2) G E 247 rs367543072 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
52036 Q8NCR0 (B3GALNT2) V G 252 rs367543073 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
52037 Q8NCR0 (B3GALNT2) V M 268 rs367543074 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
52038 Q8NCR0 (B3GALNT2) R P 292 rs367543076 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
52039 Q8NCR6 (SMRP1) P Q 233 rs17852663 Benign
52040 Q8NCR9 (CLRN3) I N 22 - Benign
52041 Q8NCR9 (CLRN3) F I 75 rs35070529 Benign
52042 Q8NCT1 (ARRDC4) T A 79 rs12101554 Benign
52043 Q8NCT1 (ARRDC4) P S 347 rs17856817 Benign
52044 Q8NCT1 (ARRDC4) S P 358 rs2130882 Benign
52045 Q8NCU4 (CCDC191) R W 374 rs17603649 Benign
52046 Q8NCU4 (CCDC191) E D 696 rs6784095 Benign
52047 Q8NCV1 (ADAD2) G E 44 rs8044695 Benign
52048 Q8NCV1 (ADAD2) G R 235 rs11149631 Benign
52049 Q8NCW0 (KREMEN2) A P 408 rs11866302 Benign
52050 Q8NCW5 (NAXE) V L 19 rs7516274 Benign
52051 Q8NCW5 (NAXE) A D 94 rs879255647 Disease: Encephalopat hy, progressive, early-onset, with brain edema and/or leukoencepha lopathy (PEBEL) [MIM:617186]
52052 Q8NCW5 (NAXE) D V 218 rs886041064 Disease: Encephalopat hy, progressive, early-onset, with brain edema and/or leukoencepha lopathy (PEBEL) [MIM:617186]
52053 Q8NCW6 (GALNT11) P S 151 rs6464201 Benign
52054 Q8NCW6 (GALNT11) D Y 197 rs3778922 Benign
52055 Q8NCX0 (CCDC150) E K 156 rs34133636 Benign
52056 Q8ND04 (SMG8) P L 280 rs8068240 Benign
52057 Q8ND07 (BBOF1) R Q 58 rs3784039 Benign
52058 Q8ND07 (BBOF1) R K 183 rs17182762 Benign
52059 Q8ND07 (BBOF1) D V 230 rs3784038 Benign
52060 Q8ND07 (BBOF1) K E 496 rs3742809 Benign
52061 Q8ND23 (CARMIL3) L M 1022 rs10146906 Benign
52062 Q8ND30 (PPFIBP2) R G 658 rs4758209 Benign
52063 Q8ND56 (LSM14A) R Q 238 rs36006556 Benign
52064 Q8ND56 (LSM14A) R Q 448 rs2274896 Benign
52065 Q8ND61 (C3orf20) G D 42 rs17040154 Benign
52066 Q8ND61 (C3orf20) D N 65 rs9821143 Benign
52067 Q8ND61 (C3orf20) A T 176 rs17040196 Benign
52068 Q8ND61 (C3orf20) Q R 205 rs34230332 Benign
52069 Q8ND61 (C3orf20) S Y 230 rs17852774 Benign
52070 Q8ND61 (C3orf20) A T 298 rs17040196 Benign
52071 Q8ND61 (C3orf20) I V 407 rs6765537 Benign
52072 Q8ND61 (C3orf20) L V 422 rs6790129 Benign
52073 Q8ND61 (C3orf20) A V 689 rs34045813 Benign
52074 Q8ND71 (GIMAP8) I T 301 rs2293283 Benign
52075 Q8ND90 (PNMA1) M V 54 rs35129712 Benign
52076 Q8ND90 (PNMA1) R P 215 rs34413931 Benign
52077 Q8NDA8 (MROH1) A V 38 rs34819224 Benign
52078 Q8NDB2 (BANK1) R H 61 rs10516487 Benign
52079 Q8NDB2 (BANK1) A T 383 rs3733197 Benign
52080 Q8NDB2 (BANK1) C R 650 rs3113676 Benign
52081 Q8NDD1 (C1orf131) L V 28 rs2274067 Benign
52082 Q8NDH2 (CCDC168) P S 30 rs11843669 Benign
52083 Q8NDH2 (CCDC168) M V 94 rs17592459 Benign
52084 Q8NDH2 (CCDC168) G S 264 rs9518825 Benign
52085 Q8NDH2 (CCDC168) S P 314 rs9300758 Benign
52086 Q8NDH2 (CCDC168) L P 347 rs9300757 Benign
52087 Q8NDH2 (CCDC168) G A 382 rs17507841 Benign
52088 Q8NDH2 (CCDC168) R T 1015 rs7982465 Benign
52089 Q8NDH2 (CCDC168) N S 1121 rs7983175 Benign
52090 Q8NDH2 (CCDC168) R Q 1209 rs17592438 Benign
52091 Q8NDH2 (CCDC168) F L 1287 rs7335290 Benign
52092 Q8NDH2 (CCDC168) L P 1382 rs6491707 Benign
52093 Q8NDH2 (CCDC168) R C 1446 rs9300756 Benign
52094 Q8NDH2 (CCDC168) T M 1483 rs17507827 Benign
52095 Q8NDH2 (CCDC168) E A 1879 rs9514051 Benign
52096 Q8NDH2 (CCDC168) K E 1915 rs9554897 Benign
52097 Q8NDH3 (NPEPL1) K R 303 rs8116292 Benign
52098 Q8NDH3 (NPEPL1) L V 513 rs6026468 Benign
52099 Q8NDI1 (EHBP1) K Q 755 rs17432615 Benign
52100 Q8NDL9 (AGBL5) R W 276 rs879253769 Disease: Retinitis pigmentosa 75 (RP75) [MIM:617023]
52101 Q8NDL9 (AGBL5) D N 295 rs879253768 Disease: Retinitis pigmentosa 75 (RP75) [MIM:617023]
52102 Q8NDL9 (AGBL5) G D 649 rs35804461 Benign
52103 Q8NDM7 (CFAP43) I T 393 rs10883979 Benign
52104 Q8NDM7 (CFAP43) L F 616 rs35901897 Benign
52105 Q8NDM7 (CFAP43) V I 634 rs17116635 Benign
52106 Q8NDM7 (CFAP43) A S 835 rs12262825 Benign
52107 Q8NDN9 (RCBTB1) A V 24 rs4942848 Benign
52108 Q8NDN9 (RCBTB1) V M 307 rs368217569 Disease: Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
52109 Q8NDN9 (RCBTB1) W C 310 rs772592456 Disease: Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
52110 Q8NDN9 (RCBTB1) H Y 325 rs200826424 Disease: Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
52111 Q8NDN9 (RCBTB1) L F 388 rs879255547 Disease: Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
52112 Q8NDN9 (RCBTB1) T I 500 - Benign
52113 Q8NDP4 (ZNF439) P S 6 rs10421552 Benign
52114 Q8NDP4 (ZNF439) L S 427 rs10500209 Benign
52115 Q8NDQ6 (ZNF540) D V 53 rs1975937 Benign
52116 Q8NDQ6 (ZNF540) G R 340 rs571893947 Benign
52117 Q8NDV1 (ST6GALNAC) L I 223 rs1184626 Benign
52118 Q8NDV3 (SMC1B) F V 473 rs136603 Benign
52119 Q8NDV3 (SMC1B) R Q 758 rs9614653 Benign
52120 Q8NDV3 (SMC1B) S A 1008 rs16993928 Benign
52121 Q8NDV3 (SMC1B) L M 1050 rs5764698 Benign
52122 Q8NDV7 (TNRC6A) N K 185 rs11639856 Benign
52123 Q8NDV7 (TNRC6A) A T 592 rs6497759 Benign
52124 Q8NDV7 (TNRC6A) P S 788 rs3803716 Benign
52125 Q8NDV7 (TNRC6A) E K 1268 rs2112782 Benign
52126 Q8NDW4 (ZNF248) K E 218 rs11011379 Benign
52127 Q8NDW8 (TTC21A) R Q 91 rs1112438 Benign
52128 Q8NDW8 (TTC21A) V L 108 rs17855763 Benign
52129 Q8NDW8 (TTC21A) Y C 114 rs750057655 Disease: Spermatogeni c failure 37 (SPGF37) [MIM:618429]
52130 Q8NDW8 (TTC21A) R K 290 rs1274972 Benign
52131 Q8NDW8 (TTC21A) E K 293 rs1274971 Benign
52132 Q8NDW8 (TTC21A) R W 622 rs35581078 Benign
52133 Q8NDW8 (TTC21A) R H 719 rs9861353 Benign
52134 Q8NDW8 (TTC21A) R Q 719 rs9861353 Benign
52135 Q8NDW8 (TTC21A) R L 1055 rs35934336 Benign
52136 Q8NDW8 (TTC21A) S R 1160 rs34201693 Benign
52137 Q8NDW8 (TTC21A) R K 1316 rs704959 Benign
52138 Q8NDX1 (PSD4) G R 83 rs1562277 Benign
52139 Q8NDX1 (PSD4) S P 233 rs12472091 Benign
52140 Q8NDX1 (PSD4) G A 269 rs4849167 Benign
52141 Q8NDX1 (PSD4) R Q 637 rs45487591 Benign
52142 Q8NDX1 (PSD4) I V 658 rs45574835 Benign
52143 Q8NDX2 (SLC17A8) T I 8 rs45610843 Benign
52144 Q8NDX2 (SLC17A8) A V 211 rs121918339 Disease: Deafness, autosomal dominant, 25 (DFNA25) [MIM:605583]
52145 Q8NDX2 (SLC17A8) A T 220 rs11568530 Benign
52146 Q8NDX2 (SLC17A8) G E 246 rs11568543 Benign
52147 Q8NDX9 (LY6G5B) D N 102 rs805267 Benign
52148 Q8NDX9 (LY6G5B) S Y 131 rs11758242 Benign
52149 Q8NDX9 (LY6G5B) R C 176 rs9267532 Benign
52150 Q8NDY3 (ADPRHL1) A V 7 rs9577273 Benign
52151 Q8NDY8 (TMEM52) M T 141 rs28640257 Benign
52152 Q8NDY8 (TMEM52) M V 141 rs4459050 Benign
52153 Q8NDZ0 (BEND2) F L 154 rs17274127 Benign
52154 Q8NDZ0 (BEND2) S F 188 rs12859329 Benign
52155 Q8NDZ2 (SIMC1) S F 221 rs2001605 Benign
52156 Q8NDZ2 (SIMC1) K R 463 rs17857141 Benign
52157 Q8NDZ2 (SIMC1) S F 636 rs2001605 Benign
52158 Q8NDZ2 (SIMC1) H R 772 rs17853733 Benign
52159 Q8NE00 (TMEM104) V M 58 rs2016126 Benign
52160 Q8NE00 (TMEM104) A T 439 rs3803784 Benign
52161 Q8NE09 (RGS22) R M 397 rs2446927 Benign
52162 Q8NE09 (RGS22) H Y 943 rs3133711 Benign
52163 Q8NE18 (NSUN7) S A 308 rs2437323 Benign
52164 Q8NE18 (NSUN7) T A 622 rs4861066 Benign
52165 Q8NE22 (SETD9) S T 76 rs2257505 Benign
52166 Q8NE22 (SETD9) K E 209 rs40497 Benign
52167 Q8NE28 (STKLD1) E K 473 rs3124747 Benign
52168 Q8NE28 (STKLD1) R Q 568 rs17150554 Benign
52169 Q8NE31 (FAM13C) P H 82 rs17853626 Benign
52170 Q8NE35 (CPEB3) R W 324 rs17853616 Benign
52171 Q8NE62 (CHDH) E A 40 rs9001 Benign
52172 Q8NE62 (CHDH) L R 78 rs12676 Benign
52173 Q8NE62 (CHDH) N S 441 rs34974961 Benign
52174 Q8NE63 (HIPK4) A T 106 rs34434715 Benign
52175 Q8NE63 (HIPK4) V M 171 rs55964225 Benign
52176 Q8NE63 (HIPK4) R Q 302 rs11670988 Benign
52177 Q8NE63 (HIPK4) T M 381 rs55760165 Benign
52178 Q8NE63 (HIPK4) A T 386 rs56365273 Benign
52179 Q8NE63 (HIPK4) S R 406 rs56094851 Benign
52180 Q8NE63 (HIPK4) G S 421 rs56117722 Benign
52181 Q8NE63 (HIPK4) R C 481 rs55801979 Benign
52182 Q8NE71 (ABCF1) N D 198 rs6902544 Benign
52183 Q8NE79 (BVES) M I 127 rs9486039 Benign
52184 Q8NE79 (BVES) R W 129 rs2275289 Benign
52185 Q8NE79 (BVES) S F 201 rs869025337 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 25 (LGMDR25) [MIM:616812]
52186 Q8NEA4 (FBXO36) L F 86 rs1035834 Benign
52187 Q8NEA5 (C19orf18) H Y 208 rs8110831 Benign
52188 Q8NEA6 (GLIS3) S P 269 rs806052 Benign
52189 Q8NEA6 (GLIS3) P Q 301 rs6415788 Benign
52190 Q8NEA6 (GLIS3) P L 578 rs10973986 Benign
52191 Q8NEB7 (ACRBP) T A 336 rs3741923 Benign
52192 Q8NEC5 (CATSPER1) G S 133 rs1203998 Benign
52193 Q8NEC5 (CATSPER1) V I 652 rs3814747 Benign
52194 Q8NEC5 (CATSPER1) T P 730 rs34958219 Benign
52195 Q8NEE6 (FBXL13) I M 74 rs7805950 Benign
52196 Q8NEE6 (FBXL13) G A 313 rs17135923 Benign
52197 Q8NEE6 (FBXL13) I V 535 rs17135873 Benign
52198 Q8NEE6 (FBXL13) Y C 565 rs17136118 Benign
52199 Q8NEE6 (FBXL13) D G 692 rs17852944 Benign
52200 Q8NEE8 (TTC16) M T 405 rs17852941 Benign
52201 Q8NEE8 (TTC16) E G 588 rs13298768 Benign
52202 Q8NEE8 (TTC16) Y C 809 rs4837178 Benign
52203 Q8NEE8 (TTC16) A S 872 rs17852943 Benign
52204 Q8NEF3 (CCDC112) H L 32 rs34457718 Benign
52205 Q8NEF3 (CCDC112) S N 144 rs34056787 Benign
52206 Q8NEF3 (CCDC112) K N 341 rs17856922 Benign
52207 Q8NEF3 (CCDC112) E G 354 rs17852930 Benign
52208 Q8NEG0 (FAM71C) R G 30 rs11109968 Benign
52209 Q8NEG0 (FAM71C) M V 71 rs11109969 Benign
52210 Q8NEG2 (C7orf57) A S 74 rs10951942 Benign
52211 Q8NEG4 (FAM83F) R S 245 rs12330063 Benign
52212 Q8NEG4 (FAM83F) G S 353 rs35823589 Benign
52213 Q8NEG4 (FAM83F) R G 436 rs5995794 Benign
52214 Q8NEH6 (MNS1) C Y 10 rs34807682 Benign
52215 Q8NEH6 (MNS1) Q P 55 rs1715919 Benign
52216 Q8NEH6 (MNS1) I T 216 rs35775595 Benign
52217 Q8NEH6 (MNS1) Y H 244 rs17852882 Benign
52218 Q8NEH6 (MNS1) E G 426 rs17853357 Benign
52219 Q8NEJ9 (NGDN) V L 15 rs10149626 Benign
52220 Q8NEJ9 (NGDN) K I 308 rs17093050 Benign
52221 Q8NEK5 (ZNF548) A S 58 rs17856896 Benign
52222 Q8NEK5 (ZNF548) A T 73 rs4801478 Benign
52223 Q8NEK8 (TENT5D) D E 185 rs1113265 Benign
52224 Q8NEL0 (CCDC54) R Q 38 rs709564 Benign
52225 Q8NEM0 (MCPH1) T R 27 rs199422124 Disease: Microcephaly 1, primary, autosomal recessive (MCPH1) [MIM:251200]
52226 Q8NEM0 (MCPH1) R S 171 rs2442513 Benign
52227 Q8NEM0 (MCPH1) A T 212 rs2922828 Benign
52228 Q8NEM0 (MCPH1) I V 264 rs34121009 Benign
52229 Q8NEM0 (MCPH1) P H 288 rs35590577 Benign
52230 Q8NEM0 (MCPH1) R I 304 rs2083914 Benign
52231 Q8NEM0 (MCPH1) D H 314 rs930557 Benign
52232 Q8NEM0 (MCPH1) D G 392 rs2515569 Benign
52233 Q8NEM0 (MCPH1) S G 580 rs17076894 Benign
52234 Q8NEM0 (MCPH1) L F 602 rs34418490 Benign
52235 Q8NEM0 (MCPH1) T N 682 rs12674488 Benign
52236 Q8NEM0 (MCPH1) A V 761 rs1057090 Benign
52237 Q8NEM0 (MCPH1) P S 828 rs1057091 Benign
52238 Q8NEM1 (ZNF680) S F 132 rs11768951 Benign
52239 Q8NEM1 (ZNF680) D G 330 rs17856885 Benign
52240 Q8NEM1 (ZNF680) N D 525 rs17852813 Benign
52241 Q8NEM2 (SHCBP1) M T 21 rs6598679 Benign
52242 Q8NEM2 (SHCBP1) M R 60 rs11545690 Benign
52243 Q8NEM7 (SUPT20H) M V 154 rs7324275 Benign
52244 Q8NEM7 (SUPT20H) T M 773 rs9469 Benign
52245 Q8NEM8 (AGBL3) F Y 45 rs2348049 Benign
52246 Q8NEM8 (AGBL3) E Q 122 rs4236655 Benign
52247 Q8NEM8 (AGBL3) T I 360 rs17804854 Benign
52248 Q8NEN0 (ARMC2) M T 166 rs9386758 Benign
52249 Q8NEN0 (ARMC2) N D 433 rs17852775 Benign
52250 Q8NEN9 (PDZD8) V A 806 rs35664484 Benign
52251 Q8NEN9 (PDZD8) R Q 897 rs363294 Benign
52252 Q8NEP3 (DNAAF1) L R 175 rs267607227 Disease: Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193]
52253 Q8NEP3 (DNAAF1) D E 387 rs36062234 Benign
52254 Q8NEP3 (DNAAF1) K R 393 rs17856705 Benign
52255 Q8NEP3 (DNAAF1) E D 432 rs9972733 Benign
52256 Q8NEP3 (DNAAF1) P L 502 rs11644164 Benign
52257 Q8NEP3 (DNAAF1) F C 545 rs17856706 Benign
52258 Q8NEP3 (DNAAF1) L S 633 rs2288020 Benign
52259 Q8NEP3 (DNAAF1) L P 659 rs2288022 Benign
52260 Q8NEP3 (DNAAF1) L V 659 rs2288021 Benign
52261 Q8NEP3 (DNAAF1) S T 675 rs2288023 Benign
52262 Q8NEP3 (DNAAF1) G R 703 rs4150188 Benign
52263 Q8NEP3 (DNAAF1) P A 712 rs4150187 Benign
52264 Q8NEP4 (C17orf47) P T 88 rs8071623 Benign
52265 Q8NEP4 (C17orf47) G S 461 rs17822735 Benign
52266 Q8NEP4 (C17orf47) C G 546 rs16943091 Benign
52267 Q8NEP7 (KLHDC9) S R 171 rs11576830 Benign
52268 Q8NEP7 (KLHDC9) A T 282 rs1128750 Benign
52269 Q8NEP7 (KLHDC9) N S 288 rs1128750 Benign
52270 Q8NEP9 (ZNF555) N D 107 rs17856649 Benign
52271 Q8NEP9 (ZNF555) P L 137 rs36012545 Benign
52272 Q8NEP9 (ZNF555) H N 194 rs17851955 Benign
52273 Q8NEP9 (ZNF555) K T 515 rs17856648 Benign
52274 Q8NEQ5 (C1orf162) G S 3 rs6703267 Benign
52275 Q8NEQ6 (SRARP) L F 112 rs34950166 Benign
52276 Q8NER1 (TRPV1) P S 91 rs222749 Benign
52277 Q8NER1 (TRPV1) M I 315 rs222747 Benign
52278 Q8NER1 (TRPV1) T I 469 rs224534 Benign
52279 Q8NER1 (TRPV1) T A 505 rs17633288 Benign
52280 Q8NER1 (TRPV1) I V 585 rs8065080 Benign
52281 Q8NER5 (ACVR1C) I T 195 rs56188432 Benign
52282 Q8NER5 (ACVR1C) G R 216 rs34742924 Benign
52283 Q8NER5 (ACVR1C) I V 355 rs35500979 Benign
52284 Q8NER5 (ACVR1C) I V 482 rs7594480 Benign
52285 Q8NES3 (LFNG) G R 38 - Benign
52286 Q8NES3 (LFNG) F L 188 rs104894024 Disease: Spondylocost al dysostosis 3, autosomal recessive (SCDO3) [MIM:609813]
52287 Q8NES3 (LFNG) V M 346 rs71647813 Benign
52288 Q8NET1 (DEFB108B) I V 27 rs12285436 Benign
52289 Q8NET1 (DEFB108B) R W 36 rs12793731 Benign
52290 Q8NET1 (DEFB108B) H L 45 rs12285495 Benign
52291 Q8NET1 (DEFB108B) Q R 53 rs7120658 Benign
52292 Q8NET4 (RTL9) P S 777 rs35495390 Benign
52293 Q8NET5 (NFAM1) H Y 137 rs34296033 Benign
52294 Q8NET5 (NFAM1) N K 187 rs17003048 Benign
52295 Q8NET6 (CHST13) P S 146 rs34311016 Benign
52296 Q8NET6 (CHST13) A V 271 rs1056523 Benign
52297 Q8NET6 (CHST13) R Q 317 rs1056522 Benign
52298 Q8NET8 (TRPV3) I V 25 rs322965 Benign
52299 Q8NET8 (TRPV3) R G 117 rs322937 Benign
52300 Q8NET8 (TRPV3) G C 573 rs199473704 Disease: Olmsted syndrome (OLMS) [MIM:614594]
52301 Q8NET8 (TRPV3) G S 573 rs199473704 Disease: Olmsted syndrome (OLMS) [MIM:614594]
52302 Q8NET8 (TRPV3) Q P 580 rs786205869 Disease: Palmoplantar keratoderma, non-epidermo lytic, focal 2 (FNEPPK2) [MIM:616400]
52303 Q8NET8 (TRPV3) W G 692 rs199473705 Disease: Olmsted syndrome (OLMS) [MIM:614594]
52304 Q8NET8 (TRPV3) T I 774 rs7212634 Benign
52305 Q8NEU8 (APPL2) A V 433 rs2272495 Benign
52306 Q8NEV4 (MYO3A) T I 178 rs33968748 Benign
52307 Q8NEV4 (MYO3A) D N 204 rs3737274 Benign
52308 Q8NEV4 (MYO3A) R H 319 rs3824700 Benign
52309 Q8NEV4 (MYO3A) I V 348 rs3824699 Benign
52310 Q8NEV4 (MYO3A) V I 369 rs3817420 Benign
52311 Q8NEV4 (MYO3A) A S 833 rs33947968 Benign
52312 Q8NEV4 (MYO3A) S N 956 rs3758449 Benign
52313 Q8NEV4 (MYO3A) A T 1032 rs34918608 Benign
52314 Q8NEV4 (MYO3A) V M 1045 rs35447806 Benign
52315 Q8NEV4 (MYO3A) V M 1137 rs35449183 Benign
52316 Q8NEV4 (MYO3A) V A 1195 rs35675577 Benign
52317 Q8NEV4 (MYO3A) T S 1284 rs3740231 Benign
52318 Q8NEV4 (MYO3A) P T 1287 rs35575696 Benign
52319 Q8NEV4 (MYO3A) R S 1313 rs1999240 Benign
52320 Q8NEV4 (MYO3A) T I 1417 rs34151474 Benign
52321 Q8NEV4 (MYO3A) K E 1488 rs34204285 Benign
52322 Q8NEV8 (EXPH5) R G 19 rs2640738 Benign
52323 Q8NEV8 (EXPH5) R L 118 rs3741046 Benign
52324 Q8NEV8 (EXPH5) E V 137 rs2640785 Benign
52325 Q8NEV8 (EXPH5) R Q 328 rs11212684 Benign
52326 Q8NEV8 (EXPH5) M L 512 rs17108127 Benign
52327 Q8NEV8 (EXPH5) V F 525 rs12146448 Benign
52328 Q8NEV8 (EXPH5) S N 676 rs2846412 Benign
52329 Q8NEV8 (EXPH5) D N 777 rs3741048 Benign
52330 Q8NEV8 (EXPH5) L P 853 rs10749920 Benign
52331 Q8NEV8 (EXPH5) N Y 892 rs10890850 Benign
52332 Q8NEV8 (EXPH5) V A 899 rs17108112 Benign
52333 Q8NEV8 (EXPH5) M I 1147 rs34012545 Benign
52334 Q8NEV8 (EXPH5) S A 1236 rs35520914 Benign
52335 Q8NEV8 (EXPH5) D N 1240 rs11828459 Benign
52336 Q8NEV8 (EXPH5) C R 1311 rs877474 Benign
52337 Q8NEV8 (EXPH5) T A 1343 rs34978242 Benign
52338 Q8NEV8 (EXPH5) E K 1656 rs35083468 Benign
52339 Q8NEV8 (EXPH5) G R 1663 rs2640779 Benign
52340 Q8NEV8 (EXPH5) I F 1735 rs35717245 Benign
52341 Q8NEV8 (EXPH5) N D 1967 rs1943382 Benign
52342 Q8NEV9 (IL27) S A 59 rs17855750 Benign
52343 Q8NEV9 (IL27) L P 119 rs181206 Benign
52344 Q8NEW7 (TMIE) R C 81 rs28942096 Disease: Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]
52345 Q8NEW7 (TMIE) R W 84 rs28942097 Disease: Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]
52346 Q8NEW7 (TMIE) R W 92 rs28941781 Disease: Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]
52347 Q8NEX5 (WFDC9) N T 27 rs2245898 Benign
52348 Q8NEX9 (SDR9C7) R W 72 rs530109812 Disease: Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574]
52349 Q8NEX9 (SDR9C7) I T 200 rs770729222 Disease: Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574]
52350 Q8NEY1 (NAV1) Q H 937 rs16849342 Benign
52351 Q8NEY1 (NAV1) S L 1273 rs2820289 Benign
52352 Q8NEY1 (NAV1) H D 1290 rs2292822 Benign
52353 Q8NEY1 (NAV1) V I 1527 rs16849379 Benign
52354 Q8NEY3 (SPATA4) Y C 149 rs17062589 Benign
52355 Q8NEY4 (ATP6V1C2) N D 143 rs1198849 Benign
52356 Q8NEZ2 (VPS37A) I F 206 rs17502618 Benign
52357 Q8NEZ2 (VPS37A) I V 213 rs17687375 Benign
52358 Q8NEZ2 (VPS37A) K N 382 rs211694394 Disease: Spastic paraplegia 53, autosomal recessive (SPG53) [MIM:614898]
52359 Q8NEZ3 (WDR19) L P 7 rs387906982 Disease: Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) [MIM:614376]
52360 Q8NEZ3 (WDR19) A P 30 rs776967770 Disease: Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
52361 Q8NEZ3 (WDR19) V D 68 rs786204852 Disease: Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
52362 Q8NEZ3 (WDR19) G E 109 rs766029437 Disease: Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
52363 Q8NEZ3 (WDR19) R C 272 rs199812132 Disease: Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
52364 Q8NEZ3 (WDR19) V G 345 rs387906983 Disease: Nephronophth isis 13 (NPHP13) [MIM:614377]
52365 Q8NEZ3 (WDR19) D H 493 rs587777349 Disease: Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
52366 Q8NEZ3 (WDR19) L S 710 rs387906980 Disease: Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
52367 Q8NEZ3 (WDR19) G S 1084 rs16995209 Benign
52368 Q8NEZ3 (WDR19) R Q 1178 rs79436363 Disease: Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
52369 Q8NEZ3 (WDR19) E K 1235 rs587777351 Disease: Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
52370 Q8NEZ4 (KMT2C) L F 291 rs56850341 Benign
52371 Q8NEZ4 (KMT2C) T S 316 rs10454320 Benign
52372 Q8NEZ4 (KMT2C) R P 526 rs3735156 Benign
52373 Q8NEZ4 (KMT2C) I N 823 rs2838171 Benign
52374 Q8NEZ4 (KMT2C) I T 823 rs2838171 Benign
52375 Q8NEZ4 (KMT2C) S N 1836 rs11771635 Benign
52376 Q8NEZ4 (KMT2C) T A 2008 rs6951159 Benign
52377 Q8NEZ4 (KMT2C) P T 2412 rs13231116 Benign
52378 Q8NEZ4 (KMT2C) P A 2600 rs2270234 Benign
52379 Q8NF50 (DOCK8) P T 97 rs529208 Benign
52380 Q8NF50 (DOCK8) E K 169 rs11789099 Benign
52381 Q8NF50 (DOCK8) E K 237 rs11789099 Benign
52382 Q8NF50 (DOCK8) N S 413 rs10970979 Benign
52383 Q8NF50 (DOCK8) K R 473 rs112321280 Disease: Hyper-IgE recurrent infection syndrome 2, autosomal recessive (HIES2) [MIM:243700]
52384 Q8NF50 (DOCK8) A V 597 rs17673268 Benign
52385 Q8NF50 (DOCK8) I V 652 rs1381340726 Benign
52386 Q8NF50 (DOCK8) R W 1008 rs16937932 Benign
52387 Q8NF50 (DOCK8) A P 1970 rs34908836 Benign
52388 Q8NF64 (ZMIZ2) L F 408 rs3735478 Benign
52389 Q8NF91 (SYNE1) L V 885 rs17082709 Benign
52390 Q8NF91 (SYNE1) V A 1035 rs214976 Benign
52391 Q8NF91 (SYNE1) R S 1062 - Benign
52392 Q8NF91 (SYNE1) S G 2030 rs35763277 Benign
52393 Q8NF91 (SYNE1) A V 2795 rs214950 Benign
52394 Q8NF91 (SYNE1) K T 3874 rs13210127 Benign
52395 Q8NF91 (SYNE1) S T 3954 rs7775119 Benign
52396 Q8NF91 (SYNE1) E D 4060 rs4645434 Benign
52397 Q8NF91 (SYNE1) K N 4121 rs28385621 Benign
52398 Q8NF91 (SYNE1) K R 4121 rs9479297 Benign
52399 Q8NF91 (SYNE1) E K 4203 rs2130262 Benign
52400 Q8NF91 (SYNE1) V I 4546 rs4870093 Benign
52401 Q8NF91 (SYNE1) S T 4596 rs6911096 Benign
52402 Q8NF91 (SYNE1) L M 4944 rs2306916 Benign
52403 Q8NF91 (SYNE1) L M 5015 rs2306916 Benign
52404 Q8NF91 (SYNE1) M L 5377 rs35987150 Benign
52405 Q8NF91 (SYNE1) T M 5426 rs2306914 Benign
52406 Q8NF91 (SYNE1) M I 6566 rs35654757 Benign
52407 Q8NF91 (SYNE1) T I 6664 rs35079654 Benign
52408 Q8NF91 (SYNE1) Q H 6951 rs3945783 Benign
52409 Q8NF91 (SYNE1) F V 7302 rs2147377 Benign
52410 Q8NF91 (SYNE1) S G 7506 rs35763277 Benign
52411 Q8NF91 (SYNE1) R H 8095 rs119103246 Disease: Emery- Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]
52412 Q8NF91 (SYNE1) N H 8161 rs36215251 Benign
52413 Q8NF91 (SYNE1) A S 8168 rs17082236 Benign
52414 Q8NF91 (SYNE1) G A 8323 rs2252755 Benign
