Home Research COVID-19 Services Publications People Teaching Job Opening News Forum Lab Only
Online Services

●I-TASSER ●D-I-TASSER ●I-TASSER-MTD ●C-I-TASSER ●CR-I-TASSER ●QUARK ●C-QUARK ●D-QUARK ●DRfold ●DRfold2 ●LOMETS ●MUSTER ●CEthreader ●SEGMER ●DeepFold ●DeepFoldRNA ●FoldDesign ●COFACTOR ●COACH ●MetaGO ●TripletGO ●IonCom ●FG-MD ●ModRefiner ●REMO ●DEMO ●DEMO-EM ●DMFold ●SPRING ●COTH ●Threpp ●PEPPI ●BSpred ●ANGLOR ●EDock ●BSP-SLIM ●SAXSTER ●FUpred ●ThreaDom ●ThreaDomEx ●EvoDesign ●BindProf ●BindProfX ●SSIPe ●GPCR-I-TASSER ●MAGELLAN ●ResQ ●STRUM ●DAMpred ●TCRfinder

●TM-score ●TM-align ●US-align ●MM-align ●RNA-align ●NW-align ●LS-align ●EDTSurf ●MVP ●MVP-Fit ●SPICKER ●HAAD ●PSSpred ●3DRobot ●MR-REX ●I-TASSER-MR ●SVMSEQ ●NeBcon ●ResPRE ●TripletRes ●DeepPotential ●WDL-RF ●ATPbind ●DockRMSD ●DeepMSA ●DeepMSA2 ●FASPR ●EM-Refiner ●GPU-I-TASSER

●BioLiP ●HPmod ●E. coli ●GLASS ●GPCR-HGmod ●GPCR-RD ●GPCR-EXP ●Tara-3D ●TM-fold ●DECOYS ●POTENTIAL ●RW/RWplus ●EvoEF ●HPSF ●THE-DB ●ADDRESS ●Alpaca-Antibody ●CASP7 ●CASP8 ●CASP9 ●CASP10 ●CASP11 ●CASP12 ●CASP13 ●CASP14

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.

[Browse by structures] [Browse by mutations on structures] [Browse by all mutations] [Statistics and download] [Search]
Go to page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 (total pages: 14; current page: 14)

# UniProt accession
(Gene in neXtProt)		 Wild type amino acid Mutant amino acid Residue index in UniProt dbSNP Disease association [OMIM ID]
65001 Q9NZ08 (ERAP1) E K 56 rs3734016 Benign
65002 Q9NZ08 (ERAP1) R P 127 rs26653 Benign
65003 Q9NZ08 (ERAP1) I M 276 rs26618 Benign
65004 Q9NZ08 (ERAP1) G D 346 rs27895 Benign
65005 Q9NZ08 (ERAP1) M V 349 rs2287987 Benign
65006 Q9NZ08 (ERAP1) K R 528 rs30187 Benign
65007 Q9NZ08 (ERAP1) D G 575 rs6863093 Benign
65008 Q9NZ08 (ERAP1) D N 575 rs10050860 Benign
65009 Q9NZ08 (ERAP1) R Q 725 rs17482078 Benign
65010 Q9NZ08 (ERAP1) Q E 730 rs27044 Benign
65011 Q9NZ09 (UBAP1) N K 357 rs16935457 Benign
65012 Q9NZ20 (PLA2G3) S A 70 rs2232176 Benign
65013 Q9NZ20 (PLA2G3) E Q 116 rs2074734 Benign
65014 Q9NZ20 (PLA2G3) L V 157 rs2074735 Benign
65015 Q9NZ20 (PLA2G3) H Y 307 rs2232180 Benign
65016 Q9NZ20 (PLA2G3) S R 322 rs2072193 Benign
65017 Q9NZ20 (PLA2G3) R Q 378 rs2232183 Benign
65018 Q9NZ43 (USE1) L S 154 rs414528 Benign
65019 Q9NZ52 (GGA3) K R 132 rs117805695 Benign
65020 Q9NZ52 (GGA3) S G 321 rs146877619 Benign
65021 Q9NZ53 (PODXL2) V A 456 rs34117815 Benign
65022 Q9NZ56 (FMN2) R G 1148 rs12732924 Benign
65023 Q9NZ56 (FMN2) R G 1291 rs12732924 Benign
65024 Q9NZ56 (FMN2) R H 1468 rs3795677 Benign
65025 Q9NZ63 (C9orf78) Q H 70 rs1237745 Benign
65026 Q9NZ71 (RTEL1) N S 124 rs3848668 Benign
65027 Q9NZ71 (RTEL1) E K 251 rs398123019 Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65028 Q9NZ71 (RTEL1) P L 484 rs786205700 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 3 (PFBMFT3) [MIM:616373]
65029 Q9NZ71 (RTEL1) M I 492 rs370343781 Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65030 Q9NZ71 (RTEL1) E D 591 rs398123051 Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65031 Q9NZ71 (RTEL1) A T 621 rs398123052 Disease: Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190]
65032 Q9NZ71 (RTEL1) P L 647 rs1177091623 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 3 (PFBMFT3) [MIM:616373]
65033 Q9NZ71 (RTEL1) R Q 684 rs35640778 Benign
65034 Q9NZ71 (RTEL1) I M 699 rs398123048 Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65035 Q9NZ71 (RTEL1) L R 710 - Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65036 Q9NZ71 (RTEL1) G V 739 rs398123016 Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65037 Q9NZ71 (RTEL1) V M 745 rs398123049 Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65038 Q9NZ71 (RTEL1) Q P 829 - Benign
65039 Q9NZ71 (RTEL1) G D 849 rs190887884 Benign
65040 Q9NZ71 (RTEL1) K E 897 - Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65041 Q9NZ71 (RTEL1) A T 929 rs61736615 Benign
65042 Q9NZ71 (RTEL1) R W 957 rs398123018 Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65043 Q9NZ71 (RTEL1) F L 964 rs1470145133 Disease: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
65044 Q9NZ71 (RTEL1) P H 1034 rs115610405 Benign
65045 Q9NZ71 (RTEL1) Q H 1042 rs3208008 Benign
65046 Q9NZ71 (RTEL1) A T 1059 rs115303435 Benign
65047 Q9NZ71 (RTEL1) H P 1124 rs786205702 Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 3 (PFBMFT3) [MIM:616373]
65048 Q9NZ94 (NLGN3) S Y 92 rs17854698 Benign
65049 Q9NZ94 (NLGN3) R C 451 - Disease: Autism, X-linked 1 (AUTSX1) [MIM:300425]
65050 Q9NZ94 (NLGN3) L I 718 rs17854697 Benign
65051 Q9NZ94 (NLGN3) G W 751 rs17857400 Benign
65052 Q9NZ94 (NLGN3) G S 778 rs17857401 Benign
65053 Q9NZA1 (CLIC5) T A 114 rs723580 Benign
65054 Q9NZA1 (CLIC5) P H 257 rs35822882 Benign
65055 Q9NZB2 (FAM120A) Y H 327 rs11541747 Benign
65056 Q9NZB8 (MOCS1) R W 67 rs754441164 Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65057 Q9NZB8 (MOCS1) R W 73 rs104893970 Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65058 Q9NZB8 (MOCS1) C G 80 rs151141411 Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65059 Q9NZB8 (MOCS1) C F 84 - Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65060 Q9NZB8 (MOCS1) R W 123 rs779592342 Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65061 Q9NZB8 (MOCS1) G D 126 rs372246702 Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65062 Q9NZB8 (MOCS1) G D 127 - Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65063 Q9NZB8 (MOCS1) R Q 319 rs104893969 Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65064 Q9NZB8 (MOCS1) G E 324 rs1187685038 Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65065 Q9NZB8 (MOCS1) G R 324 rs762253951 Disease: Molybdenum cofactor deficiency, complementat ion group A (MOCODA) [MIM:252150]
65066 Q9NZB8 (MOCS1) P H 390 rs11969769 Benign
65067 Q9NZB8 (MOCS1) R L 452 rs11969206 Benign
65068 Q9NZC2 (TREM2) Y C 38 rs797044603 Benign
65069 Q9NZC2 (TREM2) R H 62 rs143332484 Benign
65070 Q9NZC2 (TREM2) T M 66 rs201258663 Benign
65071 Q9NZC2 (TREM2) D N 87 rs142232675 Benign
65072 Q9NZC2 (TREM2) T K 96 rs2234253 Benign
65073 Q9NZC2 (TREM2) T R 96 rs2234253 Benign
65074 Q9NZC2 (TREM2) V G 126 rs121908402 Disease: Polycystic lipomembrano us osteodysplas ia with sclerosing leukoencepha lopathy 2 (PLOSL2) [MIM:618193]
65075 Q9NZC2 (TREM2) A S 130 - Benign
65076 Q9NZC2 (TREM2) H Y 157 rs2234255 Benign
65077 Q9NZC2 (TREM2) S R 162 rs371702633 Benign
65078 Q9NZC2 (TREM2) A T 192 rs150277350 Benign
65079 Q9NZC2 (TREM2) L P 211 rs2234256 Benign
65080 Q9NZC2 (TREM2) T I 223 rs138355759 Benign
65081 Q9NZC3 (GDE1) R Q 218 rs2072086 Benign
65082 Q9NZC3 (GDE1) E K 328 rs34137361 Benign
65083 Q9NZC4 (EHF) A V 96 rs9804460 Benign