52415 Q8NF91 (SYNE1) E K 8461 rs119103248 Disease: Emery- Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]
52416 Q8NF91 (SYNE1) T I 8687 rs35591210 Benign
52417 Q8NF91 (SYNE1) L M 8741 rs2295190 Benign
52418 Q8NFA0 (USP32) H Y 76 rs7208980 Benign
52419 Q8NFA0 (USP32) A G 1469 rs3207630 Benign
52420 Q8NFA0 (USP32) G R 1568 rs1053621 Benign
52421 Q8NFA0 (USP32) T I 1578 rs1053625 Benign
52422 Q8NFB2 (TMEM185A) M V 179 rs396058 Benign
52423 Q8NFB2 (TMEM185A) S C 243 rs609828 Benign
52424 Q8NFC6 (BOD1L1) T M 429 rs2035820 Benign
52425 Q8NFC6 (BOD1L1) L I 650 rs1971278 Benign
52426 Q8NFC6 (BOD1L1) A G 1369 rs17745712 Benign
52427 Q8NFC6 (BOD1L1) T A 1448 rs17745676 Benign
52428 Q8NFC6 (BOD1L1) T A 1515 rs16888885 Benign
52429 Q8NFC6 (BOD1L1) V I 1645 rs17807493 Benign
52430 Q8NFC6 (BOD1L1) G S 2361 rs3822227 Benign
52431 Q8NFC6 (BOD1L1) P L 2396 rs3733557 Benign
52432 Q8NFC6 (BOD1L1) V M 2944 rs28538279 Benign
52433 Q8NFD2 (ANKK1) D Y 4 rs35657708 Benign
52434 Q8NFD2 (ANKK1) R H 122 rs35877321 Benign
52435 Q8NFD2 (ANKK1) A T 239 rs7118900 Benign
52436 Q8NFD2 (ANKK1) P L 276 rs35488601 Benign
52437 Q8NFD2 (ANKK1) G R 318 rs11604671 Benign
52438 Q8NFD2 (ANKK1) L F 366 rs56339158 Benign
52439 Q8NFD2 (ANKK1) H Q 367 rs34298987 Benign
52440 Q8NFD2 (ANKK1) E K 376 rs56299709 Benign
52441 Q8NFD2 (ANKK1) E K 426 rs55699907 Benign
52442 Q8NFD2 (ANKK1) G R 442 rs4938016 Benign
52443 Q8NFD2 (ANKK1) G R 451 rs34983219 Benign
52444 Q8NFD2 (ANKK1) H R 490 rs2734849 Benign
52445 Q8NFD2 (ANKK1) T I 595 rs55787008 Benign
52446 Q8NFD2 (ANKK1) P L 596 rs7104979 Benign
52447 Q8NFD2 (ANKK1) N S 653 rs55849504 Benign
52448 Q8NFD2 (ANKK1) S G 670 rs56006094 Benign
52449 Q8NFD2 (ANKK1) E K 713 rs1800497 Benign
52450 Q8NFD5 (ARID1B) Q H 82 - Benign
52451 Q8NFD5 (ARID1B) G S 246 rs375160616 Benign
52452 Q8NFD5 (ARID1B) A V 363 rs748273011 Benign
52453 Q8NFD5 (ARID1B) G A 396 rs760718156 Benign
52454 Q8NFD5 (ARID1B) M V 429 rs199948752 Benign
52455 Q8NFD5 (ARID1B) S N 497 rs764716697 Benign
52456 Q8NFD5 (ARID1B) M T 531 rs141260832 Benign
52457 Q8NFD5 (ARID1B) Q E 876 rs138254872 Benign
52458 Q8NFD5 (ARID1B) Q L 980 rs139620600 Benign
52459 Q8NFD5 (ARID1B) V I 1092 rs775526039 Benign
52460 Q8NFD5 (ARID1B) Q P 1249 rs768013849 Benign
52461 Q8NFD5 (ARID1B) G E 1271 rs149389876 Benign
52462 Q8NFD5 (ARID1B) G R 1303 rs199674889 Benign
52463 Q8NFD5 (ARID1B) S N 1321 rs142808724 Benign
52464 Q8NFD5 (ARID1B) P S 1411 - Benign
52465 Q8NFD5 (ARID1B) G A 1436 - Disease: -
52466 Q8NFD5 (ARID1B) Q K 1466 - Benign
52467 Q8NFD5 (ARID1B) R H 1506 rs1449208173 Benign
52468 Q8NFD5 (ARID1B) T M 1573 rs777745107 Benign
52469 Q8NFD5 (ARID1B) N S 1659 rs140177120 Benign
52470 Q8NFD5 (ARID1B) K R 1773 rs574141489 Benign
52471 Q8NFD5 (ARID1B) D N 1851 rs200305796 Benign
52472 Q8NFD5 (ARID1B) K R 1898 rs758204258 Benign
52473 Q8NFD5 (ARID1B) K R 1954 rs756220726 Benign
52474 Q8NFD5 (ARID1B) D Y 1987 - Disease: -
52475 Q8NFD5 (ARID1B) Q R 2163 - Benign
52476 Q8NFF2 (SLC24A4) A V 146 rs587777537 Disease: Amelogenesis imperfecta, hypomaturati on type, 2A5 (AI2A5) [MIM:615887]
52477 Q8NFF2 (SLC24A4) S C 499 rs587777536 Disease: Amelogenesis imperfecta, hypomaturati on type, 2A5 (AI2A5) [MIM:615887]
52478 Q8NFF2 (SLC24A4) V I 613 rs4900130 Benign
52479 Q8NFF5 (FLAD1) P L 107 rs773925274 Benign
52480 Q8NFF5 (FLAD1) R C 530 rs771466122 Disease: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) [MIM:255100]
52481 Q8NFG4 (FLCN) S I 108 - Disease: Birt-Hogg- Dube syndrome (BHD) [MIM:135150]
52482 Q8NFG4 (FLCN) E K 132 - Disease: Primary spontaneous pneumothorax (PSP) [MIM:173600]
52483 Q8NFG4 (FLCN) R C 239 rs78683075 Disease: Renal cell carcinoma (RCC) [MIM:144700]
52484 Q8NFG4 (FLCN) R C 362 rs557336321 Benign
52485 Q8NFG4 (FLCN) H Y 429 rs375082054 Disease: Primary spontaneous pneumothorax (PSP) [MIM:173600]
52486 Q8NFG4 (FLCN) K R 508 rs199643834 Disease: Birt-Hogg- Dube syndrome (BHD) [MIM:135150]
52487 Q8NFH8 (REPS2) S C 321 - Benign
52488 Q8NFI3 (ENGASE) S N 596 rs4789879 Benign
52489 Q8NFI3 (ENGASE) E K 731 rs11871357 Benign
52490 Q8NFJ5 (GPRC5A) C F 9 rs11550683 Benign
52491 Q8NFJ5 (GPRC5A) S G 118 rs850932 Benign
52492 Q8NFJ5 (GPRC5A) T A 182 rs12368599 Benign
52493 Q8NFJ6 (PROKR2) R C 85 rs141090506 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52494 Q8NFJ6 (PROKR2) R H 85 rs74315418 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52495 Q8NFJ6 (PROKR2) Y H 113 rs202203360 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52496 Q8NFJ6 (PROKR2) V M 115 rs138672528 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52497 Q8NFJ6 (PROKR2) V I 158 rs368732206 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52498 Q8NFJ6 (PROKR2) R Q 164 rs751875578 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52499 Q8NFJ6 (PROKR2) L R 173 rs74315416 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52500 Q8NFJ6 (PROKR2) W S 178 rs201835496 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52501 Q8NFJ6 (PROKR2) S L 188 rs376239580 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52502 Q8NFJ6 (PROKR2) S G 202 rs200755554 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52503 Q8NFJ6 (PROKR2) Q R 210 rs74315417 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52504 Q8NFJ6 (PROKR2) R Q 248 rs376142095 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52505 Q8NFJ6 (PROKR2) P S 290 rs149992595 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52506 Q8NFJ6 (PROKR2) M I 323 rs74315419 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52507 Q8NFJ6 (PROKR2) V M 334 rs371564610 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52508 Q8NFJ6 (PROKR2) T M 335 rs755562438 Benign
52509 Q8NFJ6 (PROKR2) R W 357 rs375036628 Disease: Hypogonadotr opic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
52510 Q8NFJ8 (BHLHE22) S A 28 rs7016250 Benign
52511 Q8NFJ9 (BBS1) H R 35 rs775990952 Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52512 Q8NFJ9 (BBS1) K E 53 rs766602837 Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52513 Q8NFJ9 (BBS1) D N 148 rs200688985 Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52514 Q8NFJ9 (BBS1) R Q 160 rs376894444 Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52515 Q8NFJ9 (BBS1) L V 206 rs146052054 Benign
52516 Q8NFJ9 (BBS1) E K 234 rs35520756 Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52517 Q8NFJ9 (BBS1) P L 245 rs151203205 Benign
52518 Q8NFJ9 (BBS1) G S 305 rs942862410 Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52519 Q8NFJ9 (BBS1) I T 330 - Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52520 Q8NFJ9 (BBS1) M R 390 rs113624356 Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52521 Q8NFJ9 (BBS1) Y S 434 - Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52522 Q8NFJ9 (BBS1) L H 503 rs778225393 Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52523 Q8NFJ9 (BBS1) L P 518 rs121917778 Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52524 Q8NFJ9 (BBS1) L Q 518 - Disease: Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
52525 Q8NFJ9 (BBS1) G D 559 rs544767888 Benign
52526 Q8NFL0 (B3GNT7) V I 233 rs2290130 Benign
52527 Q8NFM7 (IL17RD) K T 131 rs184758350 Disease: Hypogonadotr opic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
52528 Q8NFM7 (IL17RD) K R 162 - Disease: Hypogonadotr opic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
52529 Q8NFM7 (IL17RD) T M 255 rs6780995 Benign
52530 Q8NFM7 (IL17RD) V M 301 rs17057718 Benign
52531 Q8NFM7 (IL17RD) P S 306 - Disease: Hypogonadotr opic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
52532 Q8NFM7 (IL17RD) Y C 379 rs369641068 Disease: Hypogonadotr opic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
52533 Q8NFM7 (IL17RD) S L 468 rs145221454 Disease: Hypogonadotr opic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
52534 Q8NFM7 (IL17RD) P Q 577 rs587776980 Disease: Hypogonadotr opic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
52535 Q8NFM7 (IL17RD) A V 735 rs587776979 Disease: Hypogonadotr opic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
52536 Q8NFN8 (GPR156) E D 516 rs902790 Benign
52537 Q8NFP4 (MDGA1) L P 61 rs10947690 Benign
52538 Q8NFP4 (MDGA1) P S 935 rs368283829 Benign
52539 Q8NFP9 (NBEA) A P 569 rs5011295 Benign
52540 Q8NFP9 (NBEA) I V 2501 rs11538677 Benign
52541 Q8NFQ5 (BPIFB6) T M 16 rs17301126 Benign
52542 Q8NFQ5 (BPIFB6) V I 97 rs2070317 Benign
52543 Q8NFQ5 (BPIFB6) P T 149 rs11907355 Benign
52544 Q8NFQ5 (BPIFB6) R H 296 rs79809934 Benign
52545 Q8NFQ5 (BPIFB6) S G 347 rs4911287 Benign
52546 Q8NFQ6 (BPIFC) V A 269 rs2076051 Benign
52547 Q8NFQ6 (BPIFC) V L 302 rs5994570 Benign
52548 Q8NFQ6 (BPIFC) S P 451 rs5998478 Benign
52549 Q8NFQ6 (BPIFC) E A 479 rs35856742 Benign
52550 Q8NFR7 (CCDC148) Q R 75 rs4664950 Benign
52551 Q8NFR7 (CCDC148) M V 157 rs12620556 Benign
52552 Q8NFR7 (CCDC148) K R 329 rs7559772 Benign
52553 Q8NFR9 (IL17RE) Y C 219 rs7356031 Benign
52554 Q8NFR9 (IL17RE) P S 402 rs9870003 Benign
52555 Q8NFR9 (IL17RE) S T 417 rs7647642 Benign
52556 Q8NFT2 (STEAP2) F C 17 rs194520 Benign
52557 Q8NFT2 (STEAP2) D Y 40 rs17863046 Benign
52558 Q8NFT2 (STEAP2) G E 214 rs13228098 Benign
52559 Q8NFT2 (STEAP2) R Q 456 rs194524 Benign
52560 Q8NFT2 (STEAP2) M I 475 rs194525 Benign
52561 Q8NFT8 (DNER) P L 433 rs17853365 Benign
52562 Q8NFU0 (BEST4) Y C 62 rs16832245 Benign
52563 Q8NFU0 (BEST4) Y S 217 rs16832242 Benign
52564 Q8NFU0 (BEST4) Q E 331 rs16832241 Benign
52565 Q8NFU0 (BEST4) R L 402 rs16832239 Benign
52566 Q8NFU5 (IPMK) M I 349 rs2275443 Benign
52567 Q8NFU7 (TET1) D G 162 rs10823229 Benign
52568 Q8NFU7 (TET1) S T 193 rs12773594 Benign
52569 Q8NFU7 (TET1) A V 256 rs12221107 Benign
52570 Q8NFU7 (TET1) N S 1018 rs16925541 Benign
52571 Q8NFU7 (TET1) I M 1123 rs3998860 Benign
52572 Q8NFW1 (COL22A1) S G 320 rs2292927 Benign
52573 Q8NFW1 (COL22A1) P T 703 rs10111520 Benign
52574 Q8NFW1 (COL22A1) A D 938 rs4909444 Benign
52575 Q8NFW5 (DMBX1) A P 205 rs34614765 Benign
52576 Q8NFW9 (MYRIP) A T 312 rs59923220 Benign
52577 Q8NFW9 (MYRIP) P L 365 rs55785561 Benign
52578 Q8NFW9 (MYRIP) P S 673 rs34800524 Benign
52579 Q8NFY4 (SEMA6D) N S 307 rs3743279 Benign
52580 Q8NFY4 (SEMA6D) S N 478 rs532598 Benign
52581 Q8NFY4 (SEMA6D) S T 969 rs16960074 Benign
52582 Q8NFY9 (KBTBD8) C R 420 rs13096789 Benign
52583 Q8NFZ5 (TNIP2) Q H 249 rs116129895 Benign
52584 Q8NFZ5 (TNIP2) E K 255 rs116412781 Benign
52585 Q8NFZ5 (TNIP2) A V 396 rs2269495 Benign
52586 Q8NFZ6 (VN1R2) C R 38 rs2965249 Benign
52587 Q8NFZ8 (CADM4) T A 225 rs34246023 Benign
52588 Q8NG04 (SLC26A10) M T 130 rs971209 Benign
52589 Q8NG04 (SLC26A10) A T 193 rs923828 Benign
52590 Q8NG04 (SLC26A10) L V 546 rs774895 Benign
52591 Q8NG06 (TRIM58) W S 3 rs11204523 Benign
52592 Q8NG06 (TRIM58) V I 322 rs1339847 Benign
52593 Q8NG06 (TRIM58) T M 374 rs3811444 Benign
52594 Q8NG08 (HELB) E K 172 rs35605829 Benign
52595 Q8NG08 (HELB) L P 191 rs4430553 Benign
52596 Q8NG08 (HELB) L F 267 rs35138454 Benign
52597 Q8NG08 (HELB) T A 575 rs58589183 Benign
52598 Q8NG08 (HELB) P L 966 rs1185244 Benign
52599 Q8NG08 (HELB) T I 980 rs1168312 Benign
52600 Q8NG27 (PJA1) S N 432 rs5937160 Benign
52601 Q8NG27 (PJA1) E D 606 rs11539157 Benign
52602 Q8NG31 (KNL1) R T 43 rs7177192 Benign
52603 Q8NG31 (KNL1) T A 70 rs16970874 Benign
52604 Q8NG31 (KNL1) T A 113 rs12911738 Benign
52605 Q8NG31 (KNL1) M V 177 rs35146555 Benign
52606 Q8NG31 (KNL1) A S 486 rs2412541 Benign
52607 Q8NG31 (KNL1) M T 598 rs11858113 Benign
52608 Q8NG31 (KNL1) R G 936 rs8040502 Benign
52609 Q8NG31 (KNL1) L V 1190 rs58614880 Benign
52610 Q8NG31 (KNL1) K E 1285 rs17747633 Benign
52611 Q8NG31 (KNL1) T A 1473 rs16970911 Benign
52612 Q8NG31 (KNL1) M I 2041 rs763915472 Disease: Microcephaly 4, primary, autosomal recessive (MCPH4) [MIM:604321]
52613 Q8NG31 (KNL1) C Y 2338 rs61164860 Benign
52614 Q8NG48 (LINS1) I V 29 rs11247226 Benign
52615 Q8NG48 (LINS1) A V 331 rs34967129 Benign
52616 Q8NG48 (LINS1) V M 406 rs12719734 Benign
52617 Q8NG48 (LINS1) S T 472 rs2411837 Benign
52618 Q8NG48 (LINS1) I V 541 rs12915007 Benign
52619 Q8NG48 (LINS1) E D 641 rs12157 Benign
52620 Q8NG48 (LINS1) R S 680 rs8451 Benign
52621 Q8NG50 (RDM1) H R 32 rs2280786 Benign
52622 Q8NG50 (RDM1) C W 127 rs2251660 Benign
52623 Q8NG57 (ELOA3) L P 375 rs879354865 Benign
52624 Q8NG66 (NEK11) Y C 123 rs55806123 Benign
52625 Q8NG66 (NEK11) S L 213 rs55920129 Benign
52626 Q8NG66 (NEK11) I V 263 rs35567155 Benign
52627 Q8NG66 (NEK11) E K 451 rs35409692 Benign
52628 Q8NG66 (NEK11) E V 488 rs3738000 Benign
52629 Q8NG66 (NEK11) M T 548 rs55813244 Benign
52630 Q8NG66 (NEK11) V A 562 rs16836266 Benign
52631 Q8NG66 (NEK11) E K 606 rs55944737 Benign
52632 Q8NG75 (OR5T1) P L 60 rs7126079 Benign
52633 Q8NG75 (OR5T1) S G 164 rs12360890 Benign
52634 Q8NG76 (OR2T33) A V 169 rs10888338 Benign
52635 Q8NG77 (OR2T12) A S 41 rs12135684 Benign
52636 Q8NG77 (OR2T12) M V 69 rs6678138 Benign
52637 Q8NG77 (OR2T12) T S 104 rs12137982 Benign
52638 Q8NG77 (OR2T12) K N 296 rs11204625 Benign
52639 Q8NG77 (OR2T12) R L 301 rs6667171 Benign
52640 Q8NG81 (OR2M7) F L 35 rs7555424 Benign
52641 Q8NG81 (OR2M7) V A 78 rs7555310 Benign
52642 Q8NG81 (OR2M7) C F 178 rs4916130 Benign
52643 Q8NG81 (OR2M7) D N 191 rs4916129 Benign
52644 Q8NG84 (OR2AK2) S N 99 rs6664332 Benign
52645 Q8NG84 (OR2AK2) V M 203 rs4478844 Benign
52646 Q8NG85 (OR2L3) I T 39 rs6666048 Benign
52647 Q8NG85 (OR2L3) P L 78 rs6658227 Benign
52648 Q8NG85 (OR2L3) S L 104 rs6658256 Benign
52649 Q8NG85 (OR2L3) M V 139 rs55937620 Benign
52650 Q8NG92 (OR13H1) Y S 266 rs655415 Benign
52651 Q8NG95 (OR7G3) M V 29 rs10414255 Benign
52652 Q8NG97 (OR2Z1) R C 138 rs58741481 Benign
52653 Q8NG98 (OR7D4) L F 17 rs57568862 Benign
52654 Q8NG98 (OR7D4) D G 52 rs144165121 Benign
52655 Q8NG98 (OR7D4) S C 75 rs778417216 Benign
52656 Q8NG98 (OR7D4) P L 79 rs61732668 Benign
52657 Q8NG98 (OR7D4) S N 84 rs5020280 Benign
52658 Q8NG98 (OR7D4) R W 88 rs61729907 Benign
52659 Q8NG98 (OR7D4) H Q 131 rs748899150 Benign
52660 Q8NG98 (OR7D4) T M 133 rs5020278 Benign
52661 Q8NG98 (OR7D4) M I 136 rs5020277 Benign
52662 Q8NG98 (OR7D4) C R 139 rs1310684516 Benign
52663 Q8NG98 (OR7D4) C Y 139 rs1205320769 Benign
52664 Q8NG98 (OR7D4) L P 162 rs1321662937 Benign
52665 Q8NG98 (OR7D4) A D 279 rs138510982 Benign
52666 Q8NG98 (OR7D4) L M 292 rs4564704 Benign
52667 Q8NG99 (OR7G2) F V 281 rs4804401 Benign
52668 Q8NGA0 (OR7G1) V A 83 rs6511874 Benign
52669 Q8NGA0 (OR7G1) W C 141 rs2217657 Benign
52670 Q8NGA0 (OR7G1) A V 156 rs7246980 Benign
52671 Q8NGA0 (OR7G1) S F 167 rs7246969 Benign
52672 Q8NGA0 (OR7G1) Y C 252 rs2195951 Benign
52673 Q8NGA5 (OR10H4) N K 100 rs16980994 Benign
52674 Q8NGA5 (OR10H4) H R 144 rs16980822 Benign
52675 Q8NGA5 (OR10H4) T A 281 rs11880184 Benign
52676 Q8NGB6 (OR4M2) G E 96 rs1835183 Benign
52677 Q8NGB6 (OR4M2) D N 121 rs11857531 Benign
52678 Q8NGB6 (OR4M2) F L 225 rs491208 Benign
52679 Q8NGB6 (OR4M2) M V 239 rs12593418 Benign
52680 Q8NGB6 (OR4M2) R H 284 rs4087943 Benign
52681 Q8NGC0 (OR5AU1) V M 80 rs17102042 Benign
52682 Q8NGC0 (OR5AU1) L F 117 rs4982419 Benign
52683 Q8NGC0 (OR5AU1) S L 194 rs59120409 Benign
52684 Q8NGC0 (OR5AU1) N K 274 rs57985939 Benign
52685 Q8NGC0 (OR5AU1) I V 299 rs7145814 Benign
52686 Q8NGC1 (OR11G2) I N 99 rs4981822 Benign
52687 Q8NGC1 (OR11G2) V I 116 rs4981088 Benign
52688 Q8NGC2 (OR4E2) V M 118 rs2874103 Benign
52689 Q8NGC2 (OR4E2) Q R 234 rs970382 Benign
52690 Q8NGC3 (OR10G2) L F 67 rs10146821 Benign
52691 Q8NGC3 (OR10G2) R L 85 rs41314525 Benign
52692 Q8NGC3 (OR10G2) R P 187 rs35963889 Benign
52693 Q8NGC3 (OR10G2) R G 209 rs12894405 Benign
52694 Q8NGC4 (OR10G3) S G 73 rs17792778 Benign
52695 Q8NGC7 (OR11H6) S Y 7 rs10140652 Benign
52696 Q8NGC7 (OR11H6) L V 32 rs9323693 Benign
52697 Q8NGC7 (OR11H6) I T 107 rs12891553 Benign
52698 Q8NGC7 (OR11H6) R H 146 rs17106351 Benign
52699 Q8NGC7 (OR11H6) L F 195 rs17211285 Benign
52700 Q8NGC7 (OR11H6) Y H 236 rs17277221 Benign
52701 Q8NGC7 (OR11H6) C R 259 rs17277228 Benign
52702 Q8NGC9 (OR11H4) T S 301 rs17277270 Benign
52703 Q8NGD0 (OR4M1) T I 116 rs2635535 Benign
52704 Q8NGD0 (OR4M1) G D 232 rs2815960 Benign
52705 Q8NGD1 (OR4N2) I T 76 rs2801164 Benign
52706 Q8NGD1 (OR4N2) P S 133 rs2318279 Benign
52707 Q8NGD1 (OR4N2) V L 135 rs17114261 Benign
52708 Q8NGD2 (OR4K2) N I 307 rs12883767 Benign
52709 Q8NGD3 (OR4K5) R K 319 rs17242341 Benign
52710 Q8NGD4 (OR4K1) R H 89 rs12885778 Benign
52711 Q8NGD4 (OR4K1) R Q 138 rs3916626 Benign
52712 Q8NGD4 (OR4K1) R H 304 rs2792146 Benign
52713 Q8NGD5 (OR4K14) M V 119 rs7157076 Benign
52714 Q8NGD5 (OR4K14) L R 145 rs17308108 Benign
52715 Q8NGE0 (OR10AD1) V A 8 rs17122812 Benign
52716 Q8NGE0 (OR10AD1) R Q 166 rs17224674 Benign
52717 Q8NGE0 (OR10AD1) F V 275 rs11830378 Benign
52718 Q8NGE0 (OR10AD1) Y H 279 rs11168459 Benign
52719 Q8NGE1 (OR6C4) I V 37 rs7313899 Benign
52720 Q8NGE1 (OR6C4) M T 83 rs11835716 Benign
52721 Q8NGE3 (OR10P1) P L 88 rs10876838 Benign
52722 Q8NGE3 (OR10P1) V M 200 rs7970885 Benign
52723 Q8NGE5 (OR10A7) G S 96 rs12578318 Benign
52724 Q8NGE7 (OR9K2) R C 45 rs12303066 Benign
52725 Q8NGE7 (OR9K2) E A 103 rs7305779 Benign
52726 Q8NGE7 (OR9K2) R H 207 rs7306491 Benign
52727 Q8NGE8 (OR4D9) Q R 159 rs17501584 Benign
52728 Q8NGE9 (OR9Q2) C R 179 rs34337292 Benign
52729 Q8NGF0 (OR52B6) T A 57 rs1077126 Benign
52730 Q8NGF0 (OR52B6) L H 111 rs2341432 Benign
52731 Q8NGF0 (OR52B6) A T 167 rs2341433 Benign
52732 Q8NGF0 (OR52B6) H R 170 rs2341434 Benign
52733 Q8NGF0 (OR52B6) V I 288 rs10769086 Benign
52734 Q8NGF1 (OR52R1) F L 88 rs17327254 Benign
52735 Q8NGF1 (OR52R1) I T 129 rs7941731 Benign
52736 Q8NGF1 (OR52R1) N Y 201 rs6578533 Benign
52737 Q8NGF1 (OR52R1) S A 245 rs2053116 Benign
52738 Q8NGF3 (OR51D1) I V 89 rs905871 Benign
52739 Q8NGF4 (OR5AP2) A T 105 rs11606499 Benign
52740 Q8NGF6 (OR10W1) R Q 263 rs10792156 Benign
52741 Q8NGF7 (OR5B17) L I 80 rs4939208 Benign
52742 Q8NGF7 (OR5B17) Y C 308 rs4127353 Benign
52743 Q8NGF8 (OR4B1) C Y 63 rs11606506 Benign
52744 Q8NGF8 (OR4B1) T N 237 rs12292056 Benign
52745 Q8NGG0 (OR8J3) N T 57 rs1947924 Benign
52746 Q8NGG0 (OR8J3) V I 87 rs7937461 Benign
52747 Q8NGG0 (OR8J3) V F 208 rs1384094 Benign
52748 Q8NGG0 (OR8J3) D E 271 rs17150102 Benign
52749 Q8NGG2 (OR5T2) S Y 21 rs3919907 Benign
52750 Q8NGG2 (OR5T2) T I 64 rs11227599 Benign
52751 Q8NGG2 (OR5T2) V L 87 rs10791893 Benign
52752 Q8NGG2 (OR5T2) T M 125 rs7122514 Benign
52753 Q8NGG2 (OR5T2) L V 238 rs12221615 Benign
52754 Q8NGG2 (OR5T2) H D 309 rs7121880 Benign
52755 Q8NGG3 (OR5T3) W G 84 rs17150243 Benign
52756 Q8NGG4 (OR8H1) G S 2 rs11600896 Benign
52757 Q8NGG4 (OR8H1) E V 22 rs17540861 Benign
52758 Q8NGG5 (OR8K1) M V 21 rs10896271 Benign
52759 Q8NGG5 (OR8K1) P T 27 rs10896272 Benign
52760 Q8NGG5 (OR8K1) A T 84 rs17614327 Benign
52761 Q8NGG7 (OR8A1) T R 133 rs55861866 Benign
52762 Q8NGG7 (OR8A1) S L 218 rs12792184 Benign
52763 Q8NGG8 (OR8B3) H R 20 rs507335 Benign
52764 Q8NGG8 (OR8B3) M I 114 rs530992 Benign
52765 Q8NGH3 (OR2D3) L I 82 rs10839658 Benign
52766 Q8NGH3 (OR2D3) R W 155 rs12806437 Benign
52767 Q8NGH3 (OR2D3) W S 165 rs10839659 Benign
52768 Q8NGH7 (OR52L1) D N 88 rs4501959 Benign
52769 Q8NGH7 (OR52L1) C R 140 rs4436525 Benign
52770 Q8NGH7 (OR52L1) C R 161 rs4436524 Benign
52771 Q8NGH7 (OR52L1) K T 183 rs4354673 Benign
52772 Q8NGH7 (OR52L1) W R 297 rs4237768 Benign
52773 Q8NGH9 (OR52E4) F L 49 rs16914094 Benign
52774 Q8NGH9 (OR52E4) V I 176 rs4758168 Benign
52775 Q8NGH9 (OR52E4) R M 184 rs4757986 Benign
52776 Q8NGH9 (OR52E4) F L 227 rs11823828 Benign
52777 Q8NGH9 (OR52E4) R H 228 rs4757987 Benign
52778 Q8NGH9 (OR52E4) F L 257 rs11823842 Benign
52779 Q8NGI0 (OR52N2) S A 249 rs8181529 Benign
52780 Q8NGI0 (OR52N2) H R 264 rs8181512 Benign
52781 Q8NGI2 (OR52N4) T I 106 rs7936512 Benign
52782 Q8NGI2 (OR52N4) L R 167 rs7394584 Benign
52783 Q8NGI2 (OR52N4) W G 209 rs12363178 Benign
52784 Q8NGI2 (OR52N4) N I 218 rs7396938 Benign
52785 Q8NGI3 (OR56B1) C R 106 rs7397032 Benign
52786 Q8NGI4 (OR4D11) F L 197 rs7120079 Benign
52787 Q8NGI7 (OR10V1) V A 117 rs472177 Benign
52788 Q8NGI7 (OR10V1) Q R 123 rs499033 Benign
52789 Q8NGI8 (OR5AN1) L F 289 rs7941190 Benign
52790 Q8NGI9 (OR5A2) F L 103 rs17153691 Benign
52791 Q8NGI9 (OR5A2) P L 172 rs1453547 Benign
52792 Q8NGJ0 (OR5A1) I V 52 rs17153732 Benign
52793 Q8NGJ0 (OR5A1) D N 183 rs6591536 Benign
52794 Q8NGJ1 (OR4D6) E Q 11 rs17153766 Benign
52795 Q8NGJ1 (OR4D6) M V 59 rs1453544 Benign
52796 Q8NGJ1 (OR4D6) D G 96 rs1453543 Benign
52797 Q8NGJ1 (OR4D6) F S 102 rs17153770 Benign
52798 Q8NGJ1 (OR4D6) D A 111 rs17500380 Benign
52799 Q8NGJ1 (OR4D6) S T 151 rs1453542 Benign
52800 Q8NGJ1 (OR4D6) M T 263 rs1453541 Benign
52801 Q8NGJ2 (OR52H1) V A 45 rs56291963 Benign
52802 Q8NGJ2 (OR52H1) V I 47 rs2254076 Benign
52803 Q8NGJ2 (OR52H1) A T 89 rs10769054 Benign
52804 Q8NGJ2 (OR52H1) H R 130 rs1566275 Benign
52805 Q8NGJ2 (OR52H1) G C 235 rs1995157 Benign
52806 Q8NGJ2 (OR52H1) C R 242 rs1995158 Benign
52807 Q8NGJ2 (OR52H1) M T 283 rs7934354 Benign
52808 Q8NGJ4 (OR52E2) N S 5 rs16909440 Benign
52809 Q8NGJ4 (OR52E2) R W 167 rs11035396 Benign
52810 Q8NGJ4 (OR52E2) R C 264 rs2500052 Benign
52811 Q8NGJ5 (OR51L1) T I 196 rs10768448 Benign
52812 Q8NGJ5 (OR51L1) A V 207 rs10768450 Benign
52813 Q8NGJ6 (OR51A4) G C 45 rs3845246 Benign
52814 Q8NGJ6 (OR51A4) D N 72 rs2412467 Benign
52815 Q8NGJ6 (OR51A4) R G 267 rs2595988 Benign
52816 Q8NGJ6 (OR51A4) T M 288 rs2442426 Benign
52817 Q8NGJ6 (OR51A4) R W 311 rs2436782 Benign
52818 Q8NGJ7 (OR51A2) G C 45 rs28482315 Benign
52819 Q8NGJ7 (OR51A2) G E 59 rs112749434 Benign
52820 Q8NGJ7 (OR51A2) M T 288 rs2442426 Benign
52821 Q8NGJ7 (OR51A2) K N 289 rs2570573 Benign
52822 Q8NGJ8 (OR51S1) I N 57 rs12417164 Benign
52823 Q8NGJ8 (OR51S1) Q E 60 rs11602499 Benign
52824 Q8NGJ8 (OR51S1) L R 178 rs7117260 Benign
52825 Q8NGJ8 (OR51S1) L F 264 rs12361955 Benign
52826 Q8NGK0 (OR51G2) A E 94 rs16907312 Benign
52827 Q8NGK0 (OR51G2) E Q 96 rs12419598 Benign
52828 Q8NGK1 (OR51G1) S L 114 rs10836954 Benign
52829 Q8NGK1 (OR51G1) R H 124 rs34742470 Benign
52830 Q8NGK1 (OR51G1) Y S 125 rs1378739 Benign
52831 Q8NGK1 (OR51G1) I T 195 rs12796015 Benign
52832 Q8NGK1 (OR51G1) Q H 303 rs57920748 Benign
52833 Q8NGK2 (OR52B4) T I 139 rs11031961 Benign
52834 Q8NGK3 (OR52K2) R C 124 rs11032296 Benign
52835 Q8NGK3 (OR52K2) R H 236 rs331537 Benign
52836 Q8NGK3 (OR52K2) R C 302 rs7934336 Benign
52837 Q8NGK4 (OR52K1) Q R 52 rs96489 Benign
52838 Q8NGK4 (OR52K1) R W 153 rs331510 Benign
52839 Q8NGK5 (OR52M1) S L 9 rs7112010 Benign
52840 Q8NGK5 (OR52M1) S R 305 rs2657167 Benign
52841 Q8NGK6 (OR52I1) T I 41 rs2010722 Benign
52842 Q8NGK9 (OR5D16) A T 156 rs6591700 Benign
52843 Q8NGL0 (OR5L2) V M 59 rs56711116 Benign
52844 Q8NGL0 (OR5L2) M R 81 rs17148058 Benign
52845 Q8NGL1 (OR5D18) Y C 36 rs7948629 Benign
52846 Q8NGL1 (OR5D18) V M 118 rs11231180 Benign
52847 Q8NGL1 (OR5D18) N D 136 rs297081 Benign
52848 Q8NGL1 (OR5D18) H R 270 rs55832853 Benign
52849 Q8NGL2 (OR5L1) I F 46 rs2869020 Benign
52850 Q8NGL2 (OR5L1) R W 54 rs34961497 Benign
52851 Q8NGL2 (OR5L1) S P 287 rs12790505 Benign
52852 Q8NGL3 (OR5D14) S A 249 rs297054 Benign
52853 Q8NGL3 (OR5D14) L P 290 rs297055 Benign
52854 Q8NGL4 (OR5D13) C Y 62 rs297118 Benign
52855 Q8NGL4 (OR5D13) R H 124 rs11230983 Benign
52856 Q8NGL4 (OR5D13) R L 236 rs7124871 Benign
52857 Q8NGL6 (OR4A15) P S 26 rs1425193 Benign
52858 Q8NGL6 (OR4A15) A V 287 rs7927370 Benign
52859 Q8NGL9 (OR4C16) V L 25 rs12800642 Benign
52860 Q8NGL9 (OR4C16) T A 49 rs558465 Benign
52861 Q8NGL9 (OR4C16) T A 76 rs557590 Benign
52862 Q8NGL9 (OR4C16) A T 203 rs12288690 Benign
52863 Q8NGL9 (OR4C16) L P 259 rs559449 Benign
52864 Q8NGM8 (OR6M1) T K 276 rs4936845 Benign
52865 Q8NGM9 (OR8D4) L R 55 rs17127947 Benign
52866 Q8NGM9 (OR8D4) I V 92 rs17127950 Benign
52867 Q8NGM9 (OR8D4) C Y 120 rs10750250 Benign
52868 Q8NGM9 (OR8D4) R K 133 rs7926767 Benign
52869 Q8NGM9 (OR8D4) F L 200 rs10790610 Benign
52870 Q8NGM9 (OR8D4) F S 205 rs12270203 Benign
52871 Q8NGM9 (OR8D4) L P 283 rs7942047 Benign
52872 Q8NGM9 (OR8D4) R K 298 rs7927385 Benign
52873 Q8NGN1 (OR6T1) I T 23 rs6590022 Benign
52874 Q8NGN1 (OR6T1) R W 64 rs6590021 Benign
52875 Q8NGN1 (OR6T1) I V 251 rs7937317 Benign
52876 Q8NGN2 (OR10S1) G S 63 rs17759513 Benign
52877 Q8NGN2 (OR10S1) K R 93 rs17686210 Benign
52878 Q8NGN2 (OR10S1) A V 112 rs17759447 Benign
52879 Q8NGN3 (OR10G4) L P 24 rs547068 Benign
52880 Q8NGN3 (OR10G4) Y C 101 rs4474449 Benign
52881 Q8NGN3 (OR10G4) M V 134 rs1893766 Benign
52882 Q8NGN3 (OR10G4) G C 146 rs503223 Benign
52883 Q8NGN3 (OR10G4) G R 146 rs503223 Benign
52884 Q8NGN3 (OR10G4) G S 146 rs503223 Benign
52885 Q8NGN3 (OR10G4) P S 181 rs1893764 Benign
52886 Q8NGN3 (OR10G4) V E 195 rs4084209 Benign
52887 Q8NGN3 (OR10G4) R Q 226 rs11219408 Benign
52888 Q8NGN3 (OR10G4) R G 235 rs4936880 Benign
52889 Q8NGN3 (OR10G4) K Q 295 rs4936881 Benign
52890 Q8NGN4 (OR10G9) M V 134 rs12366219 Benign
52891 Q8NGN4 (OR10G9) S T 136 rs17128190 Benign
52892 Q8NGN4 (OR10G9) Q R 172 rs11219413 Benign
52893 Q8NGN4 (OR10G9) H R 228 rs12221656 Benign
52894 Q8NGN6 (OR10G7) T S 5 rs3894197 Benign
52895 Q8NGN6 (OR10G7) T M 13 rs11827843 Benign
52896 Q8NGN6 (OR10G7) A V 18 rs3894198 Benign
52897 Q8NGN6 (OR10G7) G A 20 rs3894199 Benign
52898 Q8NGN6 (OR10G7) I V 28 rs11219420 Benign
52899 Q8NGN6 (OR10G7) T A 90 rs470208 Benign
52900 Q8NGN6 (OR10G7) T S 136 rs513591 Benign
52901 Q8NGP0 (OR4C13) A V 2 rs28378220 Benign
52902 Q8NGP0 (OR4C13) V I 133 rs28662375 Benign
52903 Q8NGP2 (OR8J1) G V 36 rs7927015 Benign
52904 Q8NGP2 (OR8J1) M L 114 rs7942730 Benign
52905 Q8NGP2 (OR8J1) Y C 120 rs10896290 Benign
52906 Q8NGP3 (OR5M9) K R 270 rs1945237 Benign
52907 Q8NGP4 (OR5M3) L F 84 rs605734 Benign
52908 Q8NGP4 (OR5M3) G S 163 rs17150664 Benign
52909 Q8NGP8 (OR5M1) S T 282 rs4939078 Benign
52910 Q8NGP9 (OR5AR1) I V 225 rs56067375 Benign
52911 Q8NGQ1 (OR9G4) F S 43 rs11228763 Benign
52912 Q8NGQ1 (OR9G4) N D 206 rs577576 Benign
52913 Q8NGQ1 (OR9G4) V A 222 rs513873 Benign
52914 Q8NGQ2 (OR6Q1) G A 316 rs1374570 Benign
52915 Q8NGQ3 (OR1S2) I T 59 rs11229281 Benign
52916 Q8NGQ3 (OR1S2) V A 225 rs11229277 Benign
52917 Q8NGQ3 (OR1S2) V I 225 rs11229278 Benign
52918 Q8NGQ4 (OR10Q1) E D 12 rs4245219 Benign
52919 Q8NGQ4 (OR10Q1) R C 191 rs11229301 Benign
52920 Q8NGQ5 (OR9Q1) R L 159 rs12420738 Benign
52921 Q8NGR2 (OR1L6) Q K 59 rs10760252 Benign
52922 Q8NGR2 (OR1L6) C Y 186 rs4838012 Benign
52923 Q8NGR2 (OR1L6) I T 251 rs10985760 Benign
52924 Q8NGR2 (OR1L6) M I 259 rs10818741 Benign
52925 Q8NGR3 (OR1K1) W R 271 rs7046603 Benign
52926 Q8NGR5 (OR1L4) G R 234 rs2215530 Benign
52927 Q8NGR5 (OR1L4) Y H 310 rs12341025 Benign
52928 Q8NGR6 (OR1B1) L S 149 rs1536929 Benign
52929 Q8NGR6 (OR1B1) A T 230 rs1476859 Benign
52930 Q8NGR6 (OR1B1) C W 263 rs1476858 Benign
52931 Q8NGR6 (OR1B1) V G 314 rs1556189 Benign
52932 Q8NGR8 (OR1L8) T P 27 rs10985704 Benign
52933 Q8NGR8 (OR1L8) R P 211 rs10739614 Benign
52934 Q8NGR9 (OR1N2) W R 37 rs1831370 Benign
52935 Q8NGR9 (OR1N2) R C 237 rs41316976 Benign
52936 Q8NGR9 (OR1N2) V G 244 rs1341044 Benign
52937 Q8NGR9 (OR1N2) T M 301 rs1411272 Benign
52938 Q8NGS0 (OR1N1) P S 18 rs10818708 Benign
52939 Q8NGS0 (OR1N1) R Q 227 rs58226717 Benign
52940 Q8NGS2 (OR1J2) A T 119 rs41277120 Benign
52941 Q8NGS2 (OR1J2) R Q 165 rs4836891 Benign
52942 Q8NGS3 (OR1J1) N S 318 rs1962091 Benign
52943 Q8NGS4 (OR13F1) F S 18 rs7049042 Benign
52944 Q8NGS4 (OR13F1) F S 94 rs7018553 Benign
52945 Q8NGS4 (OR13F1) M V 101 rs1403812 Benign
52946 Q8NGS4 (OR13F1) V I 134 rs1403811 Benign
52947 Q8NGS4 (OR13F1) T M 254 rs7030820 Benign
52948 Q8NGS4 (OR13F1) I T 270 rs7847413 Benign
52949 Q8NGS6 (OR13C3) K T 293 rs10512330 Benign
52950 Q8NGS7 (OR13C8) A D 19 rs7026705 Benign
52951 Q8NGS8 (OR13C5) S F 18 rs1851722 Benign
52952 Q8NGS8 (OR13C5) F L 32 rs6479260 Benign
52953 Q8NGS8 (OR13C5) L M 69 rs7042502 Benign
52954 Q8NGS8 (OR13C5) L V 86 rs4629933 Benign
52955 Q8NGS8 (OR13C5) V M 117 rs2417534 Benign
52956 Q8NGS8 (OR13C5) C Y 189 rs4117966 Benign
52957 Q8NGS8 (OR13C5) N S 195 rs6479259 Benign
52958 Q8NGS8 (OR13C5) M T 258 rs1851724 Benign
52959 Q8NGS8 (OR13C5) I V 282 rs1523678 Benign
52960 Q8NGS8 (OR13C5) M T 290 rs1851725 Benign
52961 Q8NGS9 (OR13C2) S T 160 rs1851716 Benign
52962 Q8NGS9 (OR13C2) K E 301 rs10156474 Benign
52963 Q8NGT0 (OR13C9) E D 24 rs2900373 Benign
52964 Q8NGT0 (OR13C9) T S 91 rs993658 Benign
52965 Q8NGT0 (OR13C9) F L 197 rs10761054 Benign
52966 Q8NGT2 (OR13J1) H R 133 rs7044405 Benign
52967 Q8NGT5 (OR9A2) R H 53 rs9885986 Benign
52968 Q8NGT7 (OR2A12) A T 223 rs9655672 Benign
52969 Q8NGV0 (OR2Y1) R C 128 rs11960429 Benign
52970 Q8NGV0 (OR2Y1) V M 154 rs11954074 Benign
52971 Q8NGV0 (OR2Y1) V L 200 rs10464105 Benign
52972 Q8NGV5 (OR13D1) F L 21 rs10991359 Benign
52973 Q8NGV5 (OR13D1) L V 64 rs13294411 Benign
52974 Q8NGV5 (OR13D1) Q H 191 rs10820709 Benign
52975 Q8NGV5 (OR13D1) S L 277 rs10761073 Benign
52976 Q8NGV6 (OR5H6) A E 46 rs4241472 Benign
52977 Q8NGV6 (OR5H6) S L 88 rs2173236 Benign
52978 Q8NGV6 (OR5H6) S W 88 rs2173236 Benign
52979 Q8NGV6 (OR5H6) A P 145 rs9289564 Benign
52980 Q8NGV6 (OR5H6) S L 179 rs16846784 Benign
52981 Q8NGV6 (OR5H6) C R 195 rs9853887 Benign
52982 Q8NGV6 (OR5H6) T A 272 rs9853906 Benign
52983 Q8NGV6 (OR5H6) D N 285 rs9871143 Benign
52984 Q8NGV7 (OR5H2) I V 230 rs16839214 Benign
52985 Q8NGV7 (OR5H2) R C 266 rs17787561 Benign
52986 Q8NGV7 (OR5H2) I V 286 rs16839611 Benign
52987 Q8NGW1 (OR6B3) C Y 234 rs12465491 Benign
52988 Q8NGW6 (OR6K6) E D 39 rs16840974 Benign
52989 Q8NGW6 (OR6K6) H Y 49 rs16840976 Benign
52990 Q8NGW6 (OR6K6) G D 80 rs16840980 Benign
52991 Q8NGW6 (OR6K6) S L 134 rs16840991 Benign
52992 Q8NGW6 (OR6K6) R C 159 rs16841001 Benign
52993 Q8NGW6 (OR6K6) C R 197 rs16841009 Benign
52994 Q8NGW6 (OR6K6) P L 211 rs16841017 Benign
52995 Q8NGW6 (OR6K6) R Q 247 rs16841038 Benign
52996 Q8NGW6 (OR6K6) H R 261 rs16841042 Benign
52997 Q8NGW6 (OR6K6) K R 320 rs16841045 Benign
52998 Q8NGX0 (OR11L1) G S 108 rs10888257 Benign
52999 Q8NGX0 (OR11L1) F L 117 rs540891010 Benign
53000 Q8NGX0 (OR11L1) A T 142 rs10888256 Benign
53001 Q8NGX0 (OR11L1) R P 171 rs10888255 Benign
53002 Q8NGX1 (OR2T34) R P 267 rs1770107 Benign
53003 Q8NGX3 (OR10T2) V A 16 rs6660222 Benign
53004 Q8NGX3 (OR10T2) F L 65 rs41488350 Benign
53005 Q8NGX3 (OR10T2) I V 78 rs6662597 Benign
53006 Q8NGX3 (OR10T2) I M 137 rs6662382 Benign
53007 Q8NGX3 (OR10T2) F L 155 rs12062580 Benign
53008 Q8NGX3 (OR10T2) K N 312 rs6692949 Benign
53009 Q8NGX6 (OR10R2) A T 191 rs3820678 Benign
53010 Q8NGX6 (OR10R2) E G 216 rs6679056 Benign
53011 Q8NGX6 (OR10R2) L F 239 rs1418843 Benign
53012 Q8NGX8 (OR6Y1) T I 104 rs55665765 Benign
53013 Q8NGY0 (OR10X1) I T 60 rs863363 Benign
53014 Q8NGY0 (OR10X1) A S 81 rs950164 Benign
53015 Q8NGY0 (OR10X1) S P 172 rs7550131 Benign
53016 Q8NGY0 (OR10X1) F L 180 rs16840360 Benign
53017 Q8NGY1 (OR10Z1) N T 294 rs857685 Benign
53018 Q8NGY2 (OR6K2) R Q 6 rs413029 Benign
53019 Q8NGY2 (OR6K2) L V 156 rs423141 Benign
53020 Q8NGY2 (OR6K2) I F 159 rs6686179 Benign
53021 Q8NGY3 (OR6K3) G R 20 rs857705 Benign
53022 Q8NGY3 (OR6K3) Q H 159 rs857704 Benign
53023 Q8NGY3 (OR6K3) V M 216 rs151330882 Benign
53024 Q8NGY3 (OR6K3) P S 244 rs857703 Benign
53025 Q8NGY3 (OR6K3) P L 264 rs28568406 Benign
53026 Q8NGY3 (OR6K3) D N 279 rs857702 Benign
53027 Q8NGY3 (OR6K3) R K 308 rs16840675 Benign
53028 Q8NGY5 (OR6N1) A T 10 rs1864346 Benign
53029 Q8NGY5 (OR6N1) I T 194 rs857827 Benign
53030 Q8NGY5 (OR6N1) F L 245 rs857826 Benign
53031 Q8NGY5 (OR6N1) Q R 261 rs857825 Benign
53032 Q8NGY5 (OR6N1) R H 293 rs857824 Benign
53033 Q8NGY6 (OR6N2) A V 204 rs12027473 Benign
53034 Q8NGY6 (OR6N2) I V 250 rs41273541 Benign
53035 Q8NGY9 (OR2L8) G C 196 rs4925788 Benign
53036 Q8NGY9 (OR2L8) A T 202 rs4925790 Benign
53037 Q8NGY9 (OR2L8) Y C 217 rs4925583 Benign
53038 Q8NGY9 (OR2L8) H R 226 rs4925792 Benign
53039 Q8NGY9 (OR2L8) K R 294 rs10888282 Benign
53040 Q8NGY9 (OR2L8) T K 301 rs74155337 Benign
53041 Q8NGZ3 (OR13G1) K I 46 rs28711149 Benign
53042 Q8NGZ3 (OR13G1) I V 132 rs1151640 Benign
53043 Q8NGZ3 (OR13G1) M L 146 rs28556931 Benign
53044 Q8NGZ3 (OR13G1) R C 224 rs28446289 Benign
53045 Q8NGZ4 (OR2G3) L S 164 rs6658792 Benign
53046 Q8NGZ4 (OR2G3) V M 258 rs12072304 Benign
53047 Q8NGZ5 (OR2G2) P A 24 rs12737801 Benign
53048 Q8NGZ5 (OR2G2) V L 120 rs1151687 Benign
53049 Q8NGZ5 (OR2G2) L P 167 rs10925085 Benign
53050 Q8NGZ5 (OR2G2) R G 236 rs869111 Benign
53051 Q8NGZ6 (OR6F1) L P 13 rs60303431 Benign
53052 Q8NGZ6 (OR6F1) P A 159 rs6665599 Benign
53053 Q8NGZ6 (OR6F1) F L 215 rs2282316 Benign
53054 Q8NH00 (OR2T4) N S 31 rs57795102 Benign
53055 Q8NH01 (OR2T11) C R 119 rs1892443 Benign
53056 Q8NH01 (OR2T11) Q R 309 rs1892442 Benign
53057 Q8NH03 (OR2T3) M T 204 rs1770110 Benign
53058 Q8NH04 (OR2T27) L V 36 rs1782242 Benign
53059 Q8NH04 (OR2T27) K M 45 rs28533004 Benign
53060 Q8NH05 (OR4Q3) T A 135 rs17210864 Benign
53061 Q8NH05 (OR4Q3) F L 238 rs12896533 Benign
53062 Q8NH09 (OR8S1) M V 48 rs2731073 Benign
53063 Q8NH09 (OR8S1) L P 82 rs4075258 Benign
53064 Q8NH09 (OR8S1) R C 128 rs12425460 Benign
53065 Q8NH10 (OR8U1) H R 20 rs11228166 Benign
53066 Q8NH10 (OR8U1) I V 109 rs12788990 Benign
53067 Q8NH10 (OR8U1) S C 112 rs10791961 Benign
53068 Q8NH10 (OR8U1) T S 137 rs10791962 Benign
53069 Q8NH10 (OR8U1) R C 165 rs17150411 Benign
53070 Q8NH10 (OR8U1) M I 206 rs10896310 Benign
53071 Q8NH10 (OR8U1) M T 206 rs10896309 Benign
53072 Q8NH10 (OR8U1) L V 288 rs1573509 Benign
53073 Q8NH10 (OR8U1) Q R 293 rs12272403 Benign
53074 Q8NH16 (OR2L2) F L 249 rs12134979 Benign
53075 Q8NH16 (OR2L2) V L 259 rs6658141 Benign
53076 Q8NH18 (OR5J2) M I 136 rs12279899 Benign
53077 Q8NH40 (OR6S1) T I 42 rs11622794 Benign
53078 Q8NH40 (OR6S1) V I 156 rs11622969 Benign
53079 Q8NH40 (OR6S1) R H 237 rs17277522 Benign
53080 Q8NH40 (OR6S1) R C 296 rs17114309 Benign
53081 Q8NH41 (OR4K15) N S 89 rs4060024 Benign
53082 Q8NH41 (OR4K15) E V 112 rs3861512 Benign
53083 Q8NH41 (OR4K15) S A 117 rs3861513 Benign
53084 Q8NH41 (OR4K15) A E 255 rs10135246 Benign
53085 Q8NH41 (OR4K15) L P 304 rs2153466 Benign
53086 Q8NH41 (OR4K15) I M 310 rs10135467 Benign
53087 Q8NH42 (OR4K13) Q K 292 rs17277025 Benign
53088 Q8NH43 (OR4L1) D N 2 rs1958715 Benign
53089 Q8NH43 (OR4L1) G V 16 rs45584133 Benign
53090 Q8NH43 (OR4L1) M V 40 rs1958716 Benign
53091 Q8NH43 (OR4L1) R S 52 rs1959630 Benign
53092 Q8NH43 (OR4L1) S F 93 rs10139756 Benign
53093 Q8NH43 (OR4L1) M K 101 rs2775253 Benign
53094 Q8NH43 (OR4L1) G S 109 rs2775254 Benign
53095 Q8NH43 (OR4L1) I T 160 rs45585336 Benign
53096 Q8NH48 (OR5B3) P L 30 rs17152661 Benign
53097 Q8NH48 (OR5B3) I F 35 rs17152659 Benign
53098 Q8NH48 (OR5B3) W R 49 rs11229413 Benign
53099 Q8NH48 (OR5B3) N S 170 rs12280114 Benign
53100 Q8NH48 (OR5B3) A T 181 rs11229411 Benign
53101 Q8NH48 (OR5B3) I V 198 rs11229410 Benign
53102 Q8NH48 (OR5B3) G A 247 rs11229409 Benign
53103 Q8NH48 (OR5B3) K R 296 rs12279895 Benign
53104 Q8NH49 (OR4X1) R G 144 rs1503193 Benign
53105 Q8NH49 (OR4X1) P L 165 rs16905753 Benign
53106 Q8NH49 (OR4X1) L Q 196 rs12798361 Benign
53107 Q8NH49 (OR4X1) D N 246 rs17199104 Benign
53108 Q8NH49 (OR4X1) P S 282 rs10838852 Benign
53109 Q8NH50 (OR8K5) F S 68 rs2512938 Benign
53110 Q8NH51 (OR8K3) L R 122 rs960193 Benign
53111 Q8NH51 (OR8K3) V I 173 rs12291617 Benign
53112 Q8NH51 (OR8K3) I M 275 rs17150317 Benign
53113 Q8NH53 (OR52N1) T N 79 rs12365487 Benign
53114 Q8NH53 (OR52N1) A T 101 rs10742787 Benign
53115 Q8NH53 (OR52N1) C Y 125 rs10769224 Benign
53116 Q8NH53 (OR52N1) R C 167 rs7948009 Benign
53117 Q8NH53 (OR52N1) F I 247 rs7934670 Benign
53118 Q8NH54 (OR56A3) M T 51 rs1840178 Benign
53119 Q8NH55 (OR52E5) I T 165 rs17234326 Benign
53120 Q8NH55 (OR52E5) D G 209 rs16926732 Benign
53121 Q8NH55 (OR52E5) P L 234 rs7106300 Benign
53122 Q8NH56 (OR52N5) V I 133 rs12360738 Benign
53123 Q8NH59 (OR51Q1) T I 146 rs10838092 Benign
53124 Q8NH59 (OR51Q1) C R 153 rs10838093 Benign
53125 Q8NH59 (OR51Q1) V I 155 rs10838094 Benign
53126 Q8NH59 (OR51Q1) R H 178 rs10838095 Benign
53127 Q8NH59 (OR51Q1) V M 211 rs2736586 Benign
53128 Q8NH59 (OR51Q1) F S 308 rs2647573 Benign
53129 Q8NH60 (OR52J3) T A 77 rs2500016 Benign
53130 Q8NH60 (OR52J3) V I 128 rs2500017 Benign
53131 Q8NH60 (OR52J3) Q L 141 rs2500018 Benign
53132 Q8NH60 (OR52J3) V I 226 rs17350764 Benign
53133 Q8NH64 (OR51A7) E K 8 rs11034596 Benign
53134 Q8NH64 (OR51A7) M T 81 rs7108225 Benign
53135 Q8NH64 (OR51A7) V A 196 rs7108654 Benign
53136 Q8NH67 (OR52I2) L P 25 rs7128702 Benign
53137 Q8NH67 (OR52I2) I L 74 rs12793957 Benign
53138 Q8NH67 (OR52I2) T M 167 rs1847632 Benign
53139 Q8NH67 (OR52I2) I V 178 rs7947426 Benign
53140 Q8NH67 (OR52I2) I V 183 rs7947432 Benign
53141 Q8NH69 (OR5W2) F L 39 rs17511797 Benign
53142 Q8NH69 (OR5W2) H R 65 rs12419022 Benign
53143 Q8NH69 (OR5W2) M T 160 rs17596519 Benign
53144 Q8NH69 (OR5W2) A P 163 rs17148883 Benign
53145 Q8NH69 (OR5W2) R C 189 rs2457239 Benign
53146 Q8NH69 (OR5W2) F L 215 rs17596422 Benign
53147 Q8NH69 (OR5W2) F Y 310 rs34573569 Benign
53148 Q8NH70 (OR4A16) L I 188 rs11229158 Benign
53149 Q8NH70 (OR4A16) H R 232 rs12807769 Benign
53150 Q8NH70 (OR4A16) K M 303 rs10896659 Benign
53151 Q8NH72 (OR4C6) I T 133 rs11230600 Benign
53152 Q8NH73 (OR4S2) S T 72 rs17146960 Benign
53153 Q8NH73 (OR4S2) V G 195 rs7949664 Benign
53154 Q8NH74 (OR10A6) A V 117 rs7928451 Benign
53155 Q8NH74 (OR10A6) V G 140 rs7933807 Benign
53156 Q8NH74 (OR10A6) L P 287 rs4758258 Benign
53157 Q8NH76 (OR56B4) P S 277 rs1462983 Benign
53158 Q8NH79 (OR6X1) T N 190 rs12364099 Benign
53159 Q8NH83 (OR4A5) N S 6 rs10902343 Benign
53160 Q8NH83 (OR4A5) K N 23 rs56302591 Benign
53161 Q8NH83 (OR4A5) L Q 219 rs35083184 Benign
53162 Q8NH85 (OR5R1) I T 7 rs7931261 Benign
53163 Q8NH85 (OR5R1) C Y 103 rs7123108 Benign
53164 Q8NH85 (OR5R1) D G 121 rs7111634 Benign
53165 Q8NH85 (OR5R1) C R 122 rs6591324 Benign
53166 Q8NH85 (OR5R1) S G 128 rs7933772 Benign
53167 Q8NH85 (OR5R1) Y H 132 rs17150578 Benign
53168 Q8NH85 (OR5R1) I T 162 rs12785840 Benign
53169 Q8NH85 (OR5R1) F L 184 rs7930678 Benign
53170 Q8NH85 (OR5R1) A V 274 rs998544 Benign
53171 Q8NH87 (OR9G1) C R 53 rs532637 Benign
53172 Q8NH87 (OR9G1) C Y 53 rs532635 Benign
53173 Q8NH87 (OR9G1) F V 61 rs3975155 Benign
53174 Q8NH87 (OR9G1) T I 62 rs2865520 Benign
53175 Q8NH87 (OR9G1) T I 83 rs602224 Benign
53176 Q8NH87 (OR9G1) C G 98 rs11228732 Benign
53177 Q8NH87 (OR9G1) Y C 112 rs4990194 Benign
53178 Q8NH87 (OR9G1) V M 117 rs591369 Benign
53179 Q8NH87 (OR9G1) R C 169 rs11228733 Benign
53180 Q8NH87 (OR9G1) E K 185 rs11228735 Benign
53181 Q8NH87 (OR9G1) K Q 231 rs12420076 Benign
53182 Q8NH87 (OR9G1) Y C 233 rs10896517 Benign
53183 Q8NH87 (OR9G1) Y H 233 rs10896516 Benign
53184 Q8NH87 (OR9G1) A S 259 rs7121276 Benign
53185 Q8NH90 (OR5AK2) G V 4 rs10896563 Benign
53186 Q8NH90 (OR5AK2) S T 43 rs12420424 Benign
53187 Q8NH90 (OR5AK2) M I 92 rs2853083 Benign
53188 Q8NH92 (OR1S1) S G 5 rs1966836 Benign
53189 Q8NH92 (OR1S1) I T 123 rs1966835 Benign
53190 Q8NH92 (OR1S1) H R 135 rs1966834 Benign
53191 Q8NH92 (OR1S1) N D 183 rs1993088 Benign
53192 Q8NH92 (OR1S1) L M 206 rs2867400 Benign
53193 Q8NH92 (OR1S1) S I 227 rs2903566 Benign
53194 Q8NH93 (OR1L3) R G 54 rs12379744 Benign
53195 Q8NH93 (OR1L3) V A 106 rs16912096 Benign
53196 Q8NH93 (OR1L3) N D 121 rs16912099 Benign
53197 Q8NH94 (OR1L1) S G 145 rs70157 Benign
53198 Q8NH94 (OR1L1) T A 149 rs16912055 Benign
53199 Q8NH94 (OR1L1) L V 308 rs237620 Benign
53200 Q8NH94 (OR1L1) G R 349 rs16912062 Benign
53201 Q8NHA4 (OR2AE1) I T 77 rs2572023 Benign
53202 Q8NHA4 (OR2AE1) Y C 217 rs60737583 Benign
53203 Q8NHA4 (OR2AE1) L V 267 rs17161997 Benign
53204 Q8NHC4 (OR10J5) R W 233 rs35393723 Benign
53205 Q8NHC5 (OR14A16) I T 238 rs6695283 Benign
53206 Q8NHC7 (OR14C36) Q R 141 rs28448343 Benign
53207 Q8NHC7 (OR14C36) G R 225 rs28377739 Benign
53208 Q8NHC7 (OR14C36) D Y 231 rs28545014 Benign
53209 Q8NHC8 (OR2T6) N D 21 rs7417616 Benign
53210 Q8NHC8 (OR2T6) C G 23 rs6587467 Benign
53211 Q8NHC8 (OR2T6) T N 57 rs6693032 Benign
53212 Q8NHC8 (OR2T6) L P 159 rs6701129 Benign
53213 Q8NHC8 (OR2T6) S A 243 rs954475 Benign
53214 Q8NHH9 (ATL2) W R 18 rs3731847 Benign
53215 Q8NHH9 (ATL2) N S 272 rs34873284 Benign
53216 Q8NHH9 (ATL2) D H 420 rs7582826 Benign
53217 Q8NHJ6 (LILRB4) F L 5 rs28366008 Benign
53218 Q8NHJ6 (LILRB4) R S 18 rs11540761 Benign
53219 Q8NHJ6 (LILRB4) H D 20 rs11540762 Benign
53220 Q8NHJ6 (LILRB4) D G 223 rs731170 Benign
53221 Q8NHJ6 (LILRB4) C Y 330 rs11574575 Benign
53222 Q8NHJ6 (LILRB4) N D 335 rs11574576 Benign
53223 Q8NHJ6 (LILRB4) K E 362 rs2764337 Benign
53224 Q8NHJ6 (LILRB4) K T 362 rs11574589 Benign
53225 Q8NHJ6 (LILRB4) Q R 414 rs1048801 Benign
53226 Q8NHK3 (KIR2DL5B) V I 6 - Benign
53227 Q8NHK3 (KIR2DL5B) T A 141 - Benign
53228 Q8NHK3 (KIR2DL5B) E G 276 - Benign
53229 Q8NHL6 (LILRB1) L P 68 rs1061679 Benign