65084 Q9NZC7 (WWOX) P R 47 rs730880292 Disease: Epileptic encephalopat hy, early infantile, 28 (EIEE28) [MIM:616211]
65085 Q9NZC7 (WWOX) P T 47 rs587777128 Disease: Spinocerebel lar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322]
65086 Q9NZC7 (WWOX) P L 98 rs144601717 Benign
65087 Q9NZC7 (WWOX) A T 179 rs11545029 Benign
65088 Q9NZC7 (WWOX) L V 216 rs7201683 Benign
65089 Q9NZC7 (WWOX) L F 272 rs186745328 Benign
65090 Q9NZC7 (WWOX) P A 282 rs3764340 Benign
65091 Q9NZC7 (WWOX) L P 291 rs119487098 Benign
65092 Q9NZC7 (WWOX) G R 372 rs587777127 Disease: Spinocerebel lar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322]
65093 Q9NZC9 (SMARCAL1) A G 22 rs17851400 Benign
65094 Q9NZC9 (SMARCAL1) A T 43 rs2066524 Benign
65095 Q9NZC9 (SMARCAL1) R H 114 rs11555797 Benign
65096 Q9NZC9 (SMARCAL1) I F 207 rs6734114 Benign
65097 Q9NZC9 (SMARCAL1) S R 315 rs2066522 Benign
65098 Q9NZC9 (SMARCAL1) E Q 377 rs2066518 Benign
65099 Q9NZC9 (SMARCAL1) D V 424 rs2066520 Benign
65100 Q9NZC9 (SMARCAL1) A P 468 - Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65101 Q9NZC9 (SMARCAL1) I N 548 rs119473036 Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65102 Q9NZC9 (SMARCAL1) S L 579 - Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65103 Q9NZC9 (SMARCAL1) R W 586 rs119473038 Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65104 Q9NZC9 (SMARCAL1) R W 644 rs1313658611 Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65105 Q9NZC9 (SMARCAL1) R C 645 rs119473037 Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65106 Q9NZC9 (SMARCAL1) K Q 647 - Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65107 Q9NZC9 (SMARCAL1) K T 647 - Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65108 Q9NZC9 (SMARCAL1) D N 649 rs2066523 Benign
65109 Q9NZC9 (SMARCAL1) T I 705 rs200644381 Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65110 Q9NZC9 (SMARCAL1) T M 742 rs2271336 Benign
65111 Q9NZC9 (SMARCAL1) R Q 764 rs267607071 Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65112 Q9NZC9 (SMARCAL1) R H 820 rs200666300 Disease: Schimke immuno- osseous dysplasia (SIOD) [MIM:242900]
65113 Q9NZD1 (GPRC5D) A D 18 rs3741822 Benign
65114 Q9NZD4 (AHSP) P T 100 rs36018996 Benign
65115 Q9NZE8 (MRPL35) P S 19 rs10901 Benign
65116 Q9NZE8 (MRPL35) A T 24 rs17851803 Benign
65117 Q9NZE8 (MRPL35) R H 29 rs1051949 Benign
65118 Q9NZE8 (MRPL35) A P 80 rs34044771 Benign
65119 Q9NZE8 (MRPL35) P L 81 rs3192352 Benign
65120 Q9NZE8 (MRPL35) Y C 180 rs1052065 Benign
65121 Q9NZH5 (PTTG2) R P 44 rs6811863 Benign
65122 Q9NZH6 (IL37) G V 31 rs3811046 Benign
65123 Q9NZH6 (IL37) T A 42 rs3811047 Benign
65124 Q9NZH6 (IL37) P R 50 rs2708943 Benign
65125 Q9NZH6 (IL37) N S 54 rs2723183 Benign
65126 Q9NZH6 (IL37) P L 108 rs2723187 Benign
65127 Q9NZH6 (IL37) R W 152 rs28947200 Benign
65128 Q9NZH6 (IL37) W R 164 rs2708947 Benign
65129 Q9NZH6 (IL37) D N 218 rs2723192 Benign
65130 Q9NZH7 (IL36B) R C 36 rs34754959 Benign
65131 Q9NZH8 (IL36G) Q K 69 rs6707930 Benign
65132 Q9NZI5 (GRHL1) N S 191 rs16867256 Benign
65133 Q9NZI5 (GRHL1) V I 397 rs2303920 Benign
65134 Q9NZI7 (UBP1) N S 109 rs3736563 Benign
65135 Q9NZI7 (UBP1) T A 212 rs17854430 Benign
65136 Q9NZJ0 (DTL) S N 425 rs35137676 Benign
65137 Q9NZJ0 (DTL) A V 436 rs3135474 Benign
65138 Q9NZJ0 (DTL) K T 694 rs6540718 Benign