53230 Q8NHL6 (LILRB1) A T 93 rs12460501 Benign
53231 Q8NHL6 (LILRB1) I T 142 rs1061680 Benign
53232 Q8NHL6 (LILRB1) S I 155 rs1061681 Benign
53233 Q8NHL6 (LILRB1) H Y 301 rs1045818 Benign
53234 Q8NHL6 (LILRB1) L V 459 rs1138737 Benign
53235 Q8NHL6 (LILRB1) L F 620 rs634222 Benign
53236 Q8NHL6 (LILRB1) E K 625 rs16985478 Benign
53237 Q8NHP1 (AKR7L) A T 255 rs2235795 Benign
53238 Q8NHP1 (AKR7L) F V 322 rs2982534 Benign
53239 Q8NHP6 (MOSPD2) S N 240 rs35164803 Benign
53240 Q8NHP7 (EXD1) T A 489 rs522063 Benign
53241 Q8NHP8 (PLBD2) Q P 54 rs7965471 Benign
53242 Q8NHP8 (PLBD2) R C 524 rs12425042 Benign
53243 Q8NHQ1 (CEP70) S N 135 rs1673607 Benign
53244 Q8NHQ1 (CEP70) N S 537 rs35340237 Benign
53245 Q8NHQ9 (DDX55) V L 101 rs17881657 Benign
53246 Q8NHQ9 (DDX55) E G 154 rs17886035 Benign
53247 Q8NHQ9 (DDX55) N S 264 rs11057306 Benign
53248 Q8NHQ9 (DDX55) N S 556 rs10773019 Benign
53249 Q8NHR7 (TERB2) P R 31 rs11638723 Benign
53250 Q8NHR7 (TERB2) S R 103 - Benign
53251 Q8NHR7 (TERB2) H N 190 rs1248475666 Benign
53252 Q8NHS0 (DNAJB8) M L 153 rs35948511 Benign
53253 Q8NHS3 (MFSD8) G R 52 rs779838200 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53254 Q8NHS3 (MFSD8) V G 109 rs11732377 Benign
53255 Q8NHS3 (MFSD8) Y C 121 rs118203978 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53256 Q8NHS3 (MFSD8) R H 139 rs749704755 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53257 Q8NHS3 (MFSD8) A P 157 - Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53258 Q8NHS3 (MFSD8) T I 160 rs1162750836 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53259 Q8NHS3 (MFSD8) T N 160 - Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53260 Q8NHS3 (MFSD8) T K 294 rs140948465 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53261 Q8NHS3 (MFSD8) G D 310 rs118203975 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53262 Q8NHS3 (MFSD8) E Q 336 rs150418024 Disease: Macular dystrophy with central cone involvement (CCMD) [MIM:616170]
53263 Q8NHS3 (MFSD8) G R 385 rs11098943 Benign
53264 Q8NHS3 (MFSD8) P L 412 rs267607235 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53265 Q8NHS3 (MFSD8) A V 423 rs3733319 Benign
53266 Q8NHS3 (MFSD8) G D 429 rs118203976 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53267 Q8NHS3 (MFSD8) P L 447 - Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53268 Q8NHS3 (MFSD8) T K 458 - Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53269 Q8NHS3 (MFSD8) R Q 465 rs1275962600 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53270 Q8NHS3 (MFSD8) R W 465 rs1043984708 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53271 Q8NHS3 (MFSD8) M V 470 rs764549054 Disease: Ceroid lipofuscinos is, neuronal, 7 (CLN7) [MIM:610951]
53272 Q8NHS4 (CLHC1) A V 178 rs9677948 Benign
53273 Q8NHS4 (CLHC1) V I 426 rs6716066 Benign
53274 Q8NHS4 (CLHC1) A V 503 rs14026 Benign
53275 Q8NHS4 (CLHC1) D Y 552 rs3186099 Benign
53276 Q8NHS9 (SPATA22) R T 112 rs2291604 Benign
53277 Q8NHS9 (SPATA22) V M 148 rs1488690 Benign
53278 Q8NHS9 (SPATA22) Q R 155 rs11556563 Benign
53279 Q8NHS9 (SPATA22) I T 160 rs1488689 Benign
53280 Q8NHU0 (CT45A3) E A 55 rs200277856 Benign
53281 Q8NHU2 (CFAP61) P R 74 rs17852602 Benign
53282 Q8NHU2 (CFAP61) H R 254 rs6075614 Benign
53283 Q8NHU2 (CFAP61) V I 369 rs6081901 Benign
53284 Q8NHU2 (CFAP61) P L 371 rs6075628 Benign
53285 Q8NHU2 (CFAP61) D E 505 rs7344530 Benign
53286 Q8NHU2 (CFAP61) P L 660 rs6081930 Benign
53287 Q8NHU2 (CFAP61) V I 671 rs6046740 Benign
53288 Q8NHU2 (CFAP61) T P 790 - Benign
53289 Q8NHU3 (SGMS2) T M 21 rs17038204 Benign
53290 Q8NHU6 (TDRD7) V A 150 rs2045732 Benign
53291 Q8NHU6 (TDRD7) P L 456 rs17852595 Benign
53292 Q8NHV1 (GIMAP7) R C 83 rs3735080 Benign
53293 Q8NHV9 (RHOXF1) D H 177 rs138060880 Benign
53294 Q8NHW3 (MAFA) S F 64 rs1554635488 Disease: Insulinomato sis and diabetes mellitus (INSDM) [MIM:147630]
53295 Q8NHW6 (OTOS) P L 7 rs35889242 Benign
53296 Q8NHX9 (TPCN2) K R 376 rs3750965 Benign
53297 Q8NHX9 (TPCN2) M L 484 rs35264875 Benign
53298 Q8NHX9 (TPCN2) L P 564 rs2376558 Benign
53299 Q8NHX9 (TPCN2) G E 734 rs3829241 Benign
53300 Q8NHY0 (B4GALNT2) A D 40 rs7207403 Benign
53301 Q8NHY0 (B4GALNT2) C R 466 rs7224888 Benign
53302 Q8NHY3 (GAS2L2) A V 164 rs11654604 Benign
53303 Q8NHY3 (GAS2L2) A T 540 rs12602590 Benign
53304 Q8NHY3 (GAS2L2) A V 654 rs3744374 Benign
53305 Q8NHY3 (GAS2L2) R W 829 rs56386706 Benign
53306 Q8NHY5 (HUS1B) H Q 130 rs1766848 Benign
53307 Q8NHY5 (HUS1B) Q R 201 rs17136239 Benign
53308 Q8NHY5 (HUS1B) D Y 268 rs1211554 Benign
53309 Q8NHY6 (ZFP28) S W 141 rs34136271 Benign
53310 Q8NHY6 (ZFP28) A V 620 rs10409531 Benign
53311 Q8NI08 (NCOA7) S A 399 rs6919947 Benign
53312 Q8NI08 (NCOA7) G R 533 rs35223550 Benign
53313 Q8NI08 (NCOA7) D E 942 rs1567 Benign
53314 Q8NI17 (IL31RA) D N 155 rs13184107 Benign
53315 Q8NI17 (IL31RA) S F 489 - Disease: Amyloidosis, primary localized cutaneous, 2 (PLCA2) [MIM:613955]
53316 Q8NI17 (IL31RA) S N 497 rs161704 Benign
53317 Q8NI22 (MCFD2) D H 81 rs78289603 Disease: Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]
53318 Q8NI22 (MCFD2) D E 129 rs137852913 Disease: Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]
53319 Q8NI22 (MCFD2) Y N 135 rs748641905 Disease: Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]
53320 Q8NI22 (MCFD2) I T 136 rs137852914 Disease: Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]
53321 Q8NI27 (THOC2) L F 313 rs797045019 Disease: Mental retardation, X-linked 12 (MRX12) [MIM:300957]
53322 Q8NI27 (THOC2) L P 438 rs797045018 Disease: Mental retardation, X-linked 12 (MRX12) [MIM:300957]
53323 Q8NI27 (THOC2) I T 800 rs797045021 Disease: Mental retardation, X-linked 12 (MRX12) [MIM:300957]
53324 Q8NI27 (THOC2) S P 1012 rs797045020 Disease: Mental retardation, X-linked 12 (MRX12) [MIM:300957]
53325 Q8NI35 (PATJ) G R 303 rs3762321 Benign
53326 Q8NI35 (PATJ) E A 362 rs1286823 Benign
53327 Q8NI35 (PATJ) I V 400 rs7516332 Benign
53328 Q8NI35 (PATJ) Q H 599 rs1286812 Benign
53329 Q8NI35 (PATJ) C R 744 rs1134764 Benign
53330 Q8NI35 (PATJ) E K 779 rs12141598 Benign
53331 Q8NI35 (PATJ) E K 780 rs12141599 Benign
53332 Q8NI35 (PATJ) I M 870 rs2799627 Benign
53333 Q8NI35 (PATJ) G S 1178 rs1056513 Benign
53334 Q8NI35 (PATJ) R H 1282 rs1134767 Benign
53335 Q8NI35 (PATJ) V L 1360 rs2498982 Benign
53336 Q8NI35 (PATJ) A P 1504 rs13376115 Benign
53337 Q8NI36 (WDR36) L P 25 rs145437203 Benign
53338 Q8NI36 (WDR36) P T 31 rs148041801 Benign
53339 Q8NI36 (WDR36) D E 33 rs35629723 Benign
53340 Q8NI36 (WDR36) A V 163 rs62376783 Benign
53341 Q8NI36 (WDR36) H P 212 rs142088179 Benign
53342 Q8NI36 (WDR36) I V 264 rs11241095 Benign
53343 Q8NI36 (WDR36) N S 355 rs118204022 Disease: Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
53344 Q8NI36 (WDR36) A T 449 rs35703638 Benign
53345 Q8NI36 (WDR36) E Q 454 rs17623803 Benign
53346 Q8NI36 (WDR36) R Q 529 rs116529882 Disease: Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
53347 Q8NI36 (WDR36) D G 658 rs34595252 Benign
53348 Q8NI36 (WDR36) M V 671 rs11956837 Benign
53349 Q8NI38 (NFKBID) V A 29 rs8113704 Benign
53350 Q8NI51 (CTCFL) E Q 50 rs6070128 Benign
53351 Q8NI51 (CTCFL) T A 177 rs6025606 Benign
53352 Q8NI51 (CTCFL) R H 448 rs6092491 Benign
53353 Q8NI51 (CTCFL) Q E 525 rs6070122 Benign
53354 Q8NI60 (COQ8A) H Q 85 rs2297411 Benign
53355 Q8NI60 (COQ8A) R W 213 rs119468005 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53356 Q8NI60 (COQ8A) R C 271 rs145034527 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53357 Q8NI60 (COQ8A) G D 272 rs119468006 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53358 Q8NI60 (COQ8A) G V 272 rs119468006 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53359 Q8NI60 (COQ8A) R W 299 rs201908721 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53360 Q8NI60 (COQ8A) A T 304 rs778798354 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53361 Q8NI60 (COQ8A) A V 304 rs748118737 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53362 Q8NI60 (COQ8A) I T 341 rs55798516 Benign
53363 Q8NI60 (COQ8A) Y C 429 rs144147839 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53364 Q8NI60 (COQ8A) Y C 514 rs119468008 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53365 Q8NI60 (COQ8A) G S 549 rs119468009 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53366 Q8NI60 (COQ8A) E K 551 rs119468004 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53367 Q8NI60 (COQ8A) P R 602 rs61995958 Disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
53368 Q8NI77 (KIF18A) T A 273 rs12272419 Benign
53369 Q8NI77 (KIF18A) P S 334 rs34913484 Benign
53370 Q8NI77 (KIF18A) I V 735 rs10458896 Benign
53371 Q8TA86 (RP9) H L 137 rs104894037 Disease: Retinitis pigmentosa 9 (RP9) [MIM:180104]
53372 Q8TA86 (RP9) D G 170 rs104894039 Disease: Retinitis pigmentosa 9 (RP9) [MIM:180104]
53373 Q8TA86 (RP9) K R 210 rs150987618 Benign
53374 Q8TAA1 (RNASE11) P S 5 rs17113756 Benign
53375 Q8TAA1 (RNASE11) T S 74 rs35818240 Benign
53376 Q8TAA9 (VANGL1) E K 25 rs61734296 Benign
53377 Q8TAA9 (VANGL1) A T 116 rs4839469 Benign
53378 Q8TAA9 (VANGL1) R Q 175 rs201441696 Benign
53379 Q8TAA9 (VANGL1) V I 239 rs121918218 Disease: Sacral defect with anterior meningocele (SDAM) [MIM:600145]
53380 Q8TAA9 (VANGL1) T M 251 rs201630629 Benign
53381 Q8TAA9 (VANGL1) R Q 274 rs121918219 Disease: Neural tube defects (NTD) [MIM:182940]
53382 Q8TAA9 (VANGL1) Y H 290 rs145309218 Benign
53383 Q8TAA9 (VANGL1) M T 328 rs121918220 Disease: Neural tube defects (NTD) [MIM:182940]
53384 Q8TAA9 (VANGL1) E A 347 rs34059106 Benign
53385 Q8TAA9 (VANGL1) D E 468 - Benign
53386 Q8TAB3 (PCDH19) L P 25 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53387 Q8TAB3 (PCDH19) V G 72 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53388 Q8TAB3 (PCDH19) L R 81 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53389 Q8TAB3 (PCDH19) D N 121 rs796052795 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53390 Q8TAB3 (PCDH19) T R 146 rs796052799 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53391 Q8TAB3 (PCDH19) A T 153 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53392 Q8TAB3 (PCDH19) L R 190 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53393 Q8TAB3 (PCDH19) V L 191 rs753757730 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53394 Q8TAB3 (PCDH19) E Q 199 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53395 Q8TAB3 (PCDH19) H P 203 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53396 Q8TAB3 (PCDH19) F C 206 rs746274631 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53397 Q8TAB3 (PCDH19) F Y 206 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53398 Q8TAB3 (PCDH19) N S 232 rs587784299 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53399 Q8TAB3 (PCDH19) N S 234 rs1555985475 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53400 Q8TAB3 (PCDH19) P L 236 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53401 Q8TAB3 (PCDH19) P S 236 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53402 Q8TAB3 (PCDH19) E D 249 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53403 Q8TAB3 (PCDH19) A D 262 rs1555985448 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53404 Q8TAB3 (PCDH19) S P 276 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53405 Q8TAB3 (PCDH19) N S 340 rs796052839 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53406 Q8TAB3 (PCDH19) D E 341 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53407 Q8TAB3 (PCDH19) P R 344 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53408 Q8TAB3 (PCDH19) D E 377 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53409 Q8TAB3 (PCDH19) D H 377 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53410 Q8TAB3 (PCDH19) T I 404 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53411 Q8TAB3 (PCDH19) E Q 414 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53412 Q8TAB3 (PCDH19) L P 433 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53413 Q8TAB3 (PCDH19) V E 441 rs132630323 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53414 Q8TAB3 (PCDH19) N H 447 - Disease: -
53415 Q8TAB3 (PCDH19) G R 513 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53416 Q8TAB3 (PCDH19) L P 543 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53417 Q8TAB3 (PCDH19) N K 557 rs267606933 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53418 Q8TAB3 (PCDH19) P R 561 rs796052819 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53419 Q8TAB3 (PCDH19) P L 567 rs201989363 Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53420 Q8TAB3 (PCDH19) D N 618 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53421 Q8TAB3 (PCDH19) V M 642 - Disease: Epileptic encephalopat hy, early infantile, 9 (EIEE9) [MIM:300088]
53422 Q8TAB3 (PCDH19) R Q 958 rs748581653 Benign
53423 Q8TAB3 (PCDH19) R C 980 rs3764758 Benign
53424 Q8TAB3 (PCDH19) L V 1094 rs184545774 Benign
53425 Q8TAB3 (PCDH19) R G 1107 rs191333060 Benign
53426 Q8TAB3 (PCDH19) R H 1107 rs200021840 Benign
53427 Q8TAB3 (PCDH19) N H 1134 rs141816797 Benign
53428 Q8TAD8 (SNIP1) E G 366 rs387906986 Disease: Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501]
53429 Q8TAE6 (PPP1R14C) T A 10 rs2297672 Benign
53430 Q8TAF7 (ZNF461) N S 87 rs10419469 Benign
53431 Q8TAF8 (LHFPL5) Y C 127 rs104893975 Disease: Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
53432 Q8TAF8 (LHFPL5) R W 158 rs753739358 Disease: Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
53433 Q8TAF8 (LHFPL5) T M 165 rs104893976 Disease: Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
53434 Q8TAF8 (LHFPL5) R L 176 rs774466373 Disease: Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
53435 Q8TAG5 (VSTM2A) E K 84 rs17855529 Benign
53436 Q8TAG9 (EXOC6) T I 396 rs1326331 Benign
53437 Q8TAG9 (EXOC6) L V 523 rs11187225 Benign
53438 Q8TAG9 (EXOC6) T I 578 rs35647717 Benign
53439 Q8TAI1 (TYMSOS) R G 62 rs2853533 Benign
53440 Q8TAK5 (GABPB2) V I 62 rs11204774 Benign
53441 Q8TAL5 (C9orf43) D G 252 rs41313331 Benign
53442 Q8TAM1 (BBS10) V G 11 rs137852838 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53443 Q8TAM1 (BBS10) R P 34 rs137852836 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53444 Q8TAM1 (BBS10) R W 49 rs768933093 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53445 Q8TAM1 (BBS10) L P 55 rs1460517643 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53446 Q8TAM1 (BBS10) C W 91 rs148374859 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53447 Q8TAM1 (BBS10) D N 142 rs142863601 Benign
53448 Q8TAM1 (BBS10) L S 170 rs780916348 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53449 Q8TAM1 (BBS10) K T 188 - Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53450 Q8TAM1 (BBS10) C W 195 - Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53451 Q8TAM1 (BBS10) Y C 197 rs756632517 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53452 Q8TAM1 (BBS10) V G 240 - Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53453 Q8TAM1 (BBS10) L F 308 - Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53454 Q8TAM1 (BBS10) S A 311 rs137852837 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53455 Q8TAM1 (BBS10) S L 329 rs1000990130 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53456 Q8TAM1 (BBS10) P L 363 rs938066133 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53457 Q8TAM1 (BBS10) L F 376 rs11109474 Benign
53458 Q8TAM1 (BBS10) H Q 410 rs1447555059 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53459 Q8TAM1 (BBS10) L S 414 rs786204575 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53460 Q8TAM1 (BBS10) P L 539 rs35676114 Benign
53461 Q8TAM1 (BBS10) K R 579 rs141521925 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53462 Q8TAM1 (BBS10) L S 600 - Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53463 Q8TAM1 (BBS10) Y C 613 rs575957641 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53464 Q8TAM1 (BBS10) Y H 613 rs141647931 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53465 Q8TAM1 (BBS10) A V 636 rs113224628 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53466 Q8TAM1 (BBS10) G V 677 rs1555202553 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53467 Q8TAM1 (BBS10) L P 687 - Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53468 Q8TAM1 (BBS10) T P 689 rs759387000 Disease: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
53469 Q8TAM1 (BBS10) H R 715 rs769179905 Benign
53470 Q8TAP9 (MPLKIP) M V 144 rs137853117 Disease: Trichothiody strophy 4, non-photosen sitive (TTD4) [MIM:234050]
53471 Q8TAQ2 (SMARCC2) N D 134 - Disease: Coffin-Siris syndrome 8 (CSS8) [MIM:618362]
53472 Q8TAQ2 (SMARCC2) L P 609 - Disease: Coffin-Siris syndrome 8 (CSS8) [MIM:618362]
53473 Q8TAQ2 (SMARCC2) L P 610 - Disease: Coffin-Siris syndrome 8 (CSS8) [MIM:618362]
53474 Q8TAQ2 (SMARCC2) L P 613 - Disease: Coffin-Siris syndrome 8 (CSS8) [MIM:618362]
53475 Q8TAQ9 (SUN3) I V 127 rs17852360 Benign
53476 Q8TAQ9 (SUN3) L V 177 rs7797657 Benign
53477 Q8TAS1 (UHMK1) L V 159 rs34466082 Benign
53478 Q8TAS1 (UHMK1) Y D 197 rs56201055 Benign
53479 Q8TAT2 (FGFBP3) A T 107 rs10881994 Benign
53480 Q8TAT2 (FGFBP3) E V 206 rs1107947 Benign
53481 Q8TAT5 (NEIL3) R C 38 rs34007209 Benign
53482 Q8TAT5 (NEIL3) V M 76 rs34112288 Benign
53483 Q8TAT5 (NEIL3) P R 117 rs7689099 Benign
53484 Q8TAT5 (NEIL3) Q H 172 rs17064658 Benign
53485 Q8TAT5 (NEIL3) H R 286 rs34193982 Benign
53486 Q8TAT5 (NEIL3) I V 346 rs17064676 Benign
53487 Q8TAT5 (NEIL3) P L 443 rs13112358 Benign
53488 Q8TAT5 (NEIL3) Q H 471 rs13112390 Benign
53489 Q8TAT5 (NEIL3) G R 520 rs1876268 Benign
53490 Q8TAT5 (NEIL3) A S 547 rs36005630 Benign
53491 Q8TAT5 (NEIL3) H R 556 rs35418725 Benign
53492 Q8TAU3 (ZNF417) N S 495 rs10416584 Benign
53493 Q8TAV3 (CYP2W1) E A 58 rs1316523256 Benign
53494 Q8TAV3 (CYP2W1) A T 181 rs3735684 Benign
53495 Q8TAV3 (CYP2W1) V I 432 rs78873069 Benign
53496 Q8TAV3 (CYP2W1) Q H 482 rs773499447 Benign
53497 Q8TAV3 (CYP2W1) P L 488 rs3808348 Benign
53498 Q8TAW3 (ZNF671) A V 149 rs3746207 Benign
53499 Q8TAW3 (ZNF671) P S 237 rs34419645 Benign
53500 Q8TAX7 (MUC7) N K 80 rs6826961 Benign
53501 Q8TAX9 (GSDMB) E G 122 rs12450091 Benign
53502 Q8TAX9 (GSDMB) T A 132 rs4619433 Benign
53503 Q8TAX9 (GSDMB) G R 299 rs2305479 Benign
53504 Q8TAX9 (GSDMB) P S 306 rs2305480 Benign
53505 Q8TAX9 (GSDMB) R C 325 rs16965388 Benign
53506 Q8TAY7 (FAM110D) H R 53 rs3748856 Benign
53507 Q8TAZ6 (CMTM2) I T 122 rs2290182 Benign
53508 Q8TB03 (CXorf38) T A 176 rs17145855 Benign
53509 Q8TB22 (SPATA20) Q E 88 rs8076632 Benign
53510 Q8TB22 (SPATA20) S T 483 rs9913430 Benign
53511 Q8TB22 (SPATA20) K R 609 rs8065903 Benign
53512 Q8TB24 (RIN3) E K 111 rs2274542 Benign
53513 Q8TB24 (RIN3) H L 215 rs3829947 Benign
53514 Q8TB24 (RIN3) H P 215 rs3829947 Benign
53515 Q8TB24 (RIN3) H R 215 rs3829947 Benign
53516 Q8TB24 (RIN3) T I 425 rs3742717 Benign
53517 Q8TB24 (RIN3) T M 425 rs3742717 Benign
53518 Q8TB24 (RIN3) G A 613 rs12434929 Benign
53519 Q8TB36 (GDAP1) R G 120 - Disease: Charcot- Marie-Tooth disease 2K (CMT2K) [MIM:607831]
53520 Q8TB36 (GDAP1) R Q 120 rs1174933176 Disease: Charcot- Marie-Tooth disease 4A (CMT4A) [MIM:214400]
53521 Q8TB36 (GDAP1) R W 120 rs104894078 Disease: Charcot- Marie-Tooth disease 2K (CMT2K) [MIM:607831]
53522 Q8TB36 (GDAP1) H R 123 rs397515442 Disease: Charcot- Marie-Tooth disease 2K (CMT2K) [MIM:607831]
53523 Q8TB36 (GDAP1) A G 156 rs397515441 Disease: Charcot- Marie-Tooth disease 2K (CMT2K) [MIM:607831]
53524 Q8TB36 (GDAP1) R H 161 rs104894076 Disease: Charcot- Marie-Tooth disease 4A (CMT4A) [MIM:214400]
53525 Q8TB36 (GDAP1) H R 256 rs1476856429 Disease: Charcot- Marie-Tooth disease 2K (CMT2K) [MIM:607831]
53526 Q8TB36 (GDAP1) R C 282 rs28937906 Disease: Charcot- Marie-Tooth disease, recessive, intermediate type, A (CMTRIA) [MIM:608340]
53527 Q8TB36 (GDAP1) R H 282 rs375431837 Disease: Charcot- Marie-Tooth disease 2K (CMT2K) [MIM:607831]
53528 Q8TB36 (GDAP1) R Q 310 rs1323153568 Disease: Charcot- Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706]
53529 Q8TB36 (GDAP1) R W 310 rs538389475 Disease: Charcot- Marie-Tooth disease 2K (CMT2K) [MIM:607831]
53530 Q8TB37 (NUBPL) D Y 105 rs397515440 Disease: Mitochondria l complex I deficiency, nuclear type 21 (MC1DN21) [MIM:618242]
53531 Q8TB37 (NUBPL) L F 193 rs552722349 Disease: Mitochondria l complex I deficiency, nuclear type 21 (MC1DN21) [MIM:618242]