65139 Q9NZJ4 (SACS) D Y 168 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65140 Q9NZJ4 (SACS) T K 201 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65141 Q9NZJ4 (SACS) N K 232 rs2031640 Benign
65142 Q9NZJ4 (SACS) L F 308 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65143 Q9NZJ4 (SACS) L P 556 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65144 Q9NZJ4 (SACS) A T 694 rs17325713 Benign
65145 Q9NZJ4 (SACS) L P 802 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65146 Q9NZJ4 (SACS) C R 991 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65147 Q9NZJ4 (SACS) F S 1054 rs137853019 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65148 Q9NZJ4 (SACS) M K 1311 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65149 Q9NZJ4 (SACS) R P 1575 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65150 Q9NZJ4 (SACS) H R 1587 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65151 Q9NZJ4 (SACS) W R 1946 rs137853017 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65152 Q9NZJ4 (SACS) K N 2017 rs35865691 Benign
65153 Q9NZJ4 (SACS) R C 2703 rs780332615 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65154 Q9NZJ4 (SACS) P Q 2798 rs140551762 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65155 Q9NZJ4 (SACS) K R 2958 rs11839380 Benign
65156 Q9NZJ4 (SACS) W R 3248 rs137853018 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65157 Q9NZJ4 (SACS) V A 3369 rs17078605 Benign
65158 Q9NZJ4 (SACS) L P 3481 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65159 Q9NZJ4 (SACS) R Q 3636 rs281865119 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65160 Q9NZJ4 (SACS) L P 3645 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65161 Q9NZJ4 (SACS) P T 3652 rs201505036 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65162 Q9NZJ4 (SACS) F S 3653 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65163 Q9NZJ4 (SACS) P A 3678 rs17078601 Benign
65164 Q9NZJ4 (SACS) T A 3702 - Disease: -
65165 Q9NZJ4 (SACS) A P 4074 rs137853016 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65166 Q9NZJ4 (SACS) N D 4217 rs35799469 Benign
65167 Q9NZJ4 (SACS) R Q 4331 rs773009784 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65168 Q9NZJ4 (SACS) E K 4343 rs749383532 Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65169 Q9NZJ4 (SACS) K T 4508 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65170 Q9NZJ4 (SACS) N D 4549 - Disease: Spastic ataxia Charlevoix- Saguenay type (SACS) [MIM:270550]
65171 Q9NZJ5 (EIF2AK3) S C 136 rs867529 Benign
65172 Q9NZJ5 (EIF2AK3) Q R 166 rs13045 Benign
65173 Q9NZJ5 (EIF2AK3) D V 566 rs55791823 Benign
65174 Q9NZJ5 (EIF2AK3) R Q 588 rs121908569 Disease: Wolcott- Rallison syndrome (WRS) [MIM:226980]
65175 Q9NZJ5 (EIF2AK3) A S 704 rs1805165 Benign
65176 Q9NZJ5 (EIF2AK3) P L 716 rs55861585 Benign
65177 Q9NZJ6 (COQ3) K E 134 rs11548336 Benign
65178 Q9NZJ6 (COQ3) S G 272 rs6925344 Benign
65179 Q9NZJ6 (COQ3) Y H 329 rs4144164 Benign
65180 Q9NZK5 (ADA2) G R 47 rs202134424 Disease: Vasculitis, autoinflamma tion, immunodefici ency, and hematologic defects syndrome (VAIHS) [MIM:615688]
65181 Q9NZK5 (ADA2) G V 47 rs200930463 Disease: Vasculitis, autoinflamma tion, immunodefici ency, and hematologic defects syndrome (VAIHS) [MIM:615688]
65182 Q9NZK5 (ADA2) A D 109 rs587777240 Disease: Vasculitis, autoinflamma tion, immunodefici ency, and hematologic defects syndrome (VAIHS) [MIM:615688]
65183 Q9NZK5 (ADA2) H Q 112 rs587777241 Disease: Vasculitis, autoinflamma tion, immunodefici ency, and hematologic defects syndrome (VAIHS) [MIM:615688]
65184 Q9NZK5 (ADA2) V A 119 - Disease: Sneddon syndrome (SNDNS) [MIM:182410]
65185 Q9NZK5 (ADA2) G S 142 - Disease: Sneddon syndrome (SNDNS) [MIM:182410]
65186 Q9NZK5 (ADA2) R Q 169 rs77563738 Disease: Vasculitis, autoinflamma tion, immunodefici ency, and hematologic defects syndrome (VAIHS) [MIM:615688]
65187 Q9NZK5 (ADA2) P L 251 rs148936893 Disease: Vasculitis, autoinflamma tion, immunodefici ency, and hematologic defects syndrome (VAIHS) [MIM:615688]
65188 Q9NZK5 (ADA2) W S 264 rs587777242 Disease: Vasculitis, autoinflamma tion, immunodefici ency, and hematologic defects syndrome (VAIHS) [MIM:615688]
65189 Q9NZK5 (ADA2) H R 335 rs2231495 Benign
65190 Q9NZK5 (ADA2) Y C 453 rs376785840 Disease: Vasculitis, autoinflamma tion, immunodefici ency, and hematologic defects syndrome (VAIHS) [MIM:615688]
65191 Q9NZL3 (ZNF224) M V 118 rs2068061 Benign
65192 Q9NZL3 (ZNF224) H L 162 rs4239529 Benign
65193 Q9NZL3 (ZNF224) K N 438 rs3208201 Benign
65194 Q9NZL3 (ZNF224) Q H 447 rs58935748 Benign
65195 Q9NZL3 (ZNF224) H D 506 rs3746323 Benign
65196 Q9NZL3 (ZNF224) K E 640 rs3746319 Benign
65197 Q9NZL4 (HSPBP1) G V 25 rs140649061 Benign
65198 Q9NZL9 (MAT2B) A T 293 rs17849948 Benign
65199 Q9NZM1 (MYOF) V I 1136 rs36032890 Benign
65200 Q9NZM1 (MYOF) Y F 1198 rs12256834 Benign
65201 Q9NZM1 (MYOF) R C 1399 rs11187393 Benign
65202 Q9NZM1 (MYOF) G A 1701 rs34000599 Benign
65203 Q9NZM1 (MYOF) R Q 1783 rs11594445 Benign
65204 Q9NZM3 (ITSN2) T A 254 rs6744320 Benign
65205 Q9NZM3 (ITSN2) V I 291 rs7603997 Benign
65206 Q9NZM3 (ITSN2) I T 1287 rs3731625 Benign
65207 Q9NZM3 (ITSN2) A T 1534 rs2303291 Benign
65208 Q9NZM4 (BICRA) P S 683 rs3745762 Benign
65209 Q9NZM4 (BICRA) T A 1044 rs13346368 Benign
65210 Q9NZM5 (NOP53) S R 16 rs1042401 Benign
65211 Q9NZM5 (NOP53) Q R 389 rs1804994 Benign
65212 Q9NZM6 (PKD2L2) V I 404 rs1880458 Benign
65213 Q9NZM6 (PKD2L2) L P 507 rs12187140 Benign
65214 Q9NZN1 (IL1RAPL1) K R 379 rs138267399 Benign
65215 Q9NZN1 (IL1RAPL1) Q H 618 rs890627874 Benign
65216 Q9NZN1 (IL1RAPL1) T S 637 rs756672167 Benign
65217 Q9NZN1 (IL1RAPL1) I V 643 rs746481663 Benign
65218 Q9NZN4 (EHD2) G S 57 rs34140460 Benign
65219 Q9NZN5 (ARHGEF12) Y F 973 rs2305013 Benign
65220 Q9NZN8 (CNOT2) A T 460 rs11178192 Benign
65221 Q9NZN9 (AIPL1) V A 33 rs16955859 Benign
65222 Q9NZN9 (AIPL1) D H 90 rs12449580 Benign
65223 Q9NZN9 (AIPL1) Y F 134 rs16955851 Benign
65224 Q9NZN9 (AIPL1) C R 239 rs62637012 Disease: Leber congenital amaurosis 4 (LCA4) [MIM:604393]
65225 Q9NZN9 (AIPL1) R H 270 - Disease: Leber congenital amaurosis 4 (LCA4) [MIM:604393]
65226 Q9NZN9 (AIPL1) R L 302 rs62637015 Benign
65227 Q9NZP0 (OR6C3) S L 69 rs4318060 Benign
65228 Q9NZP0 (OR6C3) M T 133 rs11835321 Benign
65229 Q9NZP0 (OR6C3) A S 234 rs11832940 Benign
65230 Q9NZP2 (OR6C2) P A 181 rs11171466 Benign
65231 Q9NZP2 (OR6C2) L P 209 rs11171467 Benign
65232 Q9NZP5 (OR5AC2) M I 200 rs4518168 Benign
65233 Q9NZP6 (NPAP1) P Q 34 rs35022251 Benign
65234 Q9NZP6 (NPAP1) W R 152 rs35870568 Benign
65235 Q9NZP6 (NPAP1) V A 212 rs3784246 Benign
65236 Q9NZP6 (NPAP1) G R 253 rs1563102 Benign
65237 Q9NZP6 (NPAP1) N S 282 rs7165533 Benign
65238 Q9NZP6 (NPAP1) P A 343 rs36025315 Benign
65239 Q9NZP6 (NPAP1) Q E 406 rs3742950 Benign