53532 Q8TB37 (NUBPL) N T 198 rs11558436 Benign
53533 Q8TB45 (DEPTOR) N S 148 rs34057546 Benign
53534 Q8TB45 (DEPTOR) N S 204 rs2271900 Benign
53535 Q8TB45 (DEPTOR) S N 389 rs4871827 Benign
53536 Q8TB52 (FBXO30) V M 375 rs9373475 Benign
53537 Q8TB52 (FBXO30) S C 382 rs17075385 Benign
53538 Q8TB52 (FBXO30) H Q 583 rs3811102 Benign
53539 Q8TB61 (SLC35B2) L V 342 rs3734707 Benign
53540 Q8TB68 (PRR7) P H 127 rs17851889 Benign
53541 Q8TB69 (ZNF519) W R 18 rs16941623 Benign
53542 Q8TB69 (ZNF519) G S 89 rs10221432 Benign
53543 Q8TB69 (ZNF519) K E 206 rs2159940 Benign
53544 Q8TB69 (ZNF519) R I 229 rs8094412 Benign
53545 Q8TB72 (PUM2) N S 367 rs34032508 Benign
53546 Q8TBA6 (GOLGA5) A G 67 rs17128572 Benign
53547 Q8TBA6 (GOLGA5) M V 486 rs34139657 Benign
53548 Q8TBB5 (KLHDC4) L V 56 rs2303772 Benign
53549 Q8TBB5 (KLHDC4) T I 102 rs2303771 Benign
53550 Q8TBB5 (KLHDC4) G V 130 rs34779002 Benign
53551 Q8TBB5 (KLHDC4) L V 155 rs3751727 Benign
53552 Q8TBB6 (SLC7A14) A V 132 rs587777273 Disease: Retinitis pigmentosa 68 (RP68) [MIM:615725]
53553 Q8TBB6 (SLC7A14) G R 330 rs2276717 Disease: Retinitis pigmentosa 68 (RP68) [MIM:615725]
53554 Q8TBB6 (SLC7A14) C F 464 rs79668755 Disease: Retinitis pigmentosa 68 (RP68) [MIM:615725]
53555 Q8TBB6 (SLC7A14) F V 708 rs587777272 Disease: Retinitis pigmentosa 68 (RP68) [MIM:615725]
53556 Q8TBC3 (SHKBP1) Q L 507 rs17855499 Benign
53557 Q8TBC4 (UBA3) K R 9 rs17852113 Benign
53558 Q8TBC5 (ZSCAN18) G E 379 rs2258557 Benign
53559 Q8TBE0 (BAHD1) E G 26 rs3743143 Benign
53560 Q8TBE0 (BAHD1) D H 182 rs17856679 Benign
53561 Q8TBE0 (BAHD1) Q K 298 rs3803357 Benign
53562 Q8TBE3 (FNDC9) H N 50 rs17852104 Benign
53563 Q8TBE3 (FNDC9) V I 138 rs10037485 Benign
53564 Q8TBE3 (FNDC9) P A 166 rs17054522 Benign
53565 Q8TBE7 (SLC35G2) K R 400 rs1052618 Benign
53566 Q8TBF4 (ZCRB1) P Q 131 rs17852093 Benign
53567 Q8TBF5 (PIGX) P L 155 rs2291397 Benign
53568 Q8TBF5 (PIGX) E D 197 rs17852091 Benign
53569 Q8TBG4 (ETNPPL) S P 185 rs1377210 Benign
53570 Q8TBH0 (ARRDC2) R H 181 rs17852061 Benign
53571 Q8TBH0 (ARRDC2) R H 192 rs17852062 Benign
53572 Q8TBH0 (ARRDC2) A T 244 rs8110271 Benign
53573 Q8TBH0 (ARRDC2) L P 396 rs7259041 Benign
53574 Q8TBJ5 (FEZF2) P T 164 rs17852031 Benign
53575 Q8TBJ5 (FEZF2) G D 188 rs199850439 Benign
53576 Q8TBJ5 (FEZF2) S W 250 rs17852032 Benign
53577 Q8TBK2 (SETD6) R S 185 rs17852020 Benign
53578 Q8TBK2 (SETD6) R G 206 rs17852021 Benign
53579 Q8TBK2 (SETD6) D N 340 rs11865588 Benign
53580 Q8TBK2 (SETD6) T A 426 rs34965375 Benign
53581 Q8TBK2 (SETD6) A V 445 rs36085499 Benign
53582 Q8TBN0 (RAB3IL1) Q R 49 rs174477 Benign
53583 Q8TBN0 (RAB3IL1) H Y 323 rs3815045 Benign
53584 Q8TBP0 (TBC1D16) E K 476 rs34845477 Benign
53585 Q8TBP6 (SLC25A40) S N 105 rs200954020 Benign
53586 Q8TBP6 (SLC25A40) T I 123 rs724665 Benign
53587 Q8TBP6 (SLC25A40) K Q 186 rs3213633 Benign
53588 Q8TBR4 (STAG3L4) E Q 116 rs1045513 Benign
53589 Q8TBX8 (PIP4K2C) V A 84 rs17550713 Benign
53590 Q8TBX8 (PIP4K2C) K R 241 rs17852569 Benign
53591 Q8TBX8 (PIP4K2C) A G 300 rs2277319 Benign
53592 Q8TBY8 (PMFBP1) A T 172 rs217180 Benign
53593 Q8TBY8 (PMFBP1) E K 193 rs35370634 Benign
53594 Q8TBY8 (PMFBP1) R L 381 rs35781168 Benign
53595 Q8TBY8 (PMFBP1) K T 645 rs34832584 Benign
53596 Q8TBY8 (PMFBP1) T K 650 rs34832584 Benign
53597 Q8TBY8 (PMFBP1) K N 913 rs16973716 Benign
53598 Q8TBY9 (CFAP251) E G 61 rs12824001 Benign
53599 Q8TBY9 (CFAP251) G E 66 rs12824001 Benign
53600 Q8TBY9 (CFAP251) T M 383 rs34768683 Benign
53601 Q8TBY9 (CFAP251) L F 445 rs11043265 Benign
53602 Q8TBZ0 (CCDC110) P Q 209 rs7699687 Benign
53603 Q8TBZ0 (CCDC110) L M 299 rs7698680 Benign
53604 Q8TBZ0 (CCDC110) L M 382 rs9999097 Benign
53605 Q8TBZ0 (CCDC110) S F 409 rs11132306 Benign
53606 Q8TBZ0 (CCDC110) Y D 500 rs59319722 Benign
53607 Q8TBZ0 (CCDC110) I M 614 rs35596415 Benign
53608 Q8TBZ0 (CCDC110) Q R 669 rs6827370 Benign
53609 Q8TBZ0 (CCDC110) S L 817 rs9683564 Benign
53610 Q8TBZ0 (CCDC110) L M 819 rs34800518 Benign
53611 Q8TBZ2 (MYCBPAP) A T 387 rs1380657 Benign
53612 Q8TBZ2 (MYCBPAP) R W 688 rs9890721 Benign
53613 Q8TBZ2 (MYCBPAP) S R 910 rs1133818 Benign
53614 Q8TBZ3 (WDR20) P H 159 rs17852545 Benign
53615 Q8TBZ3 (WDR20) G C 444 rs12888595 Benign
53616 Q8TBZ5 (ZNF502) L P 28 rs6798400 Benign
53617 Q8TBZ5 (ZNF502) Q R 174 rs56084453 Benign
53618 Q8TBZ5 (ZNF502) E A 243 rs7640654 Benign
53619 Q8TBZ6 (TRMT10A) R Q 133 rs10007569 Benign
53620 Q8TBZ6 (TRMT10A) G R 206 rs587777744 Disease: Microcephaly , short stature, and impaired glucose metabolism 1 (MSSGM1) [MIM:616033]
53621 Q8TBZ9 (TEX47) D H 48 rs2373396 Benign
53622 Q8TBZ9 (TEX47) I V 126 rs2293583 Benign
53623 Q8TBZ9 (TEX47) C S 186 rs34276371 Benign
53624 Q8TBZ9 (TEX47) E A 221 rs2373398 Benign
53625 Q8TBZ9 (TEX47) E K 221 rs2373397 Benign
53626 Q8TC05 (MDM1) T I 103 rs962976 Benign
53627 Q8TC05 (MDM1) V I 383 rs17224810 Benign
53628 Q8TC05 (MDM1) R H 489 rs2306393 Benign
53629 Q8TC05 (MDM1) P L 552 rs2306392 Benign
53630 Q8TC20 (CAGE1) T I 169 rs10223538 Benign
53631 Q8TC20 (CAGE1) E A 282 rs2876098 Benign
53632 Q8TC21 (ZNF596) T K 136 rs2074718 Benign
53633 Q8TC21 (ZNF596) V G 476 rs2072174 Benign
53634 Q8TC27 (ADAM32) Q R 98 rs17856744 Benign
53635 Q8TC27 (ADAM32) S G 160 rs17852343 Benign
53636 Q8TC27 (ADAM32) L V 327 rs9643859 Benign
53637 Q8TC27 (ADAM32) T S 467 rs7845771 Benign
53638 Q8TC27 (ADAM32) K N 658 rs13277386 Benign
53639 Q8TC27 (ADAM32) D E 778 rs28705715 Benign
53640 Q8TC36 (SUN5) E K 16 rs3746387 Benign
53641 Q8TC36 (SUN5) E D 39 rs1133358 Benign
53642 Q8TC36 (SUN5) G R 114 - Disease: Spermatogeni c failure 16 (SPGF16) [MIM:617187]
53643 Q8TC36 (SUN5) I V 120 rs35216976 Benign
53644 Q8TC36 (SUN5) A T 174 rs17123951 Benign
53645 Q8TC36 (SUN5) T M 275 rs756459525 Disease: Spermatogeni c failure 16 (SPGF16) [MIM:617187]
53646 Q8TC36 (SUN5) N I 348 rs758335571 Disease: Spermatogeni c failure 16 (SPGF16) [MIM:617187]
53647 Q8TC41 (RNF217) V I 381 rs475076 Benign
53648 Q8TC44 (POC1B) R P 106 rs76216585 Disease: Cone-rod dystrophy 20 (CORD20) [MIM:615973]
53649 Q8TC56 (FAM71B) A V 543 rs17852327 Benign
53650 Q8TC56 (FAM71B) M T 564 rs31208 Benign
53651 Q8TC56 (FAM71B) V I 599 rs2115480 Benign
53652 Q8TC57 (M1AP) R Q 5 rs3025980 Benign
53653 Q8TC57 (M1AP) T P 195 rs7602159 Benign
53654 Q8TC71 (SPATA18) S P 227 rs3860707 Benign
53655 Q8TC71 (SPATA18) K R 483 rs11558773 Benign
53656 Q8TC84 (FANK1) P L 12 rs17153879 Benign
53657 Q8TC84 (FANK1) R S 46 rs17153882 Benign
53658 Q8TC84 (FANK1) L V 329 rs1666 Benign
53659 Q8TC84 (FANK1) C F 343 rs17153976 Benign
53660 Q8TC90 (CCER1) D E 286 rs11105882 Benign
53661 Q8TC90 (CCER1) I M 379 rs17855513 Benign
53662 Q8TC92 (ENOX1) E D 16 rs7338624 Benign
53663 Q8TC94 (ACTL9) F S 37 rs2340550 Benign
53664 Q8TC94 (ACTL9) V A 51 rs10410943 Benign
53665 Q8TC94 (ACTL9) H N 227 rs4804079 Benign
53666 Q8TC99 (FNDC8) S P 36 rs1871892 Benign
53667 Q8TC99 (FNDC8) A T 127 rs12952106 Benign
53668 Q8TCB0 (IFI44) W R 9 rs2070123 Benign
53669 Q8TCB6 (OR51E1) S N 9 rs17224476 Benign
53670 Q8TCB6 (OR51E1) S N 10 rs17224476 Benign
53671 Q8TCC3 (MRPL30) A T 130 rs1044575 Benign
53672 Q8TCC7 (SLC22A8) F L 129 rs11568479 Benign
53673 Q8TCC7 (SLC22A8) R S 149 rs45566039 Benign
53674 Q8TCC7 (SLC22A8) I R 260 rs11568493 Benign
53675 Q8TCC7 (SLC22A8) R W 277 rs11568492 Benign
53676 Q8TCC7 (SLC22A8) V A 281 rs45438191 Benign
53677 Q8TCC7 (SLC22A8) I F 305 rs11568482 Benign
53678 Q8TCC7 (SLC22A8) A V 389 rs749944923 Benign
53679 Q8TCC7 (SLC22A8) V I 448 rs11568486 Benign
53680 Q8TCD1 (C18orf32) P H 37 rs11537626 Benign
53681 Q8TCD5 (NT5C) P L 68 rs11541956 Benign
53682 Q8TCD6 (PHOSPHO2) K E 206 rs56036676 Benign
53683 Q8TCE9 (LGALS14) C R 67 rs4830 Benign
53684 Q8TCE9 (LGALS14) F L 127 rs10755 Benign
53685 Q8TCG1 (CIP2A) K R 126 rs7648496 Benign
53686 Q8TCG1 (CIP2A) R Q 229 rs2278911 Benign
53687 Q8TCG1 (CIP2A) T I 409 rs9856308 Benign
53688 Q8TCG1 (CIP2A) T A 447 rs34944683 Benign
53689 Q8TCG1 (CIP2A) P L 494 rs13083928 Benign
53690 Q8TCG1 (CIP2A) S A 572 rs34172460 Benign
53691 Q8TCG1 (CIP2A) R T 680 rs6777766 Benign
53692 Q8TCG1 (CIP2A) I V 759 rs13071874 Benign
53693 Q8TCG2 (PI4K2B) S P 78 rs313549 Benign
53694 Q8TCG5 (CPT1C) R C 37 rs786204767 Disease: Spastic paraplegia 73, autosomal dominant (SPG73) [MIM:616282]
53695 Q8TCI5 (PIFO) R K 80 rs150508940 Benign
53696 Q8TCI5 (PIFO) K N 97 rs15396 Benign
53697 Q8TCI5 (PIFO) H N 105 rs2184884 Benign
53698 Q8TCJ0 (FBXO25) N D 36 rs17665340 Benign
53699 Q8TCJ0 (FBXO25) R H 38 rs10090550 Benign
53700 Q8TCS8 (PNPT1) I V 121 rs782572 Benign
53701 Q8TCS8 (PNPT1) E Q 230 rs34928857 Benign
53702 Q8TCS8 (PNPT1) Q R 387 rs397514598 Disease: Combined oxidative phosphorylat ion deficiency 13 (COXPD13) [MIM:614932]
53703 Q8TCS8 (PNPT1) E G 475 rs397514599 Disease: Deafness, autosomal recessive, 70 (DFNB70) [MIM:614934]
53704 Q8TCS8 (PNPT1) N D 590 rs7594497 Benign
53705 Q8TCT0 (CERK) I V 191 rs16995615 Benign
53706 Q8TCT0 (CERK) T M 211 rs9306515 Benign
53707 Q8TCT0 (CERK) L F 306 rs13057352 Benign
53708 Q8TCT7 (SPPL2B) S P 574 rs10402284 Benign
53709 Q8TCT8 (SPPL2A) V I 90 rs8034443 Benign
53710 Q8TCT9 (HM13) A P 259 rs1044419 Benign
53711 Q8TCU3 (SLC7A13) V M 249 rs2976189 Benign
53712 Q8TCU3 (SLC7A13) R K 380 rs4419794 Benign
53713 Q8TCU3 (SLC7A13) M T 452 rs9656982 Benign
53714 Q8TCU3 (SLC7A13) E K 470 rs9693999 Benign
53715 Q8TCU4 (ALMS1) V G 672 rs2037814 Benign
53716 Q8TCU4 (ALMS1) G A 1413 rs886038612 Benign
53717 Q8TCU4 (ALMS1) I V 1876 rs6546838 Benign
53718 Q8TCU4 (ALMS1) S R 2112 rs6724782 Benign
53719 Q8TCU4 (ALMS1) R P 2285 rs6546839 Benign
53720 Q8TCU4 (ALMS1) S N 2575 rs3820700 Benign
53721 Q8TCU4 (ALMS1) D H 2673 rs2017116 Benign
53722 Q8TCU4 (ALMS1) N S 2857 rs10193972 Benign
53723 Q8TCU4 (ALMS1) K E 3435 rs34071195 Benign
53724 Q8TCU5 (GRIN3A) S I 72 rs558734093 Benign
53725 Q8TCU5 (GRIN3A) G S 116 rs111415222 Benign
53726 Q8TCU5 (GRIN3A) R W 337 rs773593066 Benign
53727 Q8TCU5 (GRIN3A) V M 362 rs10989591 Benign
53728 Q8TCU5 (GRIN3A) I T 375 rs144427058 Benign
53729 Q8TCU5 (GRIN3A) S P 434 rs776062103 Benign
53730 Q8TCU5 (GRIN3A) R H 480 rs34755188 Benign
53731 Q8TCU5 (GRIN3A) G R 487 rs10989589 Benign
53732 Q8TCU5 (GRIN3A) Y F 493 rs773322226 Benign
53733 Q8TCU5 (GRIN3A) N S 565 rs371244839 Benign
53734 Q8TCU5 (GRIN3A) K N 586 rs142284927 Benign
53735 Q8TCU5 (GRIN3A) R S 793 rs144770241 Benign
53736 Q8TCU5 (GRIN3A) D N 835 rs10989563 Benign
53737 Q8TCU5 (GRIN3A) T M 921 rs144712629 Benign
53738 Q8TCU5 (GRIN3A) Y H 956 rs141253502 Benign
53739 Q8TCU5 (GRIN3A) R Q 1041 rs3739722 Benign
53740 Q8TCU6 (PREX1) V M 659 rs55904123 Benign
53741 Q8TCU6 (PREX1) R C 696 rs7271583 Benign
53742 Q8TCU6 (PREX1) Q H 786 rs41283558 Benign
53743 Q8TCU6 (PREX1) A T 1118 rs6012504 Benign
53744 Q8TCU6 (PREX1) V I 1240 rs16993997 Benign
53745 Q8TCU6 (PREX1) K E 1340 rs2664521 Benign
53746 Q8TCU6 (PREX1) S T 1559 rs3936192 Benign
53747 Q8TCV5 (WFDC5) H Y 97 rs17422688 Benign
53748 Q8TCW7 (ZPLD1) I F 12 rs6784362 Benign
53749 Q8TCW7 (ZPLD1) N S 29 rs6784389 Benign
53750 Q8TCW7 (ZPLD1) T A 197 rs12054046 Benign
53751 Q8TCW9 (PROKR1) S G 40 rs7570797 Benign
53752 Q8TCX1 (DYNC2LI1) F S 33 rs2288709 Benign
53753 Q8TCX1 (DYNC2LI1) P S 58 rs17854966 Benign
53754 Q8TCX1 (DYNC2LI1) L V 117 rs201948500 Disease: Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) [MIM:617088]
53755 Q8TCX1 (DYNC2LI1) T I 220 rs886037860 Disease: Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) [MIM:617088]
53756 Q8TCX1 (DYNC2LI1) I L 230 rs11556157 Benign
53757 Q8TCY9 (URGCP) T A 697 rs2232106 Benign
53758 Q8TCY9 (URGCP) L F 756 rs2232107 Benign
53759 Q8TCY9 (URGCP) M L 779 rs2232108 Benign
53760 Q8TD07 (RAET1E) R H 12 rs9383583 Benign
53761 Q8TD07 (RAET1E) Y N 82 rs2151910 Benign
53762 Q8TD07 (RAET1E) R H 128 rs6925151 Benign
53763 Q8TD07 (RAET1E) A T 141 rs9383921 Benign
53764 Q8TD07 (RAET1E) T I 142 rs9371533 Benign
53765 Q8TD07 (RAET1E) R G 194 rs57292884 Benign
53766 Q8TD07 (RAET1E) V L 237 rs2342767 Benign
53767 Q8TD08 (MAPK15) T K 221 rs60732298 Benign
53768 Q8TD08 (MAPK15) S P 505 rs56038219 Benign
53769 Q8TD10 (MIPOL1) Q L 141 rs35870036 Benign
53770 Q8TD16 (BICD2) K R 90 rs61754130 Benign
53771 Q8TD16 (BICD2) S L 107 rs398123028 Disease: Spinal muscular atrophy, lower extremity- predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
53772 Q8TD16 (BICD2) N T 188 rs398123029 Disease: Spinal muscular atrophy, lower extremity- predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
53773 Q8TD16 (BICD2) I F 189 - Disease: Spinal muscular atrophy, lower extremity- predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
53774 Q8TD16 (BICD2) Q R 194 - Disease: Spinal muscular atrophy, lower extremity- predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291]
53775 Q8TD16 (BICD2) R P 501 rs398123032 Disease: Spinal muscular atrophy, lower extremity- predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
53776 Q8TD16 (BICD2) K T 508 rs398123031 Disease: Spinal muscular atrophy, lower extremity- predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
53777 Q8TD16 (BICD2) C W 542 - Disease: Spinal muscular atrophy, lower extremity- predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291]
53778 Q8TD16 (BICD2) R C 694 rs797045412 Disease: Spinal muscular atrophy, lower extremity- predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291]
53779 Q8TD16 (BICD2) T M 703 rs371707778 Disease: Spinal muscular atrophy, lower extremity- predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
53780 Q8TD16 (BICD2) E G 774 rs398123030 Disease: Spinal muscular atrophy, lower extremity- predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
53781 Q8TD17 (ZNF398) E D 87 rs3801979 Benign
53782 Q8TD17 (ZNF398) S L 294 rs2240370 Benign
53783 Q8TD19 (NEK9) I T 167 rs879253775 Disease: Nevus comedonicus (NC) [MIM:617025]
53784 Q8TD19 (NEK9) R H 429 rs10146482 Benign
53785 Q8TD19 (NEK9) I T 573 rs1555352529 Disease: Nevus comedonicus (NC) [MIM:617025]
53786 Q8TD19 (NEK9) R H 681 rs142859694 Disease: Arthrogrypos is, Perthes disease, and upward gaze palsy (APUG) [MIM:614262]
53787 Q8TD19 (NEK9) P T 828 rs36014869 Benign
53788 Q8TD23 (ZNF675) L V 124 rs4380159 Benign
53789 Q8TD23 (ZNF675) V A 197 rs11671053 Benign
53790 Q8TD23 (ZNF675) A T 410 rs73029758 Benign
53791 Q8TD26 (CHD6) Q H 780 rs4474937 Benign
53792 Q8TD26 (CHD6) H Q 2161 rs3817893 Benign
53793 Q8TD30 (GPT2) S R 153 rs786203999 Disease: Mental retardation, autosomal recessive 49 (MRT49) [MIM:616281]
53794 Q8TD31 (CCHCR1) R Q 102 rs130075 Benign
53795 Q8TD31 (CCHCR1) R W 103 rs130065 Benign
53796 Q8TD31 (CCHCR1) R W 109 rs130076 Benign
53797 Q8TD31 (CCHCR1) S R 164 rs130066 Benign
53798 Q8TD31 (CCHCR1) L Q 179 rs11540822 Benign
53799 Q8TD31 (CCHCR1) E D 275 rs130067 Benign
53800 Q8TD31 (CCHCR1) A T 367 rs2027937 Benign
53801 Q8TD31 (CCHCR1) R Q 417 rs130069 Benign
53802 Q8TD31 (CCHCR1) R W 417 rs130068 Benign
53803 Q8TD31 (CCHCR1) K R 546 rs2073720 Benign
53804 Q8TD31 (CCHCR1) G C 575 rs130079 Benign
53805 Q8TD31 (CCHCR1) R Q 627 rs130072 Benign
53806 Q8TD31 (CCHCR1) Q H 639 rs130074 Benign
53807 Q8TD31 (CCHCR1) A V 733 rs140560656 Benign
53808 Q8TD31 (CCHCR1) S C 776 rs1576 Benign
53809 Q8TD33 (SCGB1C1) I R 70 rs2686894 Benign
53810 Q8TD35 (LKAAEAR1) G W 9 rs4431000 Benign
53811 Q8TD35 (LKAAEAR1) E D 85 rs77021907 Benign
53812 Q8TD43 (TRPM4) E K 7 rs267607142 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53813 Q8TD43 (TRPM4) A T 101 rs113984787 Benign
53814 Q8TD43 (TRPM4) Y C 103 rs144781529 Benign
53815 Q8TD43 (TRPM4) Q H 131 rs172146854 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53816 Q8TD43 (TRPM4) R W 164 rs387907216 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53817 Q8TD43 (TRPM4) R H 252 rs146564314 Benign
53818 Q8TD43 (TRPM4) Q R 293 rs172147855 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53819 Q8TD43 (TRPM4) A T 432 rs201907325 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53820 Q8TD43 (TRPM4) D A 561 rs56355369 Benign
53821 Q8TD43 (TRPM4) G S 582 rs172149856 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53822 Q8TD43 (TRPM4) Y H 790 rs172150857 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53823 Q8TD43 (TRPM4) G D 844 rs200038418 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53824 Q8TD43 (TRPM4) Q R 854 rs172155862 Benign
53825 Q8TD43 (TRPM4) K R 914 rs172151858 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53826 Q8TD43 (TRPM4) P S 970 rs172152859 Disease: Progressive familial heart block 1B (PFHB1B) [MIM:604559]
53827 Q8TD43 (TRPM4) I M 1033 - Disease: Erythrokerat odermia variabilis et progressiva 6 (EKVP6) [MIM:618531]
53828 Q8TD43 (TRPM4) I T 1040 - Disease: Erythrokerat odermia variabilis et progressiva 6 (EKVP6) [MIM:618531]
53829 Q8TD43 (TRPM4) P L 1204 rs150391806 Benign
53830 Q8TD46 (CD200R1) R K 89 rs2171509 Benign
53831 Q8TD46 (CD200R1) P T 121 rs4596117 Benign
53832 Q8TD46 (CD200R1) Q H 177 rs9826308 Benign
53833 Q8TD46 (CD200R1) E Q 312 rs9865242 Benign
53834 Q8TD55 (PLEKHO2) P S 290 rs2010875 Benign
53835 Q8TD57 (DNAH3) R W 545 rs16970910 Benign
53836 Q8TD57 (DNAH3) I M 1565 rs330150 Benign
53837 Q8TD57 (DNAH3) V I 1583 rs16970832 Benign
53838 Q8TD57 (DNAH3) T M 1752 rs13332291 Benign
53839 Q8TD57 (DNAH3) I N 2399 rs34179606 Benign
53840 Q8TD57 (DNAH3) I V 2804 rs12929546 Benign
53841 Q8TD57 (DNAH3) K T 2949 rs33928718 Benign
53842 Q8TD57 (DNAH3) E K 3457 rs3743695 Benign
53843 Q8TD57 (DNAH3) L I 3639 rs34771199 Benign
53844 Q8TD57 (DNAH3) R C 3645 rs12924551 Benign
53845 Q8TD57 (DNAH3) R W 3744 rs2301620 Benign
53846 Q8TD86 (CALML6) W R 60 rs28581776 Benign
53847 Q8TD90 (MAGEE2) G C 291 rs12688600 Benign
53848 Q8TD91 (MAGEC3) S P 155 rs11095909 Benign
53849 Q8TD91 (MAGEC3) L M 165 rs11095910 Benign
53850 Q8TD91 (MAGEC3) A T 307 rs176024 Benign
53851 Q8TD91 (MAGEC3) A T 328 rs176026 Benign
53852 Q8TD94 (KLF14) A P 173 rs35770036 Benign
53853 Q8TDB4 (MGARP) A T 128 rs3208941 Benign
53854 Q8TDB6 (DTX3L) R K 425 rs2332285 Benign
53855 Q8TDB6 (DTX3L) K M 668 rs9868175 Benign
53856 Q8TDB8 (SLC2A14) G E 506 rs10845981 Benign
53857 Q8TDC0 (MYOZ3) S P 161 rs194134 Benign
53858 Q8TDC0 (MYOZ3) T N 209 rs7737542 Benign
53859 Q8TDC3 (BRSK1) T N 531 rs55892637 Benign
53860 Q8TDC3 (BRSK1) G S 749 rs12978445 Benign
53861 Q8TDC3 (BRSK1) P A 764 rs55796422 Benign
53862 Q8TDD1 (DDX54) R H 570 rs35519289 Benign
53863 Q8TDD1 (DDX54) R Q 693 rs11564 Benign
53864 Q8TDD1 (DDX54) V A 712 rs10354 Benign
53865 Q8TDD1 (DDX54) P L 821 rs1048889 Benign
53866 Q8TDE3 (RNASE8) P S 10 rs12437266 Benign
53867 Q8TDF5 (NETO1) S N 481 rs922999 Benign
53868 Q8TDF5 (NETO1) A G 487 rs17086286 Benign
53869 Q8TDF6 (RASGRP4) I T 18 rs892055 Benign
53870 Q8TDF6 (RASGRP4) Q L 120 - Benign
53871 Q8TDF6 (RASGRP4) V A 145 - Benign
53872 Q8TDF6 (RASGRP4) R C 261 - Benign
53873 Q8TDF6 (RASGRP4) R G 335 rs202008979 Benign
53874 Q8TDF6 (RASGRP4) E K 620 rs34377632 Benign
53875 Q8TDG4 (HELQ) V E 35 rs6831595 Benign
53876 Q8TDG4 (HELQ) L P 235 rs17006837 Benign
53877 Q8TDG4 (HELQ) P S 585 rs6817280 Benign
53878 Q8TDG4 (HELQ) V M 1094 rs17006794 Benign
53879 Q8TDI0 (CHD5) S I 1253 rs6657997 Benign
53880 Q8TDI0 (CHD5) S P 1539 rs2843493 Benign
53881 Q8TDI7 (TMC2) R K 123 rs6050063 Benign
53882 Q8TDI7 (TMC2) Q R 205 rs11908093 Benign
53883 Q8TDI7 (TMC2) W R 217 rs34884202 Benign
53884 Q8TDI7 (TMC2) S C 573 rs16987592 Benign
53885 Q8TDI7 (TMC2) S C 589 rs16987592 Benign
53886 Q8TDI7 (TMC2) E Q 800 rs768537423 Benign
53887 Q8TDI7 (TMC2) E Q 816 rs6115242 Benign
53888 Q8TDI8 (TMC1) E K 81 rs1796993 Benign
53889 Q8TDI8 (TMC1) R W 141 rs11143384 Benign
53890 Q8TDI8 (TMC1) M T 486 rs17058153 Benign
53891 Q8TDI8 (TMC1) D N 572 rs121908072 Disease: Deafness, autosomal dominant, 36 (DFNA36) [MIM:606705]
53892 Q8TDI8 (TMC1) M V 654 rs121908074 Disease: Deafness, autosomal recessive, 7 (DFNB7) [MIM:600974]
53893 Q8TDJ6 (DMXL2) E Q 144 rs35097381 Benign
53894 Q8TDJ6 (DMXL2) T M 497 rs17524906 Benign
53895 Q8TDJ6 (DMXL2) N D 903 rs16953073 Benign
53896 Q8TDJ6 (DMXL2) S P 1288 rs12102203 Benign
53897 Q8TDJ6 (DMXL2) D G 1481 rs35349640 Benign
53898 Q8TDJ6 (DMXL2) N S 1698 rs149028181 Benign
53899 Q8TDJ6 (DMXL2) A V 1712 - Disease: Epileptic encephalopat hy, early infantile, 81 (EIEE81) [MIM:618663]
53900 Q8TDJ6 (DMXL2) R H 2417 - Disease: Deafness, autosomal dominant, 71 (DFNA71) [MIM:617605]
53901 Q8TDL5 (BPIFB1) I V 84 rs1078761 Benign
53902 Q8TDL5 (BPIFB1) T A 140 rs34578060 Benign
53903 Q8TDL5 (BPIFB1) V M 284 rs6141383 Benign
53904 Q8TDL5 (BPIFB1) D H 287 rs34548457 Benign
53905 Q8TDL5 (BPIFB1) S P 298 rs6120221 Benign
53906 Q8TDL5 (BPIFB1) S I 313 rs6120222 Benign
53907 Q8TDL5 (BPIFB1) T S 464 rs17856249 Benign
53908 Q8TDL5 (BPIFB1) S T 479 rs1999663 Benign
53909 Q8TDM0 (BCAS4) E D 56 rs2272962 Benign
53910 Q8TDM0 (BCAS4) R H 173 rs7273412 Benign
53911 Q8TDM6 (DLG5) Q R 140 rs1248696 Benign
53912 Q8TDM6 (DLG5) P Q 1481 rs2289310 Benign
53913 Q8TDM6 (DLG5) A V 1600 rs4979794 Benign
53914 Q8TDN1 (KCNG4) G W 8 rs35379218 Benign
53915 Q8TDN1 (KCNG4) R W 206 rs11646443 Benign
53916 Q8TDN1 (KCNG4) C Y 255 rs17736370 Benign
53917 Q8TDN1 (KCNG4) E K 321 rs4782905 Benign
53918 Q8TDN1 (KCNG4) G R 325 rs7196482 Benign
53919 Q8TDN1 (KCNG4) R H 427 rs35649980 Benign
53920 Q8TDN2 (KCNV2) L Q 126 rs776275880 Disease: Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
53921 Q8TDN2 (KCNV2) W C 188 rs772921412 Disease: Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
53922 Q8TDN2 (KCNV2) S W 256 rs104894116 Disease: Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
53923 Q8TDN2 (KCNV2) A V 259 - Disease: Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
53924 Q8TDN2 (KCNV2) G D 459 rs104894115 Disease: Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
53925 Q8TDN2 (KCNV2) L V 533 rs12352254 Benign
53926 Q8TDP1 (RNASEH2C) R H 13 rs75328625 Disease: Aicardi- Goutieres syndrome 3 (AGS3) [MIM:610329]
53927 Q8TDP1 (RNASEH2C) D Y 39 rs773527127 Disease: Aicardi- Goutieres syndrome 3 (AGS3) [MIM:610329]
53928 Q8TDP1 (RNASEH2C) R W 69 rs78635798 Disease: Aicardi- Goutieres syndrome 3 (AGS3) [MIM:610329]
53929 Q8TDP1 (RNASEH2C) P L 76 rs76091978 Disease: Aicardi- Goutieres syndrome 3 (AGS3) [MIM:610329]
53930 Q8TDP1 (RNASEH2C) P L 138 - Disease: Aicardi- Goutieres syndrome 3 (AGS3) [MIM:610329]
53931 Q8TDP1 (RNASEH2C) K I 143 rs75146158 Disease: Aicardi- Goutieres syndrome 3 (AGS3) [MIM:610329]
53932 Q8TDP1 (RNASEH2C) P S 151 rs78464826 Disease: Aicardi- Goutieres syndrome 3 (AGS3) [MIM:610329]
53933 Q8TDQ0 (HAVCR2) Y C 82 rs184868814 Disease: T-cell lymphoma, subcutaneous panniculitis -like (SPTCL) [MIM:618398]
53934 Q8TDQ0 (HAVCR2) I M 97 rs35960726 Disease: T-cell lymphoma, subcutaneous panniculitis -like (SPTCL) [MIM:618398]
53935 Q8TDQ0 (HAVCR2) T I 101 rs147827860 Disease: T-cell lymphoma, subcutaneous panniculitis -like (SPTCL) [MIM:618398]
53936 Q8TDQ0 (HAVCR2) R L 140 rs1036199 Benign
53937 Q8TDQ1 (CD300LF) V A 19 rs35489971 Benign
53938 Q8TDQ1 (CD300LF) Q R 218 rs2034310 Benign
53939 Q8TDQ7 (GNPDA2) P S 182 rs17851302 Benign
53940 Q8TDR0 (TRAF3IP1) I S 17 - Disease: Senior-Loken syndrome 9 (SLSN9) [MIM:616629]
53941 Q8TDR0 (TRAF3IP1) V A 125 rs886037896 Disease: Senior-Loken syndrome 9 (SLSN9) [MIM:616629]
53942 Q8TDR0 (TRAF3IP1) V M 125 rs886037898 Disease: Senior-Loken syndrome 9 (SLSN9) [MIM:616629]
53943 Q8TDR0 (TRAF3IP1) N S 228 rs3769110 Benign
53944 Q8TDR0 (TRAF3IP1) R W 239 rs34723381 Benign
53945 Q8TDR0 (TRAF3IP1) K N 295 rs12464423 Benign
53946 Q8TDR0 (TRAF3IP1) T S 416 rs58277463 Benign
53947 Q8TDR0 (TRAF3IP1) M R 520 rs750055952 Disease: Senior-Loken syndrome 9 (SLSN9) [MIM:616629]
53948 Q8TDR0 (TRAF3IP1) M L 620 rs3739070 Benign
53949 Q8TDR4 (TCP10L) H R 145 rs9622 Benign
53950 Q8TDR4 (TCP10L) R H 194 rs16989521 Benign
53951 Q8TDS4 (HCAR2) Q R 187 rs676770 Benign
53952 Q8TDS4 (HCAR2) F L 198 rs676823 Benign
53953 Q8TDS4 (HCAR2) R C 311 rs7314976 Benign
53954 Q8TDS4 (HCAR2) M I 317 rs2454727 Benign
53955 Q8TDS5 (OXER1) M L 316 rs17029947 Benign
53956 Q8TDS5 (OXER1) L V 407 rs2278586 Benign
53957 Q8TDT2 (GPR152) L V 317 rs1638559 Benign
53958 Q8TDU9 (RXFP4) L S 329 rs2152051 Benign
53959 Q8TDV0 (GPR151) P L 40 rs17104742 Benign
53960 Q8TDV0 (GPR151) A V 144 rs7713676 Benign
53961 Q8TDV0 (GPR151) L V 261 rs7709485 Benign
53962 Q8TDV2 (GPR148) T P 317 rs272128 Benign
53963 Q8TDV5 (GPR119) S L 309 rs5975187 Benign
53964 Q8TDW0 (LRRC8C) D G 205 rs474536 Benign
53965 Q8TDW0 (LRRC8C) N S 468 rs12032393 Benign
53966 Q8TDW0 (LRRC8C) M I 800 rs12036569 Benign
53967 Q8TDW4 (ST7L) R Q 451 rs6658555 Benign
53968 Q8TDW4 (ST7L) A T 455 rs3736764 Benign
53969 Q8TDW4 (ST7L) G D 571 rs12069022 Benign
53970 Q8TDW5 (SYTL5) I V 275 rs4827331 Benign
53971 Q8TDW5 (SYTL5) R C 302 rs57226394 Benign
53972 Q8TDW7 (FAT3) S F 412 rs10830902 Benign
53973 Q8TDW7 (FAT3) I V 462 rs16917409 Benign
53974 Q8TDW7 (FAT3) V G 1167 rs11821058 Benign
53975 Q8TDW7 (FAT3) Q R 1726 rs7949157 Benign
53976 Q8TDW7 (FAT3) N S 2293 rs16918105 Benign
53977 Q8TDW7 (FAT3) V F 2622 rs17615477 Benign
53978 Q8TDW7 (FAT3) I V 2755 rs3847531 Benign
53979 Q8TDW7 (FAT3) V L 3518 rs10765565 Benign
53980 Q8TDW7 (FAT3) S G 3812 rs4753069 Benign
53981 Q8TDX6 (CSGALNACT) V I 137 rs17128518 Benign
53982 Q8TDX6 (CSGALNACT) S N 193 rs7017776 Benign
53983 Q8TDX6 (CSGALNACT) P R 384 rs746391651 Disease: -
53984 Q8TDX6 (CSGALNACT) F Y 473 rs17128366 Benign
53985 Q8TDX7 (NEK7) R G 35 rs55833332 Benign
53986 Q8TDX9 (PKD1L1) V F 312 rs2686817 Benign
53987 Q8TDX9 (PKD1L1) D N 812 rs17131915 Benign
53988 Q8TDX9 (PKD1L1) T A 879 rs11972142 Benign
53989 Q8TDX9 (PKD1L1) V I 894 rs56100904 Benign
53990 Q8TDX9 (PKD1L1) V I 906 rs141681038 Benign
53991 Q8TDX9 (PKD1L1) R P 1053 rs10274334 Benign
53992 Q8TDX9 (PKD1L1) K E 1272 rs1470859 Benign
53993 Q8TDX9 (PKD1L1) C S 1691 rs886037834 Disease: Heterotaxy, visceral, 8, autosomal (HTX8) [MIM:617205]
53994 Q8TDX9 (PKD1L1) R H 2057 rs17131834 Benign
53995 Q8TDX9 (PKD1L1) E K 2410 rs2290386 Benign
53996 Q8TDX9 (PKD1L1) L F 2603 rs59848490 Benign
53997 Q8TDX9 (PKD1L1) A T 2685 rs13231277 Benign
53998 Q8TDY2 (RB1CC1) M T 234 rs17337252 Benign
53999 Q8TDY2 (RB1CC1) P L 708 rs34016926 Benign
54000 Q8TDY2 (RB1CC1) R K 1216 rs35534432 Benign
54001 Q8TDY2 (RB1CC1) N K 1314 rs34701924 Benign
54002 Q8TDY2 (RB1CC1) S F 1424 rs35342973 Benign
54003 Q8TDY3 (ACTRT2) G R 247 rs3795263 Benign
54004 Q8TDY4 (ASAP3) E A 377 rs16828486 Benign
54005 Q8TDY8 (IGDCC4) A P 52 rs34355056 Benign
54006 Q8TDY8 (IGDCC4) N S 301 rs12442757 Benign
54007 Q8TDY8 (IGDCC4) S C 803 rs1469778 Benign
54008 Q8TDY8 (IGDCC4) T A 1102 rs33918653 Benign
54009 Q8TDY8 (IGDCC4) C Y 1125 rs33918653 Benign
54010 Q8TDZ2 (MICAL1) A S 12 rs4946977 Benign
54011 Q8TDZ2 (MICAL1) A T 12 rs4946977 Benign
54012 Q8TDZ2 (MICAL1) D A 153 rs34726911 Benign
54013 Q8TDZ2 (MICAL1) R H 195 rs34699467 Benign
54014 Q8TDZ2 (MICAL1) R C 453 rs17854785 Benign
54015 Q8TDZ2 (MICAL1) A T 624 rs17850590 Benign
54016 Q8TDZ2 (MICAL1) A E 758 rs9320288 Benign
54017 Q8TDZ2 (MICAL1) A K 758 rs35260632 Benign
54018 Q8TDZ2 (MICAL1) A S 758 rs59056467 Benign
54019 Q8TDZ2 (MICAL1) A T 758 rs59056467 Benign
54020 Q8TE02 (ELP5) E K 14 rs2521988 Benign
54021 Q8TE02 (ELP5) D Y 303 rs17849664 Benign
54022 Q8TE23 (TAS1R2) S C 9 rs9701796 Benign
54023 Q8TE23 (TAS1R2) I V 191 rs35874116 Benign
54024 Q8TE23 (TAS1R2) R G 317 rs34447754 Benign
54025 Q8TE23 (TAS1R2) I V 486 rs28374389 Benign
54026 Q8TE23 (TAS1R2) A T 574 rs6662276 Benign
54027 Q8TE23 (TAS1R2) I T 595 rs41273167 Benign
54028 Q8TE23 (TAS1R2) R K 838 rs9988418 Benign
54029 Q8TE54 (SLC26A7) I V 215 rs16912250 Benign
54030 Q8TE54 (SLC26A7) V G 381 rs34921316 Benign
54031 Q8TE56 (ADAMTS17) S L 216 rs7496668 Benign
54032 Q8TE56 (ADAMTS17) M T 482 rs28567966 Benign
54033 Q8TE56 (ADAMTS17) R T 566 - Benign
54034 Q8TE56 (ADAMTS17) N S 1094 rs2573652 Benign
54035 Q8TE57 (ADAMTS16) M V 110 rs1863968 Benign
54036 Q8TE57 (ADAMTS16) A T 486 rs16875054 Benign
54037 Q8TE57 (ADAMTS16) R C 789 rs9313105 Benign
54038 Q8TE57 (ADAMTS16) R L 859 rs16875122 Benign
54039 Q8TE57 (ADAMTS16) E K 863 rs35394775 Benign
54040 Q8TE58 (ADAMTS15) N S 623 rs11222114 Benign
54041 Q8TE59 (ADAMTS19) E G 582 rs10062501 Benign
54042 Q8TE59 (ADAMTS19) Y F 1089 rs11749126 Benign
54043 Q8TE60 (ADAMTS18) S L 179 rs387906972 Benign
54044 Q8TE60 (ADAMTS18) Y H 191 rs11643211 Benign
54045 Q8TE60 (ADAMTS18) L P 202 rs397515468 Disease: Microcornea, myopic chorioretina l atrophy, and telecanthus (MMCAT) [MIM:615458]
54046 Q8TE60 (ADAMTS18) C W 577 rs148319220 Disease: Microcornea, myopic chorioretina l atrophy, and telecanthus (MMCAT) [MIM:615458]
54047 Q8TE60 (ADAMTS18) L I 626 rs11640912 Benign
54048 Q8TE60 (ADAMTS18) L I 769 rs9930984 Benign
54049 Q8TE60 (ADAMTS18) A S 946 rs12935394 Benign
54050 Q8TE60 (ADAMTS18) S R 1080 rs35478105 Benign
54051 Q8TE60 (ADAMTS18) S T 1159 rs3743749 Benign
54052 Q8TE67 (EPS8L3) M I 35 rs17598321 Benign
54053 Q8TE67 (EPS8L3) G S 163 rs6693815 Benign
54054 Q8TE67 (EPS8L3) H Y 293 rs3818562 Benign
54055 Q8TE67 (EPS8L3) P S 356 rs11102001 Benign
54056 Q8TE67 (EPS8L3) R Q 581 rs35072794 Benign
54057 Q8TE68 (EPS8L1) A T 4 rs12609976 Benign
54058 Q8TE68 (EPS8L1) R G 288 rs1620074 Benign
54059 Q8TE68 (EPS8L1) Q E 457 rs1628576 Benign
54060 Q8TE68 (EPS8L1) K R 669 rs1054940 Benign
54061 Q8TE68 (EPS8L1) L P 703 rs60073068 Benign
54062 Q8TE73 (DNAH5) H Q 12 rs339445 Benign
54063 Q8TE73 (DNAH5) G E 24 rs1530496 Benign
54064 Q8TE73 (DNAH5) T A 558 rs1530498 Benign
54065 Q8TE73 (DNAH5) L R 591 rs35090077 Benign
54066 Q8TE73 (DNAH5) L V 591 rs35090077 Benign
54067 Q8TE73 (DNAH5) Q K 620 rs34076967 Benign
54068 Q8TE73 (DNAH5) K N 765 rs4701997 Benign
54069 Q8TE73 (DNAH5) I L 766 rs4701997 Benign
54070 Q8TE73 (DNAH5) S G 1006 rs16902886 Benign
54071 Q8TE73 (DNAH5) M V 1081 rs16902880 Benign
54072 Q8TE73 (DNAH5) R Q 1454 rs542708170 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54073 Q8TE73 (DNAH5) R L 1716 rs74799487 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54074 Q8TE73 (DNAH5) S N 2264 rs78484669 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54075 Q8TE73 (DNAH5) E K 2347 - Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54076 Q8TE73 (DNAH5) R H 2425 rs35900306 Benign
54077 Q8TE73 (DNAH5) Q R 2463 rs10078391 Benign
54078 Q8TE73 (DNAH5) R P 2501 rs78853309 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54079 Q8TE73 (DNAH5) F S 2843 rs77377082 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54080 Q8TE73 (DNAH5) L F 2862 rs10513155 Benign
54081 Q8TE73 (DNAH5) A G 2881 rs727502973 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54082 Q8TE73 (DNAH5) W S 3409 rs755407407 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54083 Q8TE73 (DNAH5) G R 3519 rs79967166 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54084 Q8TE73 (DNAH5) D N 3605 - Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54085 Q8TE73 (DNAH5) T I 3791 rs17263496 Benign
54086 Q8TE73 (DNAH5) S L 3843 rs78346432 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54087 Q8TE73 (DNAH5) A V 4134 rs30168 Benign
54088 Q8TE73 (DNAH5) G V 4205 rs79185772 Disease: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
54089 Q8TE73 (DNAH5) T A 4220 rs2277046 Benign
54090 Q8TE73 (DNAH5) I V 4450 rs3734110 Benign
54091 Q8TE76 (MORC4) T I 473 rs6622126 Benign
54092 Q8TE76 (MORC4) R C 653 rs3827464 Benign
54093 Q8TE77 (SSH3) E V 239 rs7114712 Benign
54094 Q8TE77 (SSH3) R H 600 rs1573536 Benign
54095 Q8TE82 (SH3TC1) D N 291 rs1281138 Benign
54096 Q8TE82 (SH3TC1) L P 437 rs1281145 Benign
54097 Q8TE82 (SH3TC1) R C 785 rs1281149 Benign
54098 Q8TE85 (GRHL3) D E 55 rs2486668 Benign
54099 Q8TE85 (GRHL3) V A 160 rs34637004 Benign
54100 Q8TE85 (GRHL3) R H 298 rs752673677 Disease: Van der Woude syndrome 2 (VWS2) [MIM:606713]
54101 Q8TE85 (GRHL3) R C 391 rs879255245 Disease: Van der Woude syndrome 2 (VWS2) [MIM:606713]
54102 Q8TE85 (GRHL3) R Q 520 rs946439477 Disease: Van der Woude syndrome 2 (VWS2) [MIM:606713]
54103 Q8TEA7 (TBCK) R L 66 rs35784409 Benign
54104 Q8TEA7 (TBCK) I M 151 rs35835241 Benign
54105 Q8TEA7 (TBCK) D N 265 rs34770077 Benign
54106 Q8TEA7 (TBCK) Q E 266 rs3775091 Benign
54107 Q8TEA7 (TBCK) T M 425 rs34307452 Benign
54108 Q8TEA7 (TBCK) M I 471 rs34961213 Benign
54109 Q8TEA7 (TBCK) K N 489 rs2305685 Benign
54110 Q8TEA7 (TBCK) R H 511 rs869320711 Disease: Hypotonia, infantile, with psychomotor retardation and characterist ic facies 3 (IHPRF3) [MIM:616900]
54111 Q8TEA7 (TBCK) L P 551 - Disease: Hypotonia, infantile, with psychomotor retardation and characterist ic facies 3 (IHPRF3) [MIM:616900]
54112 Q8TEA7 (TBCK) R C 692 rs35790205 Benign
54113 Q8TEB1 (DCAF11) R H 207 rs3825584 Benign
54114 Q8TEB9 (RHBDD1) A T 110 rs35731955 Benign
54115 Q8TEC5 (SH3RF2) F S 16 rs34739859 Benign
54116 Q8TEC5 (SH3RF2) F V 174 rs34942619 Benign
54117 Q8TEC5 (SH3RF2) R C 267 rs758037 Benign
54118 Q8TEC5 (SH3RF2) R Q 477 rs35165046 Benign
54119 Q8TEC5 (SH3RF2) W R 592 rs2962525 Benign
54120 Q8TEC5 (SH3RF2) V I 687 rs11435 Benign
54121 Q8TEC5 (SH3RF2) G A 710 rs1056149 Benign
54122 Q8TED0 (UTP15) Y H 228 rs16870608 Benign
54123 Q8TED0 (UTP15) R S 332 rs35313343 Benign
54124 Q8TED0 (UTP15) T P 483 rs35898225 Benign
54125 Q8TED1 (GPX8) K R 182 rs381852 Benign
54126 Q8TED4 (SLC37A2) I V 96 rs55752830 Benign
54127 Q8TED4 (SLC37A2) G S 268 rs34485243 Benign
54128 Q8TEK3 (DOT1L) L M 726 rs880525 Benign
54129 Q8TEK3 (DOT1L) G S 1386 rs3815308 Benign
54130 Q8TEK3 (DOT1L) V L 1418 rs2302061 Benign
54131 Q8TEM1 (NUP210) A T 297 rs7628051 Benign
54132 Q8TEM1 (NUP210) I V 608 rs3732671 Benign
54133 Q8TEM1 (NUP210) A V 755 rs6795271 Benign
54134 Q8TEM1 (NUP210) R L 786 rs2280084 Benign
54135 Q8TEM1 (NUP210) P A 821 rs2280085 Benign
54136 Q8TEM1 (NUP210) A P 944 rs433032 Benign
54137 Q8TEM1 (NUP210) M I 1096 rs2271505 Benign
54138 Q8TEM1 (NUP210) D E 1430 rs13081937 Benign
54139 Q8TEM1 (NUP210) L S 1752 rs354479 Benign
54140 Q8TEM1 (NUP210) V M 1787 rs354478 Benign
54141 Q8TEP8 (CEP192) T A 1053 rs10048340 Benign
54142 Q8TEP8 (CEP192) Q P 1109 rs11080623 Benign
54143 Q8TEP8 (CEP192) V M 1365 rs2282542 Benign
54144 Q8TEP8 (CEP192) R H 1544 rs7228940 Benign
54145 Q8TEP8 (CEP192) S P 1552 rs578208 Benign
54146 Q8TEP8 (CEP192) L F 1701 rs6505780 Benign
54147 Q8TEP8 (CEP192) S N 2051 rs2027698 Benign
54148 Q8TEP8 (CEP192) L P 2121 rs474337 Benign
54149 Q8TEP8 (CEP192) K E 2271 rs3737379 Benign
54150 Q8TEP8 (CEP192) R L 2449 rs1786263 Benign
54151 Q8TEQ6 (GEMIN5) R Q 682 rs1974777 Benign
54152 Q8TEQ6 (GEMIN5) P S 1155 rs6865950 Benign
54153 Q8TEQ8 (PIGO) R W 119 rs757441073 Disease: Hyperphospha tasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
54154 Q8TEQ8 (PIGO) T N 130 - Disease: -
54155 Q8TEQ8 (PIGO) N S 370 rs1214104267 Disease: Hyperphospha tasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
54156 Q8TEQ8 (PIGO) L F 957 rs142164373 Disease: Hyperphospha tasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
54157 Q8TEQ8 (PIGO) K E 1047 - Disease: Hyperphospha tasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
54158 Q8TER0 (SNED1) L P 1228 rs17440466 Benign
54159 Q8TER0 (SNED1) R Q 1289 rs6721345 Benign
54160 Q8TER0 (SNED1) H R 1299 rs6708120 Benign
54161 Q8TER0 (SNED1) A S 1362 rs2108485 Benign
54162 Q8TER5 (ARHGEF40) V L 956 rs7143633 Benign
54163 Q8TER5 (ARHGEF40) L S 1189 rs1958396 Benign
54164 Q8TER5 (ARHGEF40) M T 1312 rs943992 Benign
54165 Q8TER5 (ARHGEF40) T P 1418 rs17855344 Benign
54166 Q8TES7 (FBF1) G V 65 rs1135889 Benign
54167 Q8TES7 (FBF1) R G 151 rs2305913 Benign
54168 Q8TES7 (FBF1) P S 371 rs7218738 Benign
54169 Q8TES7 (FBF1) C S 574 rs7213548 Benign
54170 Q8TET4 (GANC) L V 11 rs8043515 Benign
54171 Q8TET4 (GANC) Q R 44 rs8024732 Benign
54172 Q8TET4 (GANC) I M 153 rs75876980 Benign
54173 Q8TET4 (GANC) I V 166 rs16973015 Benign
54174 Q8TET4 (GANC) D E 443 rs2578652 Benign
54175 Q8TET4 (GANC) F S 845 rs7181742 Benign
54176 Q8TET4 (GANC) Q R 848 rs7180279 Benign
54177 Q8TEU7 (RAPGEF6) S A 570 rs3756293 Benign
54178 Q8TEU7 (RAPGEF6) A P 594 rs34112735 Benign
54179 Q8TEU7 (RAPGEF6) I V 1353 rs7717835 Benign
54180 Q8TEU7 (RAPGEF6) Q R 1452 rs1291602 Benign
54181 Q8TEU7 (RAPGEF6) V E 1559 rs1064539 Benign
54182 Q8TEU8 (WFIKKN2) R Q 31 rs55700534 Benign
54183 Q8TEU8 (WFIKKN2) V M 96 rs35300894 Benign
54184 Q8TEV9 (SMCR8) P L 524 rs8080966 Benign
54185 Q8TEV9 (SMCR8) R H 556 rs1563632 Benign
54186 Q8TEV9 (SMCR8) N S 636 rs12449313 Benign
54187 Q8TEW0 (PARD3) E D 107 rs1436731 Benign
54188 Q8TEW0 (PARD3) D N 575 rs3758459 Benign
54189 Q8TEW0 (PARD3) D G 783 rs1114167354 Disease: Neural tube defects (NTD) [MIM:182940]
54190 Q8TEW0 (PARD3) P Q 913 rs781461462 Disease: Neural tube defects (NTD) [MIM:182940]
54191 Q8TEW8 (PARD3B) L P 165 rs1510765 Benign
54192 Q8TEW8 (PARD3B) R K 192 rs2289025 Benign
54193 Q8TEW8 (PARD3B) Q K 295 rs1061522 Benign
54194 Q8TEW8 (PARD3B) K R 317 rs34751010 Benign
54195 Q8TEX9 (IPO4) A V 513 rs7146310 Benign
54196 Q8TEX9 (IPO4) P A 580 rs11550452 Benign
54197 Q8TEY5 (CREB3L4) P S 95 rs11264743 Benign
54198 Q8TF05 (PPP4R1) E K 43 rs1056191 Benign
54199 Q8TF05 (PPP4R1) I V 470 rs329003 Benign
54200 Q8TF05 (PPP4R1) S N 593 rs2306134 Benign
54201 Q8TF05 (PPP4R1) S N 595 rs2306134 Benign
54202 Q8TF08 (COX7B2) H Q 27 rs201505906 Benign
54203 Q8TF09 (DYNLRB2) H R 14 rs13332289 Benign
54204 Q8TF17 (SH3TC2) Y H 169 rs80359890 Disease: Mononeuropat hy of the median nerve mild (MNMN) [MIM:613353]
54205 Q8TF17 (SH3TC2) G E 171 rs17722293 Benign
54206 Q8TF17 (SH3TC2) A S 468 rs6875902 Benign
54207 Q8TF17 (SH3TC2) R Q 529 rs863224454 Disease: Charcot- Marie-Tooth disease 4C (CMT4C) [MIM:601596]
54208 Q8TF17 (SH3TC2) E K 657 rs80338925 Disease: Charcot- Marie-Tooth disease 4C (CMT4C) [MIM:601596]
54209 Q8TF17 (SH3TC2) R C 658 rs80338926 Disease: Charcot- Marie-Tooth disease 4C (CMT4C) [MIM:601596]
54210 Q8TF17 (SH3TC2) H R 696 rs17109261 Benign
54211 Q8TF21 (ANKRD24) A T 111 rs2052191 Benign
54212 Q8TF21 (ANKRD24) R Q 349 rs12978469 Benign
54213 Q8TF21 (ANKRD24) E K 585 rs10413818 Benign
54214 Q8TF21 (ANKRD24) S A 684 rs353693 Benign
54215 Q8TF27 (AGAP11) I V 82 rs2641563 Benign
54216 Q8TF30 (WHAMM) N S 212 rs35270670 Benign
54217 Q8TF30 (WHAMM) Q K 340 rs1055666 Benign
54218 Q8TF30 (WHAMM) R Q 345 rs1055667 Benign
54219 Q8TF30 (WHAMM) R H 686 rs3814281 Benign
54220 Q8TF30 (WHAMM) H P 736 rs11259953 Benign
54221 Q8TF30 (WHAMM) H Q 736 rs11259954 Benign
54222 Q8TF32 (ZNF431) D G 3 rs17445374 Benign
54223 Q8TF40 (FNIP1) G C 76 rs7730228 Benign
54224 Q8TF40 (FNIP1) S L 354 rs13177318 Benign
54225 Q8TF40 (FNIP1) Q R 648 rs26008 Benign
54226 Q8TF40 (FNIP1) V L 738 rs12109782 Benign
54227 Q8TF40 (FNIP1) I V 844 rs7717874 Benign
54228 Q8TF42 (UBASH3B) A T 68 rs12790613 Benign
54229 Q8TF42 (UBASH3B) N S 569 rs35343548 Benign
54230 Q8TF46 (DIS3L) I V 518 rs34668776 Benign
54231 Q8TF46 (DIS3L) D G 614 rs3803412 Benign
54232 Q8TF46 (DIS3L) N S 747 rs17258507 Benign
54233 Q8TF50 (ZNF526) V A 94 rs3810151 Benign
54234 Q8TF50 (ZNF526) S F 511 rs17850994 Benign
54235 Q8TF62 (ATP8B4) N S 225 rs16963151 Benign
54236 Q8TF62 (ATP8B4) H N 452 rs2452524 Benign
54237 Q8TF62 (ATP8B4) N K 1165 rs16962989 Benign
54238 Q8TF62 (ATP8B4) V G 1190 rs16962987 Benign
54239 Q8TF63 (DCANP1) T P 75 rs1031844 Benign
54240 Q8TF63 (DCANP1) N D 97 rs12520809 Benign
54241 Q8TF64 (GIPC3) G R 46 rs946085339 Disease: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
54242 Q8TF64 (GIPC3) M I 88 rs1214652710 Disease: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
54243 Q8TF64 (GIPC3) G D 94 rs763523474 Disease: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
54244 Q8TF64 (GIPC3) R C 189 rs387907002 Disease: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
54245 Q8TF64 (GIPC3) T I 221 rs761543680 Disease: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
54246 Q8TF64 (GIPC3) G D 256 rs387907001 Disease: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
54247 Q8TF64 (GIPC3) L R 262 rs387906999 Disease: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
54248 Q8TF65 (GIPC2) S F 61 rs17101180 Benign
54249 Q8TF65 (GIPC2) L P 206 rs540742 Benign
54250 Q8TF66 (LRRC15) V I 264 rs13060627 Benign
54251 Q8TF66 (LRRC15) P L 286 rs13070515 Benign
54252 Q8TF71 (SLC16A10) K Q 508 rs17072442 Benign
54253 Q8TF72 (SHROOM3) L H 147 rs3821979 Benign
54254 Q8TF72 (SHROOM3) G A 279 rs344140 Benign
54255 Q8TF72 (SHROOM3) P A 469 rs344141 Benign
54256 Q8TF72 (SHROOM3) P L 1290 rs3733242 Benign
54257 Q8TF76 (HASPIN) V E 76 rs11653889 Benign
54258 Q8TF76 (HASPIN) R C 82 rs9907144 Benign
54259 Q8TF76 (HASPIN) R H 145 rs55991903 Benign
54260 Q8TF76 (HASPIN) G D 204 rs220462 Benign
54261 Q8TF76 (HASPIN) G S 283 rs56224301 Benign