65240 Q9NZP6 (NPAP1) A T 757 rs36032407 Benign
65241 Q9NZP6 (NPAP1) T P 929 rs34413216 Benign
65242 Q9NZP8 (C1RL) I V 285 rs3742089 Benign
65243 Q9NZQ3 (NCKIPSD) T S 324 rs6785620 Benign
65244 Q9NZQ3 (NCKIPSD) Y S 660 rs17855516 Benign
65245 Q9NZQ8 (TRPM5) N S 235 rs886277 Benign
65246 Q9NZQ8 (TRPM5) V A 254 rs3986599 Benign
65247 Q9NZQ8 (TRPM5) V L 335 rs34350821 Benign
65248 Q9NZQ8 (TRPM5) A T 456 rs34551253 Benign
65249 Q9NZQ8 (TRPM5) R Q 578 rs4929982 Benign
65250 Q9NZQ9 (TMOD4) N S 336 rs11800088 Benign
65251 Q9NZR1 (TMOD2) P A 63 rs34791185 Benign
65252 Q9NZR2 (LRP1B) Q R 48 rs12990449 Benign
65253 Q9NZR2 (LRP1B) Q R 3140 rs34488772 Benign
65254 Q9NZR2 (LRP1B) R C 3157 rs371536401 Benign
65255 Q9NZR2 (LRP1B) E K 3458 rs1878740 Benign
65256 Q9NZR2 (LRP1B) Q K 3734 rs35546150 Benign
65257 Q9NZR2 (LRP1B) V L 4264 rs17386226 Benign
65258 Q9NZR4 (VSX1) L P 17 rs74315436 Disease: Keratoconus 1 (KTCN1) [MIM:148300]
65259 Q9NZR4 (VSX1) R S 131 rs6050307 Benign
65260 Q9NZR4 (VSX1) D E 144 rs140122268 Benign
65261 Q9NZR4 (VSX1) R W 166 rs74315432 Disease: Keratoconus 1 (KTCN1) [MIM:148300]
65262 Q9NZR4 (VSX1) Q H 175 rs771561481 Disease: Keratoconus 1 (KTCN1) [MIM:148300]
65263 Q9NZR4 (VSX1) A S 256 rs74315435 Disease: Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) [MIM:614195]
65264 Q9NZS2 (KLRF1) L F 67 rs2232548 Benign
65265 Q9NZS9 (BFAR) M R 140 rs11546303 Benign
65266 Q9NZS9 (BFAR) R H 245 rs35377618 Benign
65267 Q9NZT1 (CALML5) S G 58 rs11546426 Benign
65268 Q9NZT1 (CALML5) K R 74 rs10904516 Benign
65269 Q9NZT2 (OGFR) R S 545 rs6122313 Benign
65270 Q9NZT2 (OGFR) S T 577 rs6122315 Benign
65271 Q9NZU0 (FLRT3) Q K 69 rs398124653 Disease: Hypogonadotr opic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]
65272 Q9NZU0 (FLRT3) E G 97 rs398124651 Disease: Hypogonadotr opic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]
65273 Q9NZU0 (FLRT3) S I 144 rs398124652 Disease: Hypogonadotr opic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]
65274 Q9NZU0 (FLRT3) K R 339 rs398124654 Disease: Hypogonadotr opic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]
65275 Q9NZU0 (FLRT3) A T 377 rs8120693 Benign
65276 Q9NZU0 (FLRT3) H Q 400 rs6079391 Benign
65277 Q9NZU0 (FLRT3) I V 452 rs1393315241 Benign
65278 Q9NZU0 (FLRT3) E D 460 rs35253731 Benign
65279 Q9NZV1 (CRIM1) E K 502 rs12997487 Benign
65280 Q9NZV1 (CRIM1) V I 781 rs59929305 Benign
65281 Q9NZV5 (SELENON) T A 137 rs35019869 Benign
65282 Q9NZV5 (SELENON) C Y 142 rs7349185 Benign
65283 Q9NZV5 (SELENON) G E 273 rs121908182 Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65284 Q9NZV5 (SELENON) H R 293 rs776738184 Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65285 Q9NZV5 (SELENON) G S 315 rs121908188 Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65286 Q9NZV5 (SELENON) N I 340 rs749911126 Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65287 Q9NZV5 (SELENON) W S 453 rs121908186 Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65288 Q9NZV5 (SELENON) C G 462 rs121908187 Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65289 Q9NZV5 (SELENON) G V 463 - Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65290 Q9NZV5 (SELENON) R Q 466 rs121908185 Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65291 Q9NZV5 (SELENON) R Q 469 rs779162837 Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65292 Q9NZV5 (SELENON) R W 469 rs756927098 Disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