54262 Q8TF76 (HASPIN) Q L 301 rs55649477 Benign
54263 Q8TF76 (HASPIN) I T 328 rs220461 Benign
54264 Q8TF76 (HASPIN) V A 378 rs3809806 Benign
54265 Q8TF76 (HASPIN) N D 422 rs7223226 Benign
54266 Q8TF76 (HASPIN) M V 706 rs56134695 Benign
54267 Q8WTP8 (AEN) P L 15 rs3743477 Benign
54268 Q8WTP8 (AEN) S C 88 rs8026929 Benign
54269 Q8WTP8 (AEN) N D 140 rs8027765 Benign
54270 Q8WTQ1 (DEFB104A) I V 10 rs2680507 Benign
54271 Q8WTQ4 (C16orf78) R Q 152 rs16947350 Benign
54272 Q8WTQ7 (GRK7) R H 81 rs34429284 Benign
54273 Q8WTQ7 (GRK7) C W 113 rs56070798 Benign
54274 Q8WTQ7 (GRK7) S C 115 rs34769632 Benign
54275 Q8WTQ7 (GRK7) S T 127 rs35318124 Benign
54276 Q8WTQ7 (GRK7) V G 196 rs55707760 Benign
54277 Q8WTQ7 (GRK7) V M 196 rs56019094 Benign
54278 Q8WTQ7 (GRK7) R W 226 rs35566288 Benign
54279 Q8WTQ7 (GRK7) E Q 309 rs55824414 Benign
54280 Q8WTQ7 (GRK7) V I 313 rs56076641 Benign
54281 Q8WTQ7 (GRK7) E G 443 rs36009541 Benign
54282 Q8WTQ7 (GRK7) P T 460 rs33928105 Benign
54283 Q8WTQ7 (GRK7) R C 461 rs36004830 Benign
54284 Q8WTR2 (DUSP19) S R 216 rs16823987 Benign
54285 Q8WTR4 (GDPD5) A T 480 rs571353 Benign
54286 Q8WTR7 (ZNF473) S G 59 rs10419876 Benign
54287 Q8WTR7 (ZNF473) S G 74 rs10419911 Benign
54288 Q8WTR7 (ZNF473) T M 164 rs16981705 Benign
54289 Q8WTR7 (ZNF473) E G 309 rs16981706 Benign
54290 Q8WTR7 (ZNF473) T I 654 rs10424809 Benign
54291 Q8WTR7 (ZNF473) S A 662 rs10426374 Benign
54292 Q8WTS1 (ABHD5) E K 7 rs104893676 Disease: Chanarin- Dorfman syndrome (CDS) [MIM:275630]
54293 Q8WTS1 (ABHD5) I T 72 rs2302349 Benign
54294 Q8WTS1 (ABHD5) H R 82 rs145548259 Benign
54295 Q8WTS1 (ABHD5) S G 115 - Disease: Chanarin- Dorfman syndrome (CDS) [MIM:275630]
54296 Q8WTS1 (ABHD5) Q P 130 rs28939077 Disease: Chanarin- Dorfman syndrome (CDS) [MIM:275630]
54297 Q8WTS1 (ABHD5) E K 260 rs28939078 Disease: Chanarin- Dorfman syndrome (CDS) [MIM:275630]
54298 Q8WTT2 (NOC3L) P L 194 rs12572897 Benign
54299 Q8WTT2 (NOC3L) P R 444 rs11187895 Benign
54300 Q8WTT2 (NOC3L) E A 472 rs3758526 Benign
54301 Q8WTT2 (NOC3L) R I 504 rs11187892 Benign
54302 Q8WTT2 (NOC3L) T S 655 rs12259382 Benign
54303 Q8WTT2 (NOC3L) A T 695 rs17517578 Benign
54304 Q8WTU0 (DDI1) G S 136 rs7102675 Benign
54305 Q8WTU0 (DDI1) S G 142 rs17856633 Benign
54306 Q8WTU0 (DDI1) G E 239 rs17851870 Benign
54307 Q8WTU2 (SSC4D) R H 128 rs4728712 Benign
54308 Q8WTV0 (SCARB1) G S 2 rs4238001 Benign
54309 Q8WTV0 (SCARB1) V I 135 rs5891 Benign
54310 Q8WTV0 (SCARB1) G S 167 rs199588922 Benign
54311 Q8WTV0 (SCARB1) S G 229 rs10396213 Benign
54312 Q8WTV0 (SCARB1) P S 297 rs387906791 Benign
54313 Q8WTV0 (SCARB1) P L 376 rs74830677 Benign
54314 Q8WTV0 (SCARB1) C R 511 rs2293440 Benign
54315 Q8WTW3 (COG1) M L 357 rs4375725 Benign
54316 Q8WTW3 (COG1) N S 392 rs1026128 Benign
54317 Q8WTW3 (COG1) Y C 744 rs7208207 Benign
54318 Q8WTW4 (NPRL2) L P 105 rs886037965 Disease: Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116]
54319 Q8WTX9 (ZDHHC1) R Q 124 rs34229857 Benign
54320 Q8WU03 (GLYATL2) P S 82 rs17856514 Benign
54321 Q8WU03 (GLYATL2) E K 160 rs11229651 Benign
54322 Q8WU03 (GLYATL2) L I 168 rs17851433 Benign
54323 Q8WU08 (STK32A) K M 58 rs35852718 Benign
54324 Q8WU10 (PYROXD1) N S 155 rs781565158 Disease: Myopathy, myofibrillar , 8 (MFM8) [MIM:617258]
54325 Q8WU10 (PYROXD1) Q H 372 rs755208949 Disease: Myopathy, myofibrillar , 8 (MFM8) [MIM:617258]
54326 Q8WU20 (FRS2) K N 303 rs12580717 Benign
54327 Q8WU20 (FRS2) N D 449 rs35232109 Benign
54328 Q8WU58 (FAM222B) L S 471 rs2043031 Benign
54329 Q8WU58 (FAM222B) G S 542 rs36029715 Benign
54330 Q8WU67 (ABHD3) R C 3 rs17851878 Benign
54331 Q8WU76 (SCFD2) L S 512 rs7675987 Benign
54332 Q8WU79 (SMAP2) A T 289 rs34845213 Benign
54333 Q8WU90 (ZC3H15) V E 342 rs11555006 Benign
54334 Q8WU90 (ZC3H15) T P 408 rs1043497 Benign
54335 Q8WUA8 (TSKU) R C 208 rs3740772 Benign
54336 Q8WUA8 (TSKU) S N 248 rs11236938 Benign
54337 Q8WUA8 (TSKU) V I 308 rs3740771 Benign
54338 Q8WUA8 (TSKU) D E 344 rs1149621 Benign
54339 Q8WUB2 (FAM216A) R G 225 rs17188964 Benign
54340 Q8WUD1 (RAB2B) N T 212 rs17106411 Benign
54341 Q8WUD6 (CHPT1) F S 162 rs3205421 Benign
54342 Q8WUF8 (FAM172A) S N 131 rs17083426 Benign
54343 Q8WUH2 (TGFBRAP1) H R 725 rs2241797 Benign
54344 Q8WUJ3 (CEMIP) R C 187 rs368854657 Benign
54345 Q8WUJ3 (CEMIP) R H 187 rs144446375 Benign
54346 Q8WUJ3 (CEMIP) H R 783 rs12441101 Benign
54347 Q8WUJ3 (CEMIP) H Y 783 rs996035812 Benign
54348 Q8WUJ3 (CEMIP) V I 1109 rs751807711 Benign
54349 Q8WUJ3 (CEMIP) P A 1169 rs16972583 Benign
54350 Q8WUM0 (NUP133) T P 106 rs428231 Benign
54351 Q8WUM0 (NUP133) R G 231 - Disease: Nephrotic syndrome 18 (NPHS18) [MIM:618177]
54352 Q8WUM0 (NUP133) I V 294 rs11805194 Benign
54353 Q8WUM0 (NUP133) Q R 406 rs1065674 Benign
54354 Q8WUM0 (NUP133) S R 974 - Disease: Nephrotic syndrome 18 (NPHS18) [MIM:618177]
54355 Q8WUM0 (NUP133) L S 1055 rs376476266 Disease: Nephrotic syndrome 18 (NPHS18) [MIM:618177]
54356 Q8WUM4 (PDCD6IP) V M 7 rs11554560 Benign
54357 Q8WUM4 (PDCD6IP) A T 309 rs3792594 Benign
54358 Q8WUM4 (PDCD6IP) V I 378 rs3203777 Benign
54359 Q8WUM4 (PDCD6IP) G S 429 rs76608858 Benign
54360 Q8WUM4 (PDCD6IP) N S 550 rs9813017 Benign
54361 Q8WUM4 (PDCD6IP) K E 638 rs3183982 Benign
54362 Q8WUM4 (PDCD6IP) S L 730 rs1127732 Benign
54363 Q8WUN7 (UBTD2) M I 129 rs17074452 Benign
54364 Q8WUP2 (FBLIM1) R C 39 rs34375304 Benign
54365 Q8WUP2 (FBLIM1) S F 191 rs10927851 Benign
54366 Q8WUR7 (C15orf40) A T 89 rs376937425 Benign
54367 Q8WUS8 (SDR42E1) S T 10 rs6564956 Benign
54368 Q8WUS8 (SDR42E1) K E 96 rs16956174 Benign
54369 Q8WUS8 (SDR42E1) G D 320 rs3813012 Benign
54370 Q8WUT4 (LRRN4) P L 138 rs6107751 Benign
54371 Q8WUT4 (LRRN4) T A 141 rs1884643 Benign
54372 Q8WUT9 (SLC25A43) P L 334 rs3810755 Benign
54373 Q8WUU5 (GATAD1) G S 54 rs10281879 Benign
54374 Q8WUU5 (GATAD1) S P 102 rs387907188 Disease: Cardiomyopat hy, dilated 2B (CMD2B) [MIM:614672]
54375 Q8WUU5 (GATAD1) R W 233 rs34768413 Benign
54376 Q8WUX1 (SLC38A5) M T 451 rs17281188 Benign
54377 Q8WUX2 (CHAC2) R G 82 rs17851583 Benign
54378 Q8WUY1 (THEM6) E Q 93 rs17851711 Benign
54379 Q8WUY3 (PRUNE2) E K 806 rs375315668 Benign
54380 Q8WUY9 (DEPDC1B) R M 332 rs17856590 Benign
54381 Q8WUY9 (DEPDC1B) V L 395 rs17851707 Benign
54382 Q8WV07 (LTO1) G S 3 rs56107468 Benign
54383 Q8WV16 (DCAF4) W C 22 rs2302588 Benign
54384 Q8WV16 (DCAF4) K T 193 rs17856582 Benign
54385 Q8WV16 (DCAF4) N S 266 rs7155812 Benign
54386 Q8WV16 (DCAF4) L F 334 rs17856583 Benign
54387 Q8WV16 (DCAF4) S C 345 rs3815460 Benign
54388 Q8WV16 (DCAF4) R I 439 rs17856584 Benign
54389 Q8WV19 (SFT2D1) I V 109 rs11551053 Benign
54390 Q8WV22 (NSMCE1) T R 38 rs7195194 Benign
54391 Q8WV22 (NSMCE1) N S 47 rs17856580 Benign
54392 Q8WV35 (LRRC29) R Q 75 rs3743728 Benign
54393 Q8WV35 (LRRC29) G S 117 rs34595673 Benign
54394 Q8WV37 (ZNF480) P S 177 rs13343641 Benign
54395 Q8WV44 (TRIM41) A T 78 rs6601178 Benign
54396 Q8WV44 (TRIM41) D G 438 rs2241371 Benign
54397 Q8WV48 (CCDC107) S F 190 rs2275420 Benign
54398 Q8WV48 (CCDC107) I V 220 rs1339374 Benign
54399 Q8WV48 (CCDC107) S C 242 rs10441685 Benign
54400 Q8WVB3 (HEXD) I V 145 rs4789773 Benign
54401 Q8WVB3 (HEXD) H Y 232 rs17853433 Benign
54402 Q8WVB6 (CHTF18) S F 63 rs2277902 Benign
54403 Q8WVB6 (CHTF18) Q P 82 rs2277901 Benign
54404 Q8WVB6 (CHTF18) K R 244 rs3765263 Benign
54405 Q8WVB6 (CHTF18) A S 466 rs34595992 Benign
54406 Q8WVB6 (CHTF18) P L 928 rs2294451 Benign
54407 Q8WVC6 (DCAKD) N I 84 rs17850104 Benign
54408 Q8WVD3 (RNF138) K R 81 rs7229690 Benign
54409 Q8WVE0 (EEF1AKMT1) T N 193 rs11549810 Benign
54410 Q8WVE6 (TMEM171) F L 23 rs638333 Benign
54411 Q8WVE6 (TMEM171) R G 86 rs637450 Benign
54412 Q8WVE6 (TMEM171) N K 139 rs636926 Benign
54413 Q8WVF1 (OSCP1) P R 31 rs11547025 Benign
54414 Q8WVF1 (OSCP1) T A 141 rs34409118 Benign
54415 Q8WVF1 (OSCP1) K E 242 rs2359016 Benign
54416 Q8WVJ9 (TWIST2) E A 75 rs796065048 Disease: Barber-Say syndrome (BBRSAY) [MIM:209885]
54417 Q8WVJ9 (TWIST2) E K 75 rs796065049 Disease: Ablepharon- macrostomia syndrome (AMS) [MIM:200110]
54418 Q8WVJ9 (TWIST2) E Q 75 rs796065049 Disease: Barber-Say syndrome (BBRSAY) [MIM:209885]
54419 Q8WVJ9 (TWIST2) L P 109 - Disease: Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260]
54420 Q8WVK2 (SNRNP27) T I 81 - Benign
54421 Q8WVK2 (SNRNP27) S F 114 - Benign
54422 Q8WVM0 (TFB1M) A P 120 rs144355958 Benign
54423 Q8WVM0 (TFB1M) T A 211 rs769497533 Benign
54424 Q8WVM0 (TFB1M) R Q 256 rs73579353 Benign
54425 Q8WVM7 (STAG1) Q R 214 rs1553738694 Disease: Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
54426 Q8WVM7 (STAG1) R G 216 rs1553738686 Disease: Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
54427 Q8WVM7 (STAG1) H R 220 rs1057519153 Disease: Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
54428 Q8WVM7 (STAG1) K Q 333 rs1553728634 Disease: Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
54429 Q8WVM7 (STAG1) L W 351 rs1553727865 Disease: Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
54430 Q8WVM7 (STAG1) R Q 373 rs1376334317 Disease: Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
54431 Q8WVM7 (STAG1) H P 478 rs1553722309 Disease: Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
54432 Q8WVM7 (STAG1) K R 979 rs1471479119 Disease: Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
54433 Q8WVM7 (STAG1) Q H 1132 rs34149860 Benign
54434 Q8WVM8 (SCFD1) K R 63 rs229150 Benign
54435 Q8WVP5 (TNFAIP8L1) A V 118 rs17851549 Benign
54436 Q8WVP7 (LMBR1) T A 228 rs6957768 Benign
54437 Q8WVQ1 (CANT1) D E 112 rs749246739 Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54438 Q8WVQ1 (CANT1) W C 125 rs587776898 Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54439 Q8WVQ1 (CANT1) M T 165 - Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54440 Q8WVQ1 (CANT1) L P 224 rs150181226 Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54441 Q8WVQ1 (CANT1) V M 226 rs377546036 Disease: Epiphyseal dysplasia, multiple, 7 (EDM7) [MIM:617719]
54442 Q8WVQ1 (CANT1) P L 299 rs267606700 Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54443 Q8WVQ1 (CANT1) R C 300 rs267606701 Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54444 Q8WVQ1 (CANT1) R H 300 rs267606699 Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54445 Q8WVQ1 (CANT1) S R 303 - Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54446 Q8WVQ1 (CANT1) A T 323 rs9903215 Benign
54447 Q8WVQ1 (CANT1) A D 360 rs387907081 Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54448 Q8WVQ1 (CANT1) I N 374 - Disease: Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
54449 Q8WVQ1 (CANT1) G E 391 rs34082669 Benign
54450 Q8WVR3 (MAP11) R H 295 rs2293477 Benign
54451 Q8WVS4 (WDR60) E G 91 rs17837851 Benign
54452 Q8WVS4 (WDR60) Q R 273 rs2788478 Benign
54453 Q8WVS4 (WDR60) T M 749 rs587777065 Disease: Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) [MIM:615503]
54454 Q8WVT3 (TRAPPC12) S G 301 rs11686212 Benign
54455 Q8WVV4 (POF1B) P S 207 rs363766 Benign
54456 Q8WVV4 (POF1B) C S 239 rs147563033 Benign
54457 Q8WVV4 (POF1B) E A 296 rs363751 Benign
54458 Q8WVV4 (POF1B) M V 323 rs363775 Benign
54459 Q8WVV4 (POF1B) R Q 329 rs75398746 Disease: Premature ovarian failure 2B (POF2B) [MIM:300604]
54460 Q8WVV4 (POF1B) M L 349 rs363774 Benign
54461 Q8WVV4 (POF1B) Q K 434 rs139385491 Benign
54462 Q8WVV4 (POF1B) C Y 444 rs768162591 Benign
54463 Q8WVV5 (BTN2A2) P S 479 rs16891646 Benign
54464 Q8WVX3 (C4orf3) R Q 17 rs17851522 Benign
54465 Q8WVX3 (C4orf3) P H 32 rs11544530 Benign
54466 Q8WVX9 (FAR1) E K 96 rs12793516 Benign
54467 Q8WVX9 (FAR1) D G 365 rs724159963 Disease: Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD) [MIM:616154]
54468 Q8WVZ1 (ZDHHC19) G A 66 rs13315830 Benign
54469 Q8WW01 (TSEN15) G D 19 rs2274432 Benign
54470 Q8WW01 (TSEN15) Q H 59 rs1046934 Benign
54471 Q8WW01 (TSEN15) W G 76 rs730882223 Disease: Pontocerebel lar hypoplasia 2F (PCH2F) [MIM:617026]
54472 Q8WW01 (TSEN15) H Y 116 rs879253780 Disease: Pontocerebel lar hypoplasia 2F (PCH2F) [MIM:617026]
54473 Q8WW01 (TSEN15) Y C 152 rs879253779 Disease: Pontocerebel lar hypoplasia 2F (PCH2F) [MIM:617026]
54474 Q8WW14 (C10orf82) T M 124 rs11551267 Benign
54475 Q8WW18 (C17orf50) D E 22 rs4795087 Benign
54476 Q8WW22 (DNAJA4) H R 226 rs17852881 Benign
54477 Q8WW24 (TEKT4) T M 83 rs4854235 Benign
54478 Q8WW24 (TEKT4) S G 100 rs11164112 Benign
54479 Q8WW24 (TEKT4) K N 102 rs17802433 Benign
54480 Q8WW24 (TEKT4) N K 409 rs17120062 Benign
54481 Q8WW27 (APOBEC4) S F 75 rs16861394 Benign
54482 Q8WW27 (APOBEC4) F S 271 rs1174658 Benign
54483 Q8WW27 (APOBEC4) P S 275 rs10911391 Benign
54484 Q8WW27 (APOBEC4) D G 300 rs16861381 Benign
54485 Q8WW27 (APOBEC4) K E 331 rs1174657 Benign
54486 Q8WW27 (APOBEC4) V M 345 rs10911390 Benign
54487 Q8WW32 (HMGB4) K R 59 rs11542686 Benign
54488 Q8WW32 (HMGB4) E A 92 rs10379 Benign
54489 Q8WW32 (HMGB4) Y H 170 rs57068937 Benign
54490 Q8WW38 (ZFPM2) E G 30 rs121908601 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
54491 Q8WW38 (ZFPM2) I V 227 rs202204708 Disease: Conotruncal heart malformation s (CTHM) [MIM:217095]
54492 Q8WW38 (ZFPM2) R Q 260 rs200834568 Disease: 46,XY sex reversal 9 (SRXY9) [MIM:616067]
54493 Q8WW38 (ZFPM2) S R 402 rs606231252 Disease: 46,XY sex reversal 9 (SRXY9) [MIM:616067]
54494 Q8WW38 (ZFPM2) A G 403 rs11993776 Benign
54495 Q8WW38 (ZFPM2) M I 544 rs187043152 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
54496 Q8WW38 (ZFPM2) S G 657 rs28374544 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
54497 Q8WW38 (ZFPM2) E D 782 rs2920048 Benign
54498 Q8WW38 (ZFPM2) A V 1055 rs16873741 Benign
54499 Q8WW43 (APH1B) F L 217 rs1047552 Benign
54500 Q8WW52 (FAM151A) D N 51 rs17399297 Benign
54501 Q8WW52 (FAM151A) N D 87 rs17856620 Benign
54502 Q8WW52 (FAM151A) I T 119 rs17851843 Benign
54503 Q8WW52 (FAM151A) A V 416 rs1368883 Benign
54504 Q8WW52 (FAM151A) G A 526 rs11206394 Benign
54505 Q8WW52 (FAM151A) G D 546 rs2289015 Benign
54506 Q8WW59 (SPRYD4) M T 50 rs2657881 Benign
54507 Q8WWA0 (ITLN1) V D 109 rs2274907 Benign
54508 Q8WWA0 (ITLN1) R P 313 rs8144 Benign
54509 Q8WWB5 (PIH1D2) A V 117 rs1425917 Benign
54510 Q8WWB7 (GLMP) V I 94 rs1570805 Benign
54511 Q8WWB7 (GLMP) P S 203 rs10908496 Benign
54512 Q8WWB7 (GLMP) I V 223 rs10908495 Benign
54513 Q8WWC4 (MAIP1) L I 290 rs2118548 Benign
54514 Q8WWF3 (SSMEM1) R W 88 rs4728190 Benign
54515 Q8WWF5 (ZNRF4) P S 37 rs2240743 Benign
54516 Q8WWF5 (ZNRF4) R Q 78 rs2240744 Benign
54517 Q8WWF5 (ZNRF4) V I 100 rs2240745 Benign
54518 Q8WWF5 (ZNRF4) A S 157 rs8103406 Benign
54519 Q8WWF5 (ZNRF4) V A 159 rs8107825 Benign
54520 Q8WWF5 (ZNRF4) R C 163 rs8104246 Benign
54521 Q8WWF5 (ZNRF4) R H 163 rs17304380 Benign
54522 Q8WWF5 (ZNRF4) D N 192 rs16992985 Benign
54523 Q8WWF6 (DNAJB3) D E 85 rs34622615 Benign
54524 Q8WWF6 (DNAJB3) D E 98 rs34150486 Benign
54525 Q8WWF8 (CAPSL) R Q 85 rs1445898 Benign
54526 Q8WWF8 (CAPSL) M V 201 rs1345826 Benign
54527 Q8WWG9 (KCNE4) G S 98 rs13409084 Benign
54528 Q8WWG9 (KCNE4) D E 196 rs12621643 Benign
54529 Q8WWH4 (ASZ1) K T 216 rs1029396 Benign
54530 Q8WWH5 (TRUB1) E A 103 rs34393297 Benign
54531 Q8WWH5 (TRUB1) R K 167 rs7099565 Benign
54532 Q8WWI1 (LMO7) P Q 1547 rs7988661 Benign
54533 Q8WWI5 (SLC44A1) S A 644 rs3199966 Benign
54534 Q8WWK9 (CKAP2) M K 236 rs35975899 Benign
54535 Q8WWK9 (CKAP2) I V 323 rs7335867 Benign
54536 Q8WWL7 (CCNB3) G R 1001 rs6614336 Benign
54537 Q8WWN8 (ARAP3) D H 218 rs1031904 Benign
54538 Q8WWN9 (IPCEF1) S P 194 rs1060390 Benign
54539 Q8WWP7 (GIMAP1) R S 254 rs7811263 Benign
54540 Q8WWQ0 (PHIP) V G 663 rs7747479 Benign
54541 Q8WWQ0 (PHIP) T I 874 rs11547228 Benign
54542 Q8WWQ0 (PHIP) L P 1093 rs9350797 Benign
54543 Q8WWQ0 (PHIP) T P 1135 rs34841569 Benign
54544 Q8WWQ0 (PHIP) N T 1445 rs36048894 Benign
54545 Q8WWQ2 (HPSE2) A T 315 rs17110744 Benign
54546 Q8WWQ2 (HPSE2) Y F 579 rs10883100 Benign
54547 Q8WWQ8 (STAB2) I V 110 rs17034186 Benign
54548 Q8WWQ8 (STAB2) E K 306 rs12319476 Benign
54549 Q8WWQ8 (STAB2) P H 510 rs1609860 Benign
54550 Q8WWQ8 (STAB2) R Q 787 rs17034336 Benign
54551 Q8WWQ8 (STAB2) R H 881 rs7973658 Benign
54552 Q8WWQ8 (STAB2) N T 1736 rs17034433 Benign
54553 Q8WWQ8 (STAB2) P T 2039 rs7306642 Benign
54554 Q8WWQ8 (STAB2) L V 2401 rs2271637 Benign
54555 Q8WWQ8 (STAB2) Y S 2519 rs3751197 Benign
54556 Q8WWR8 (NEU4) G R 301 rs11545301 Benign
54557 Q8WWT9 (SLC13A3) A D 254 - Disease: Leukoencepha lopathy, acute reversible, with increased urinary alpha-ketogl utarate (ARLIAK) [MIM:618384]
54558 Q8WWT9 (SLC13A3) G S 548 - Disease: Leukoencepha lopathy, acute reversible, with increased urinary alpha-ketogl utarate (ARLIAK) [MIM:618384]
54559 Q8WWU5 (TCP11) G A 253 rs2234045 Benign
54560 Q8WWU5 (TCP11) R Q 429 rs2234051 Benign
54561 Q8WWU7 (ITLN2) R H 103 rs6680969 Benign
54562 Q8WWU7 (ITLN2) Q R 171 rs12090411 Benign
54563 Q8WWV3 (RTN4IP1) R H 103 rs372054380 Disease: Optic atrophy 10 with or without ataxia, mental retardation, and seizures (OPA10) [MIM:616732]
54564 Q8WWW8 (GAB3) P S 237 rs17281349 Benign
54565 Q8WWX8 (SLC5A11) T P 47 rs36048966 Benign
54566 Q8WWX8 (SLC5A11) V A 182 rs11074656 Benign
54567 Q8WWX8 (SLC5A11) F L 258 rs35993597 Benign
54568 Q8WWX8 (SLC5A11) Q R 452 rs17854935 Benign
54569 Q8WWX8 (SLC5A11) M I 526 - Benign
54570 Q8WWX8 (SLC5A11) V M 539 rs35038575 Benign
54571 Q8WWY3 (PRPF31) A E 194 rs119475043 Disease: Retinitis pigmentosa 11 (RP11) [MIM:600138]
54572 Q8WWY3 (PRPF31) A P 216 rs119475042 Disease: Retinitis pigmentosa 11 (RP11) [MIM:600138]
54573 Q8WWY6 (MBD3L1) R C 190 rs2972588 Benign
54574 Q8WWY8 (LIPH) W R 108 rs267607219 Disease: Woolly hair autosomal recessive 2 (ARWH2) [MIM:604379]
54575 Q8WWZ1 (IL1F10) I T 44 rs6761276 Benign
54576 Q8WWZ1 (IL1F10) A D 51 rs6743376 Benign
54577 Q8WWZ3 (EDARADD) M I 9 rs966365 Benign
54578 Q8WWZ3 (EDARADD) S F 103 rs114632254 Benign
54579 Q8WWZ3 (EDARADD) D Y 114 - Disease: Ectodermal dysplasia 11A, hypohidrotic /hair/nail type, autosomal dominant (ECTD11A) [MIM:614940]
54580 Q8WWZ3 (EDARADD) L R 122 rs121908116 Disease: Ectodermal dysplasia 11A, hypohidrotic /hair/nail type, autosomal dominant (ECTD11A) [MIM:614940]
54581 Q8WWZ3 (EDARADD) E K 152 rs74315309 Disease: Ectodermal dysplasia 11B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD11B) [MIM:614941]
54582 Q8WWZ4 (ABCA10) P S 203 rs9909216 Benign
54583 Q8WWZ4 (ABCA10) I V 287 rs11657804 Benign
54584 Q8WWZ4 (ABCA10) M T 916 rs4968849 Benign
54585 Q8WWZ4 (ABCA10) R W 1322 rs10491178 Benign
54586 Q8WWZ7 (ABCA5) Q K 93 rs12383 Benign
54587 Q8WWZ7 (ABCA5) A T 178 rs11544715 Benign
54588 Q8WWZ7 (ABCA5) Q R 484 rs17686569 Benign
54589 Q8WWZ7 (ABCA5) M V 753 rs9898003 Benign
54590 Q8WWZ7 (ABCA5) A S 832 rs536009 Benign
54591 Q8WWZ7 (ABCA5) M V 960 rs557491 Benign
54592 Q8WWZ7 (ABCA5) D G 1260 rs11544716 Benign
54593 Q8WWZ8 (OIT3) S P 237 rs35089256 Benign
54594 Q8WX39 (LCN9) H Y 65 rs12352552 Benign
54595 Q8WX39 (LCN9) C F 90 rs7875283 Benign
54596 Q8WX93 (PALLD) M I 224 rs7671781 Benign
54597 Q8WX93 (PALLD) M T 224 rs7655494 Benign
54598 Q8WX94 (NLRP7) V I 319 rs775882 Benign
54599 Q8WX94 (NLRP7) L R 398 rs104895548 Disease: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
54600 Q8WX94 (NLRP7) G E 487 rs775881 Benign
54601 Q8WX94 (NLRP7) P S 651 rs104895549 Disease: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
54602 Q8WX94 (NLRP7) R P 693 rs104895502 Disease: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
54603 Q8WX94 (NLRP7) R Q 693 rs104895502 Disease: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
54604 Q8WX94 (NLRP7) R W 693 rs104895506 Disease: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
54605 Q8WX94 (NLRP7) P A 716 rs104895550 Disease: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
54606 Q8WX94 (NLRP7) R W 721 rs104895525 Disease: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
54607 Q8WX94 (NLRP7) C Y 761 rs104895552 Disease: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
54608 Q8WX94 (NLRP7) N S 913 rs104895503 Disease: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
54609 Q8WX94 (NLRP7) T A 971 rs7256020 Benign
54610 Q8WXA2 (PATE1) V I 46 rs537916 Benign
54611 Q8WXA2 (PATE1) Q R 47 rs2114084 Benign
54612 Q8WXA3 (RUFY2) C S 573 rs11816774 Benign
54613 Q8WXA8 (HTR3C) N K 163 rs6766410 Benign
54614 Q8WXA8 (HTR3C) G A 405 rs6807362 Benign
54615 Q8WXB1 (METTL21A) T I 192 rs2551949 Benign
54616 Q8WXB4 (ZNF606) S G 141 rs11673029 Benign
54617 Q8WXD0 (RXFP2) T P 222 rs121918303 Disease: Cryptorchidi sm (CRYPTO) [MIM:219050]
54618 Q8WXD0 (RXFP2) I V 604 rs17076657 Benign
54619 Q8WXD2 (SCG3) S N 125 rs2305710 Benign
54620 Q8WXD2 (SCG3) V A 167 rs17851186 Benign
54621 Q8WXD2 (SCG3) M V 233 rs35664837 Benign
54622 Q8WXD5 (GEMIN6) G D 140 rs1056104 Benign
54623 Q8WXE0 (CASKIN2) E G 891 rs7503373 Benign
54624 Q8WXE1 (ATRIP) K Q 125 rs11925638 Benign
54625 Q8WXE1 (ATRIP) P L 240 rs35240314 Benign
54626 Q8WXE9 (STON2) S P 307 rs3813535 Benign
54627 Q8WXE9 (STON2) R H 646 rs34323725 Benign
54628 Q8WXE9 (STON2) T A 694 rs35689202 Benign
54629 Q8WXE9 (STON2) S A 851 rs2241621 Benign
54630 Q8WXF7 (ATL1) D E 43 rs17850684 Benign
54631 Q8WXF7 (ATL1) E Q 66 rs200314808 Disease: Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708]
54632 Q8WXF7 (ATL1) R Q 118 rs606231265 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54633 Q8WXF7 (ATL1) Q E 154 - Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54634 Q8WXF7 (ATL1) L W 157 rs119476051 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54635 Q8WXF7 (ATL1) A P 161 - Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54636 Q8WXF7 (ATL1) F C 193 rs17850683 Benign
54637 Q8WXF7 (ATL1) R Q 217 rs119476049 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54638 Q8WXF7 (ATL1) R C 239 rs119476046 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54639 Q8WXF7 (ATL1) H P 247 - Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54640 Q8WXF7 (ATL1) V I 253 rs864622520 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54641 Q8WXF7 (ATL1) H R 258 rs119476048 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54642 Q8WXF7 (ATL1) S Y 259 rs119476047 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54643 Q8WXF7 (ATL1) N K 355 - Disease: Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708]
54644 Q8WXF7 (ATL1) M V 408 rs28939094 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54645 Q8WXF7 (ATL1) F V 413 - Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54646 Q8WXF7 (ATL1) R Q 415 rs397514712 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54647 Q8WXF7 (ATL1) R W 415 rs119476050 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54648 Q8WXF7 (ATL1) R C 416 rs387906941 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54649 Q8WXF7 (ATL1) N T 440 - Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54650 Q8WXF7 (ATL1) R W 495 rs864622269 Disease: Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
54651 Q8WXG1 (RSAD2) L R 42 rs17851586 Benign
54652 Q8WXG1 (RSAD2) V I 52 rs2305257 Benign
54653 Q8WXG6 (MADD) P T 696 rs17854007 Benign
54654 Q8WXG6 (MADD) V M 751 rs1051006 Benign
54655 Q8WXG6 (MADD) R Q 765 rs3736101 Benign
54656 Q8WXG6 (MADD) R G 968 rs17854008 Benign
54657 Q8WXG6 (MADD) L F 1040 rs17854009 Benign
54658 Q8WXG6 (MADD) L P 1518 rs34534575 Benign
54659 Q8WXG8 (S100Z) E A 23 rs1320308 Benign
54660 Q8WXG9 (ADGRV1) L R 127 rs41311333 Benign
54661 Q8WXG9 (ADGRV1) R K 249 rs41303344 Benign
54662 Q8WXG9 (ADGRV1) V A 551 rs6889939 Benign
54663 Q8WXG9 (ADGRV1) L F 1093 rs2366777 Benign
54664 Q8WXG9 (ADGRV1) I V 1187 rs16868935 Benign
54665 Q8WXG9 (ADGRV1) T I 1916 rs35791889 Benign
54666 Q8WXG9 (ADGRV1) T M 1927 rs17544552 Benign
54667 Q8WXG9 (ADGRV1) V I 1951 rs4916684 Benign
54668 Q8WXG9 (ADGRV1) N D 1985 rs41303352 Benign
54669 Q8WXG9 (ADGRV1) P L 1987 rs4916685 Benign
54670 Q8WXG9 (ADGRV1) L F 2004 rs16868972 Benign
54671 Q8WXG9 (ADGRV1) R C 2097 rs16868974 Benign
54672 Q8WXG9 (ADGRV1) Y C 2232 rs10037067 Benign
54673 Q8WXG9 (ADGRV1) N S 2345 rs2366926 Benign
54674 Q8WXG9 (ADGRV1) G A 2379 - Benign
54675 Q8WXG9 (ADGRV1) N S 2584 rs1878878 Benign
54676 Q8WXG9 (ADGRV1) S L 2764 rs16869016 Benign
54677 Q8WXG9 (ADGRV1) A T 2803 rs111033530 Benign
54678 Q8WXG9 (ADGRV1) V I 3094 rs13157270 Benign
54679 Q8WXG9 (ADGRV1) A V 3217 rs114137750 Benign
54680 Q8WXG9 (ADGRV1) G D 3248 rs16869032 Benign
54681 Q8WXG9 (ADGRV1) F L 3347 rs10067636 Benign
54682 Q8WXG9 (ADGRV1) E K 3471 rs2366928 Benign
54683 Q8WXG9 (ADGRV1) E A 3867 rs16869088 Benign
54684 Q8WXG9 (ADGRV1) E A 3868 rs16869088 Benign
54685 Q8WXG9 (ADGRV1) R W 4789 rs1131691924 Disease: Usher syndrome 2C (USH2C) [MIM:605472]
54686 Q8WXG9 (ADGRV1) E G 5344 rs2438374 Benign
54687 Q8WXG9 (ADGRV1) T A 5437 rs770471921 Benign
54688 Q8WXG9 (ADGRV1) H R 5978 rs756460900 Disease: Usher syndrome 2C (USH2C) [MIM:605472]
54689 Q8WXH0 (SYNE2) P S 8 rs2275017 Benign
54690 Q8WXH0 (SYNE2) S R 432 rs35554503 Benign
54691 Q8WXH0 (SYNE2) I T 574 rs9944035 Benign
54692 Q8WXH0 (SYNE2) R W 1393 rs17751301 Benign
54693 Q8WXH0 (SYNE2) M T 1969 rs4902264 Benign
54694 Q8WXH0 (SYNE2) A V 2284 rs4027402 Benign
54695 Q8WXH0 (SYNE2) A E 2347 rs34625768 Benign
54696 Q8WXH0 (SYNE2) N S 2358 rs4027404 Benign
54697 Q8WXH0 (SYNE2) S G 2359 rs7157465 Benign
54698 Q8WXH0 (SYNE2) S N 2359 rs4027404 Benign
54699 Q8WXH0 (SYNE2) A T 2394 rs4027405 Benign
54700 Q8WXH0 (SYNE2) A T 2395 rs4027405 Benign
54701 Q8WXH0 (SYNE2) V G 2490 rs34393543 Benign
54702 Q8WXH0 (SYNE2) I V 2564 rs11628107 Benign
54703 Q8WXH0 (SYNE2) G S 2801 rs1890908 Benign
54704 Q8WXH0 (SYNE2) S G 2802 rs1890908 Benign
54705 Q8WXH0 (SYNE2) I V 2942 rs3829767 Benign
54706 Q8WXH0 (SYNE2) E D 3026 rs34843668 Benign
54707 Q8WXH0 (SYNE2) N S 3130 rs11847087 Benign
54708 Q8WXH0 (SYNE2) D H 3253 rs8010911 Benign
54709 Q8WXH0 (SYNE2) H R 3309 rs8010699 Benign
54710 Q8WXH0 (SYNE2) K Q 3523 rs35203186 Benign
54711 Q8WXH0 (SYNE2) N H 3982 rs10137972 Benign
54712 Q8WXH0 (SYNE2) R H 4041 rs17101661 Benign
54713 Q8WXH0 (SYNE2) P A 4912 rs17766354 Benign
54714 Q8WXH0 (SYNE2) E K 4913 rs12881815 Benign
54715 Q8WXH0 (SYNE2) H Y 5086 rs2039475 Benign
54716 Q8WXH0 (SYNE2) L M 5186 rs10151658 Benign
54717 Q8WXH0 (SYNE2) D N 5547 rs17179194 Benign
54718 Q8WXH0 (SYNE2) A V 6155 rs2275014 Benign
54719 Q8WXH0 (SYNE2) T M 6211 rs36215895 Disease: Emery- Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5) [MIM:612999]
54720 Q8WXH0 (SYNE2) K E 6681 rs35315070 Benign
54721 Q8WXH0 (SYNE2) R W 6697 rs35700578 Benign
54722 Q8WXH2 (JPH3) I T 376 rs17857118 Benign
54723 Q8WXH2 (JPH3) P T 472 rs17853660 Benign
54724 Q8WXH2 (JPH3) P L 645 rs17853661 Benign
54725 Q8WXH4 (ASB11) S L 165 rs144572145 Benign
54726 Q8WXH4 (ASB11) D N 249 rs34025595 Benign
54727 Q8WXH4 (ASB11) S G 263 rs35859007 Benign
54728 Q8WXH6 (RAB40A) H L 45 rs1180895 Benign
54729 Q8WXI3 (ASB10) D V 88 rs151344617 Benign
54730 Q8WXI3 (ASB10) D Y 91 rs104886490 Benign
54731 Q8WXI3 (ASB10) A V 172 rs151344604 Benign
54732 Q8WXI3 (ASB10) R W 189 rs104886473 Benign
54733 Q8WXI3 (ASB10) R G 237 rs61735708 Benign
54734 Q8WXI3 (ASB10) R C 304 rs61735130 Benign
54735 Q8WXI3 (ASB10) T M 329 rs104886481 Benign
54736 Q8WXI3 (ASB10) R C 372 rs62489646 Benign
54737 Q8WXI3 (ASB10) P T 402 rs919533 Benign
54738 Q8WXI3 (ASB10) R C 453 rs3800791 Benign
54739 Q8WXI4 (ACOT11) R W 11 rs34630746 Benign
54740 Q8WXI4 (ACOT11) P L 165 rs2304306 Benign
54741 Q8WXI4 (ACOT11) G D 202 rs1702003 Benign
54742 Q8WXI4 (ACOT11) M I 212 rs2304305 Benign
54743 Q8WXI4 (ACOT11) R H 536 rs12403630 Benign
54744 Q8WXI7 (MUC16) T A 545 rs17000957 Benign
54745 Q8WXI7 (MUC16) R G 1015 rs17000950 Benign
54746 Q8WXI7 (MUC16) S T 1032 rs10411228 Benign
54747 Q8WXI7 (MUC16) P S 1041 rs10406202 Benign
54748 Q8WXI7 (MUC16) T I 1162 rs17000947 Benign
54749 Q8WXI7 (MUC16) K N 1266 rs1596797 Benign
54750 Q8WXI7 (MUC16) H Y 1353 rs12611293 Benign
54751 Q8WXI7 (MUC16) K N 1400 rs1596798 Benign
54752 Q8WXI7 (MUC16) L F 1833 rs4520945 Benign
54753 Q8WXI7 (MUC16) S P 1953 rs1108380 Benign
54754 Q8WXI7 (MUC16) S P 2058 rs1574479 Benign
54755 Q8WXI7 (MUC16) I V 2150 rs10407633 Benign
54756 Q8WXI7 (MUC16) T A 2271 rs11085805 Benign
54757 Q8WXI7 (MUC16) V L 2288 rs10410933 Benign
54758 Q8WXI7 (MUC16) D E 2356 rs10416013 Benign
54759 Q8WXI7 (MUC16) A T 2747 rs10402538 Benign
54760 Q8WXI7 (MUC16) M I 2786 rs17000886 Benign
54761 Q8WXI7 (MUC16) T M 2834 rs10407623 Benign
54762 Q8WXI7 (MUC16) R H 3573 rs2591594 Benign
54763 Q8WXI7 (MUC16) H D 5741 rs1559172 Benign
54764 Q8WXI7 (MUC16) A T 5754 rs1559171 Benign
54765 Q8WXI7 (MUC16) F V 5852 rs1862460 Benign
54766 Q8WXI7 (MUC16) T A 7063 rs17000770 Benign
54767 Q8WXI7 (MUC16) I V 7272 rs1867691 Benign
54768 Q8WXI7 (MUC16) T N 10507 rs11670461 Benign
54769 Q8WXI8 (CLEC4D) S G 32 rs4304840 Benign
54770 Q8WXI9 (GATAD2B) I V 316 - Benign
54771 Q8WXI9 (GATAD2B) S L 586 - Benign
54772 Q8WXJ9 (ASB17) S N 2 rs3795251 Benign
54773 Q8WXJ9 (ASB17) V A 101 rs1796814 Benign
54774 Q8WXK1 (ASB15) P L 57 rs6962756 Benign
54775 Q8WXK1 (ASB15) G A 357 rs4731112 Benign
54776 Q8WXQ8 (CPA5) P S 79 rs17388190 Benign
54777 Q8WXQ8 (CPA5) L S 336 rs11761888 Benign
54778 Q8WXQ8 (CPA5) E D 338 rs17854248 Benign
54779 Q8WXQ8 (CPA5) S G 378 rs11765961 Benign
54780 Q8WXR4 (MYO3B) P S 21 rs35391761 Benign
54781 Q8WXR4 (MYO3B) R H 185 rs55911154 Benign
54782 Q8WXR4 (MYO3B) N S 267 rs34509373 Benign
54783 Q8WXR4 (MYO3B) I V 275 rs10209102 Benign
54784 Q8WXR4 (MYO3B) K E 309 rs4668246 Benign
54785 Q8WXR4 (MYO3B) H L 316 rs55633190 Benign
54786 Q8WXR4 (MYO3B) E Q 352 rs56179904 Benign
54787 Q8WXR4 (MYO3B) N S 388 rs34273653 Benign
54788 Q8WXR4 (MYO3B) A T 406 rs10168181 Benign
54789 Q8WXR4 (MYO3B) Q P 638 rs55911627 Benign
54790 Q8WXR4 (MYO3B) V I 770 rs6736609 Benign
54791 Q8WXR4 (MYO3B) E G 773 rs33962844 Benign
54792 Q8WXR4 (MYO3B) E K 798 rs11892763 Benign
54793 Q8WXR4 (MYO3B) R Q 918 rs55769829 Benign
54794 Q8WXR4 (MYO3B) S C 969 rs35857918 Benign
54795 Q8WXR4 (MYO3B) R C 990 rs34236931 Benign
54796 Q8WXR4 (MYO3B) R K 1082 rs10185178 Benign
54797 Q8WXR4 (MYO3B) I V 1092 rs34219776 Benign
54798 Q8WXR4 (MYO3B) V I 1137 rs34546065 Benign
54799 Q8WXR4 (MYO3B) R C 1165 rs56052422 Benign
54800 Q8WXS3 (BAALC) S T 164 rs34542607 Benign
54801 Q8WXS8 (ADAMTS14) R C 179 rs34022601 Benign
54802 Q8WXS8 (ADAMTS14) L P 590 rs10823607 Benign
54803 Q8WXS8 (ADAMTS14) L M 937 rs12774070 Benign
54804 Q8WXS8 (ADAMTS14) S N 1017 rs10999516 Benign
54805 Q8WXS8 (ADAMTS14) E G 1049 rs4747096 Benign
54806 Q8WXU2 (DNAAF4) P S 2 rs143493699 Benign
54807 Q8WXU2 (DNAAF4) N K 38 rs16976354 Benign
54808 Q8WXU2 (DNAAF4) V I 91 rs17819126 Benign
54809 Q8WXU2 (DNAAF4) E G 191 rs600753 Benign
54810 Q8WXU2 (DNAAF4) A V 332 rs17855756 Benign
54811 Q8WXU2 (DNAAF4) S C 420 rs77641439 Benign
54812 Q8WXW3 (PIBF1) E Q 89 rs865883692 Disease: -
54813 Q8WXW3 (PIBF1) I V 167 rs1372000 Benign
54814 Q8WXW3 (PIBF1) R Q 405 rs17089782 Disease: Joubert syndrome 33 (JBTS33) [MIM:617767]
54815 Q8WXW3 (PIBF1) I V 630 rs11544631 Benign
54816 Q8WXW3 (PIBF1) D A 637 rs987735817 Disease: Joubert syndrome 33 (JBTS33) [MIM:617767]
54817 Q8WXX0 (DNAH7) H P 169 rs1072599 Benign
54818 Q8WXX0 (DNAH7) A T 280 rs2375643 Benign
54819 Q8WXX0 (DNAH7) I V 315 rs17838596 Benign
54820 Q8WXX0 (DNAH7) S N 438 rs16843720 Benign
54821 Q8WXX0 (DNAH7) R C 545 rs10931715 Benign
54822 Q8WXX0 (DNAH7) D H 565 rs2635718 Benign
54823 Q8WXX0 (DNAH7) K E 675 rs10198893 Benign
54824 Q8WXX0 (DNAH7) K E 825 rs6719500 Benign
54825 Q8WXX0 (DNAH7) P T 1422 rs168192 Benign
54826 Q8WXX0 (DNAH7) E K 1525 rs13415574 Benign
54827 Q8WXX0 (DNAH7) R Q 1886 rs13034775 Benign
54828 Q8WXX0 (DNAH7) P L 1940 rs2375544 Benign
54829 Q8WXX0 (DNAH7) P L 1971 rs2889109 Benign
54830 Q8WXX0 (DNAH7) M T 2020 rs10184131 Benign
54831 Q8WXX0 (DNAH7) N K 2459 rs16841199 Benign
54832 Q8WXX0 (DNAH7) T I 2569 rs2293066 Benign
54833 Q8WXX0 (DNAH7) I V 2809 rs16841018 Benign
54834 Q8WXX0 (DNAH7) L P 3319 rs13411834 Benign
54835 Q8WXX0 (DNAH7) R H 3386 rs6708527 Benign
54836 Q8WXX7 (AUTS2) A S 303 rs2293507 Benign
54837 Q8WY07 (SLC7A3) L V 508 rs6525447 Benign
54838 Q8WY36 (BBX) P S 576 rs59781647 Benign
54839 Q8WY41 (NANOS1) P T 34 rs191267549 Benign
54840 Q8WY64 (MYLIP) N S 342 rs9370867 Benign
54841 Q8WY91 (THAP4) S G 121 rs7424328 Benign
54842 Q8WYA0 (IFT81) L F 29 rs751222088 Disease: Short-rib thoracic dysplasia 19 with or without polydactyly (SRTD19) [MIM:617895]
54843 Q8WYA1 (ARNTL2) N S 340 rs1037921 Benign
54844 Q8WYA1 (ARNTL2) A V 574 rs11049005 Benign
54845 Q8WYA6 (CTNNBL1) N D 507 rs4811236 Benign
54846 Q8WYB5 (KAT6B) E K 360 - Benign
54847 Q8WYB5 (KAT6B) A S 1217 rs57372986 Benign
54848 Q8WYB5 (KAT6B) V I 1499 rs3740321 Benign
54849 Q8WYJ6 (SEPTIN1) G V 80 rs34518080 Benign
54850 Q8WYK0 (ACOT12) V I 230 rs34607174 Benign
54851 Q8WYK0 (ACOT12) A T 403 rs10371 Benign
54852 Q8WYK1 (CNTNAP5) S L 452 rs17727261 Benign
54853 Q8WYK1 (CNTNAP5) T M 1195 rs34165507 Benign
54854 Q8WYK2 (JDP2) T A 13 rs3625 Benign
54855 Q8WYP3 (RIN2) S T 197 rs3803981 Benign
54856 Q8WYP3 (RIN2) A T 643 rs199603 Benign
54857 Q8WYP5 (AHCTF1) N S 874 rs2642990 Benign
54858 Q8WYP5 (AHCTF1) L V 2185 rs12410563 Benign
54859 Q8WYQ3 (CHCHD10) P S 34 rs551521196 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) [MIM:615911]
54860 Q8WYQ3 (CHCHD10) G R 58 rs730880033 Disease: Myopathy, isolated mitochondria l, autosomal dominant (IMMD) [MIM:616209]
54861 Q8WYQ3 (CHCHD10) S L 59 rs587777574 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) [MIM:615911]
54862 Q8WYQ3 (CHCHD10) G V 66 rs730880031 Disease: Spinal muscular atrophy, Jokela type (SMAJ) [MIM:615048]
54863 Q8WYQ5 (DGCR8) I V 174 rs35987994 Benign
54864 Q8WYQ5 (DGCR8) N D 725 rs11546015 Benign
54865 Q8WYQ9 (ZCCHC14) I V 54 rs11648852 Benign
54866 Q8WYQ9 (ZCCHC14) G A 244 rs13338940 Benign
54867 Q8WYQ9 (ZCCHC14) V M 693 rs3748400 Benign
54868 Q8WYR1 (PIK3R5) P S 629 rs61761068 Disease: Ataxia- oculomotor apraxia 3 (AOA3) [MIM:615217]
54869 Q8WYR4 (RSPH1) G D 103 rs587777060 Disease: Ciliary dyskinesia, primary, 24 (CILD24) [MIM:615481]
54870 Q8WZ04 (LRTOMT) R Q 81 rs137853185 Disease: Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
54871 Q8WZ04 (LRTOMT) W R 105 rs137853186 Disease: Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
54872 Q8WZ04 (LRTOMT) E K 110 rs137853187 Disease: Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
54873 Q8WZ04 (LRTOMT) R Q 208 rs61741195 Benign
54874 Q8WZ42 (TTN) V M 54 rs139517732 Disease: Cardiomyopat hy, dilated 1G (CMD1G) [MIM:604145]
54875 Q8WZ42 (TTN) D Y 60 rs35683768 Benign
54876 Q8WZ42 (TTN) R W 279 rs138060032 Disease: Myopathy, myofibrillar , 9, with early respiratory failure (MFM9) [MIM:603689]
54877 Q8WZ42 (TTN) R C 328 rs16866538 Benign
54878 Q8WZ42 (TTN) R T 360 rs56128843 Benign
54879 Q8WZ42 (TTN) V I 498 rs72647851 Benign
54880 Q8WZ42 (TTN) R L 740 rs28933405 Disease: Cardiomyopat hy, familial hypertrophic 9 (CMH9) [MIM:613765]
54881 Q8WZ42 (TTN) A V 743 rs267607157 Disease: Cardiomyopat hy, dilated 1G (CMD1G) [MIM:604145]
54882 Q8WZ42 (TTN) T I 811 rs35813871 Benign
54883 Q8WZ42 (TTN) R H 922 rs56046320 Benign
54884 Q8WZ42 (TTN) W R 976 rs267607155 Disease: Cardiomyopat hy, dilated 1G (CMD1G) [MIM:604145]
54885 Q8WZ42 (TTN) A T 1081 rs55914517 Benign
54886 Q8WZ42 (TTN) G R 1137 rs72647870 Benign
54887 Q8WZ42 (TTN) K E 1201 rs10497520 Benign
54888 Q8WZ42 (TTN) V A 1202 rs150667217 Benign
54889 Q8WZ42 (TTN) S L 1249 rs1552280 Benign
54890 Q8WZ42 (TTN) S L 1295 rs1552280 Benign
54891 Q8WZ42 (TTN) G D 1345 rs36021856 Benign
54892 Q8WZ42 (TTN) V L 1353 rs36062108 Benign
54893 Q8WZ42 (TTN) I V 1393 rs16866531 Benign
54894 Q8WZ42 (TTN) R C 1416 rs72647875 Benign
54895 Q8WZ42 (TTN) R P 1441 rs72647876 Benign
54896 Q8WZ42 (TTN) I V 1544 rs72647877 Benign
54897 Q8WZ42 (TTN) R Q 1572 rs12476289 Benign
54898 Q8WZ42 (TTN) R G 1658 rs56270960 Benign
54899 Q8WZ42 (TTN) P L 1744 rs75686037 Benign
54900 Q8WZ42 (TTN) S G 1772 rs150725992 Benign
54901 Q8WZ42 (TTN) R H 1998 rs144135510 Benign
54902 Q8WZ42 (TTN) I T 2118 rs56404770 Benign
54903 Q8WZ42 (TTN) A T 2164 rs56285559 Benign
54904 Q8WZ42 (TTN) D Y 2240 - Benign
54905 Q8WZ42 (TTN) G S 2392 rs4894048 Benign
54906 Q8WZ42 (TTN) M I 2610 rs56142888 Benign
54907 Q8WZ42 (TTN) V F 2823 rs33917087 Benign
54908 Q8WZ42 (TTN) S N 2831 rs2306636 Benign
54909 Q8WZ42 (TTN) V I 2930 rs56373393 Benign
54910 Q8WZ42 (TTN) T P 2963 rs200875815 Benign
54911 Q8WZ42 (TTN) N I 3026 rs11900987 Benign
54912 Q8WZ42 (TTN) K R 3154 rs4893853 Benign
54913 Q8WZ42 (TTN) Q E 3191 rs33997263 Benign
54914 Q8WZ42 (TTN) V G 3250 rs55634230 Benign
54915 Q8WZ42 (TTN) V M 3261 rs2291311 Benign
54916 Q8WZ42 (TTN) R Q 3367 rs34819099 Benign
54917 Q8WZ42 (TTN) S N 3419 rs2291310 Benign
54918 Q8WZ42 (TTN) P S 3491 rs2627037 Benign
54919 Q8WZ42 (TTN) L V 3590 rs55853696 Benign
54920 Q8WZ42 (TTN) P S 3637 rs2627037 Benign
54921 Q8WZ42 (TTN) I V 3762 rs34070843 Benign
54922 Q8WZ42 (TTN) S Y 3799 - Disease: Cardiomyopat hy, dilated 1G (CMD1G) [MIM:604145]
54923 Q8WZ42 (TTN) I F 3877 rs34618570 Benign
54924 Q8WZ42 (TTN) I L 3965 rs56244420 Benign
54925 Q8WZ42 (TTN) R Q 4084 rs200431386 Benign
54926 Q8WZ42 (TTN) T P 4215 rs2562829 Benign
54927 Q8WZ42 (TTN) G W 4238 rs56030296 Benign
54928 Q8WZ42 (TTN) L F 4283 rs1883085 Benign
54929 Q8WZ42 (TTN) G D 4303 rs55857742 Benign
54930 Q8WZ42 (TTN) D E 4427 rs55906845 Benign
54931 Q8WZ42 (TTN) S N 4465 rs281864908 Disease: Cardiomyopat hy, dilated 1G (CMD1G) [MIM:604145]
54932 Q8WZ42 (TTN) A V 8288 rs16866412 Benign
54933 Q8WZ42 (TTN) I T 8474 rs4893852 Benign
54934 Q8WZ42 (TTN) G E 12310 rs55723264 Benign
54935 Q8WZ42 (TTN) H R 12383 rs2288563 Benign
54936 Q8WZ42 (TTN) V A 12469 rs34706299 Benign
54937 Q8WZ42 (TTN) K E 12679 rs6723526 Benign
54938 Q8WZ42 (TTN) R C 12798 rs200914097 Benign
54939 Q8WZ42 (TTN) E G 13049 - Benign
54940 Q8WZ42 (TTN) R L 13096 rs373298007 Benign
54941 Q8WZ42 (TTN) V A 13297 rs571522834 Benign
54942 Q8WZ42 (TTN) I M 13399 rs74580375 Benign
54943 Q8WZ42 (TTN) A T 13418 rs144668626 Benign
54944 Q8WZ42 (TTN) E V 13428 rs114331773 Benign
54945 Q8WZ42 (TTN) I T 13430 rs184078045 Benign
54946 Q8WZ42 (TTN) D N 13469 rs17354992 Benign
54947 Q8WZ42 (TTN) K N 13495 rs72677225 Benign
54948 Q8WZ42 (TTN) V I 14109 rs72677232 Benign
54949 Q8WZ42 (TTN) R Q 14131 rs72677233 Benign
54950 Q8WZ42 (TTN) P T 14208 rs146181477 Benign
54951 Q8WZ42 (TTN) R Q 14750 rs200944827 Benign
54952 Q8WZ42 (TTN) S T 14999 rs55663050 Benign
54953 Q8WZ42 (TTN) N T 15021 rs36043230 Benign
54954 Q8WZ42 (TTN) A V 15520 rs16866412 Benign
54955 Q8WZ42 (TTN) R Q 15620 rs201825412 Benign
54956 Q8WZ42 (TTN) S I 15629 rs200650668 Benign
54957 Q8WZ42 (TTN) R Q 15700 rs370390570 Benign
54958 Q8WZ42 (TTN) L P 15705 rs755155531 Benign
54959 Q8WZ42 (TTN) I M 15837 rs554368924 Benign
54960 Q8WZ42 (TTN) G V 16046 rs780672348 Benign
54961 Q8WZ42 (TTN) R H 16058 rs72646808 Benign
54962 Q8WZ42 (TTN) K I 16067 rs2303832 Benign
54963 Q8WZ42 (TTN) I T 16090 rs72646809 Benign
54964 Q8WZ42 (TTN) R C 16409 rs55734111 Benign
54965 Q8WZ42 (TTN) R P 16424 - Benign
54966 Q8WZ42 (TTN) V M 16575 rs3813243 Benign
54967 Q8WZ42 (TTN) I M 16629 rs55809450 Benign
54968 Q8WZ42 (TTN) K R 16877 rs72646823 Benign
54969 Q8WZ42 (TTN) N D 17060 rs1001238 Benign
54970 Q8WZ42 (TTN) I V 17637 rs56025724 Benign
54971 Q8WZ42 (TTN) R H 17838 rs2288569 Benign
54972 Q8WZ42 (TTN) D N 17866 - Benign
54973 Q8WZ42 (TTN) E A 18094 rs769852851 Benign
54974 Q8WZ42 (TTN) G S 18109 rs200732032 Benign
54975 Q8WZ42 (TTN) P L 18221 rs16866406 Benign
54976 Q8WZ42 (TTN) A T 18222 - Benign
54977 Q8WZ42 (TTN) R Q 18726 rs141973925 Benign
54978 Q8WZ42 (TTN) N S 18939 rs1470758075 Benign
54979 Q8WZ42 (TTN) R Q 19000 rs199895260 Benign
54980 Q8WZ42 (TTN) T I 19367 rs72646850 Benign
54981 Q8WZ42 (TTN) D G 19495 rs773075736 Benign
54982 Q8WZ42 (TTN) R H 19665 rs202240487 Benign
54983 Q8WZ42 (TTN) T I 19762 rs2042996 Benign
54984 Q8WZ42 (TTN) G R 19947 rs181717727 Benign
54985 Q8WZ42 (TTN) V M 19956 rs150661999 Benign
54986 Q8WZ42 (TTN) R Q 19992 rs141965360 Benign
54987 Q8WZ42 (TTN) R C 20057 rs72646861 Benign
54988 Q8WZ42 (TTN) S L 20075 rs13021201 Benign
54989 Q8WZ42 (TTN) T K 20179 - Benign
54990 Q8WZ42 (TTN) A T 20198 rs56378177 Benign
54991 Q8WZ42 (TTN) A V 20198 rs55948748 Benign
54992 Q8WZ42 (TTN) R H 20331 rs200217934 Benign
54993 Q8WZ42 (TTN) R K 20359 rs9808036 Benign
54994 Q8WZ42 (TTN) R K 20564 rs72646869 Benign
54995 Q8WZ42 (TTN) V I 20718 rs2303838 Benign
54996 Q8WZ42 (TTN) S P 20726 rs72646873 Benign
54997 Q8WZ42 (TTN) T N 20892 - Benign
54998 Q8WZ42 (TTN) S R 20894 rs750847940 Benign
54999 Q8WZ42 (TTN) D E 21125 rs534340303 Benign
55000 Q8WZ42 (TTN) P S 21403 rs55980498 Benign

Reference

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

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