65293 Q9NZV5 (SELENON) N K 502 rs2294228 Benign
65294 Q9NZV7 (ZIM2) A T 110 rs2191432 Benign
65295 Q9NZV7 (ZIM2) Q R 408 rs8112407 Benign
65296 Q9NZV7 (ZIM2) R K 473 rs10422475 Benign
65297 Q9NZV8 (KCND2) V M 404 rs587777631 Disease: -
65298 Q9NZW4 (DSPP) Y D 6 rs121912988 Disease: Dentin dysplasia 2 (DTDP2) [MIM:125420]
65299 Q9NZW4 (DSPP) A V 15 rs121912989 Disease: Dentinogenes is imperfecta, Shields type 2 (DGI2) [MIM:125490]
65300 Q9NZW4 (DSPP) P S 17 rs121912986 Benign
65301 Q9NZW4 (DSPP) P L 17 - Disease: Dentinogenes is imperfecta, Shields type 3 (DGI3) [MIM:125500]
65302 Q9NZW4 (DSPP) P T 17 rs121912986 Disease: Deafness, autosomal dominant, 39, with dentinogenes is imperfecta 1 (DFNA39/DGI1 ) [MIM:605594]
65303 Q9NZW4 (DSPP) V D 18 - Disease: Dentinogenes is imperfecta, Shields type 2 (DGI2) [MIM:125490]
65304 Q9NZW4 (DSPP) V F 18 rs121912987 Disease: Dentinogenes is imperfecta, Shields type 3 (DGI3) [MIM:125500]
65305 Q9NZW4 (DSPP) R W 68 rs36094464 Disease: Dentinogenes is imperfecta, Shields type 2 (DGI2) [MIM:125490]
65306 Q9NZW4 (DSPP) D N 243 rs3750025 Benign
65307 Q9P003 (CNIH4) A G 3 rs12123896 Benign
65308 Q9P021 (CRIPT) C Y 3 rs757078301 Disease: Short stature with microcephaly and distinctive facies (SSMCF) [MIM:615789]
65309 Q9P032 (NDUFAF4) A P 3 rs1554197721 Disease: Mitochondria l complex I deficiency, nuclear type 15 (MC1DN15) [MIM:618237]
65310 Q9P032 (NDUFAF4) L P 65 rs63751061 Disease: Mitochondria l complex I deficiency, nuclear type 15 (MC1DN15) [MIM:618237]
65311 Q9P035 (HACD3) E K 56 rs11632737 Benign
65312 Q9P035 (HACD3) M L 269 rs2279854 Benign
65313 Q9P0G3 (KLK14) Q R 33 rs35287116 Benign
65314 Q9P0G3 (KLK14) H Y 45 rs2569491 Benign
65315 Q9P0G3 (KLK14) R H 64 rs2569490 Benign
65316 Q9P0J0 (NDUFA13) R H 57 rs752513525 Disease: Mitochondria l complex I deficiency, nuclear type 28 (MC1DN28) [MIM:618249]
65317 Q9P0K1 (ADAM22) P R 81 rs2279542 Benign
65318 Q9P0K1 (ADAM22) H Y 119 rs4728730 Benign
65319 Q9P0K1 (ADAM22) V I 207 rs17255978 Benign
65320 Q9P0K7 (RAI14) A T 44 rs17521570 Benign
65321 Q9P0K7 (RAI14) S N 45 rs35941954 Benign
65322 Q9P0K7 (RAI14) V L 499 rs10472941 Benign
65323 Q9P0K7 (RAI14) A S 870 rs1048944 Benign
65324 Q9P0K8 (FOXJ2) P R 229 rs35642012 Benign
65325 Q9P0K8 (FOXJ2) P S 310 rs2277415 Benign
65326 Q9P0L0 (VAPA) M T 8 rs1044163 Benign
65327 Q9P0L0 (VAPA) P L 104 rs1127666 Benign
65328 Q9P0L1 (ZKSCAN7) R C 24 rs35696191 Benign
65329 Q9P0L1 (ZKSCAN7) F S 153 rs13081859 Benign
65330 Q9P0L1 (ZKSCAN7) T I 342 rs34396823 Benign
65331 Q9P0L1 (ZKSCAN7) E K 359 rs34181686 Benign
65332 Q9P0L1 (ZKSCAN7) T A 432 rs9835485 Benign
65333 Q9P0L1 (ZKSCAN7) T I 483 rs9873604 Benign
65334 Q9P0L1 (ZKSCAN7) S F 746 rs34437520 Benign
65335 Q9P0L2 (MARK1) V M 530 rs56212551 Benign
65336 Q9P0L2 (MARK1) P L 578 rs55691439 Benign
65337 Q9P0L2 (MARK1) R G 645 rs12123778 Benign
65338 Q9P0L2 (MARK1) E G 691 rs55688276 Benign
65339 Q9P0L9 (PKD2L1) R Q 278 rs17112895 Benign
65340 Q9P0L9 (PKD2L1) R W 378 rs7909153 Benign
65341 Q9P0L9 (PKD2L1) V I 393 rs2278842 Benign
65342 Q9P0L9 (PKD2L1) R L 681 rs6584356 Benign
65343 Q9P0L9 (PKD2L1) A D 788 rs12782963 Benign
65344 Q9P0M2 (AKAP7) E K 26 rs7771473 Benign
65345 Q9P0M2 (AKAP7) S N 215 rs1190788 Benign
65346 Q9P0M4 (IL17C) R G 25 rs11465492 Benign
65347 Q9P0M9 (MRPL27) T A 24 rs17776919 Benign
65348 Q9P0N5 (TMEM216) R C 73 rs779526456 Disease: Joubert syndrome 2 (JBTS2) [MIM:608091]
65349 Q9P0N5 (TMEM216) R H 73 rs201108965 Disease: Meckel syndrome 2 (MKS2) [MIM:603194]
65350 Q9P0N5 (TMEM216) R L 73 rs201108965 Disease: Joubert syndrome 2 (JBTS2) [MIM:608091]
65351 Q9P0N5 (TMEM216) G A 77 rs386833830 Disease: Meckel syndrome 2 (MKS2) [MIM:603194]
65352 Q9P0N5 (TMEM216) L F 89 rs780098806 Disease: Joubert syndrome 2 (JBTS2) [MIM:608091]
65353 Q9P0N5 (TMEM216) L R 114 rs386833831 Disease: Meckel syndrome 2 (MKS2) [MIM:603194]
65354 Q9P0N8 (MARCHF2) A T 54 rs1133893 Benign
65355 Q9P0N8 (MARCHF2) R P 219 rs34099346 Benign
65356 Q9P0N9 (TBC1D7) L W 67 rs543580 Benign
65357 Q9P0N9 (TBC1D7) A T 136 rs9381921 Benign
65358 Q9P0P0 (RNF181) Y H 118 rs6643 Benign
65359 Q9P0S9 (TMEM14C) S R 106 rs1045961 Benign
65360 Q9P0S9 (TMEM14C) F L 108 rs1045964 Benign
65361 Q9P0S9 (TMEM14C) N I 109 rs1045967 Benign
65362 Q9P0S9 (TMEM14C) H D 112 rs1045986 Benign
65363 Q9P0U3 (SENP1) I V 193 rs17854369 Benign
65364 Q9P0U3 (SENP1) A T 280 rs35130318 Benign
65365 Q9P0U3 (SENP1) D G 350 rs17854368 Benign
65366 Q9P0V3 (SH3BP4) M T 155 rs3731644 Benign
65367 Q9P0V3 (SH3BP4) A T 197 rs3731646 Benign
65368 Q9P0V8 (SLAMF8) P T 5 rs2494514 Benign
65369 Q9P0V8 (SLAMF8) G S 99 rs34687326 Benign
65370 Q9P0V8 (SLAMF8) V M 129 rs3795331 Benign
65371 Q9P0V9 (SEPTIN10) L P 189 rs3829701 Benign
65372 Q9P0W0 (IFNK) I N 97 rs34933275 Benign
65373 Q9P0W0 (IFNK) K E 133 rs700785 Benign
65374 Q9P0W8 (SPATA7) D N 2 rs4904448 Benign
65375 Q9P0W8 (SPATA7) V M 74 rs3179969 Benign
65376 Q9P0W8 (SPATA7) F L 119 rs35137272 Benign
65377 Q9P0W8 (SPATA7) S N 165 rs17124662 Benign
65378 Q9P0W8 (SPATA7) G E 324 rs17124677 Benign
65379 Q9P0W8 (SPATA7) I T 332 rs534658921 Benign
65380 Q9P0W8 (SPATA7) R Q 534 rs10139784 Benign
65381 Q9P0X4 (CACNA1I) I V 1040 rs136853 Benign
65382 Q9P0X4 (CACNA1I) T M 1513 rs8141262 Benign
65383 Q9P0X4 (CACNA1I) G A 1782 rs2294369 Benign
65384 Q9P0X4 (CACNA1I) G R 1782 rs2294369 Benign
65385 Q9P107 (GMIP) D N 641 rs12003 Benign
65386 Q9P109 (GCNT4) V I 321 rs4704166 Benign
65387 Q9P109 (GCNT4) V L 321 rs4704166 Benign
65388 Q9P109 (GCNT4) P S 439 rs3811987 Benign
65389 Q9P126 (CLEC1B) I V 20 rs612593 Benign
65390 Q9P126 (CLEC1B) S P 24 rs2273986 Benign
65391 Q9P126 (CLEC1B) S F 28 rs2273987 Benign
65392 Q9P126 (CLEC1B) G D 64 rs583903 Benign
65393 Q9P127 (LUZP4) P S 14 rs10482480 Benign
65394 Q9P127 (LUZP4) T A 306 rs35314601 Benign
65395 Q9P1A6 (DLGAP2) P Q 419 rs2301963 Benign
65396 Q9P1A6 (DLGAP2) T M 620 rs7463888 Benign
65397 Q9P1Q0 (VPS54) S C 561 rs34015596 Benign
65398 Q9P1Q0 (VPS54) M I 912 rs11558741 Benign
65399 Q9P1Q5 (OR1A1) R H 128 rs4375699 Benign
65400 Q9P1Q5 (OR1A1) V M 233 rs17762735 Benign
65401 Q9P1Q5 (OR1A1) P S 285 rs769427 Benign
65402 Q9P1U0 (POLR1H) Q H 14 rs17187658 Benign
65403 Q9P1U1 (ACTR3B) R Q 250 rs2260545 Benign
65404 Q9P1V8 (SAMD15) L P 18 rs11844594 Benign
65405 Q9P1V8 (SAMD15) M I 168 rs45527334 Benign
65406 Q9P1V8 (SAMD15) K E 370 rs4903576 Benign
65407 Q9P1V8 (SAMD15) K E 454 rs2193595 Benign
65408 Q9P1W3 (TMEM63C) M V 654 rs2287384 Benign
65409 Q9P1W8 (SIRPG) V A 263 rs6043409 Benign
65410 Q9P1W8 (SIRPG) S L 286 rs6034239 Benign
65411 Q9P1W9 (PIM2) G D 138 rs35044770 Benign
65412 Q9P1W9 (PIM2) I V 280 rs35208542 Benign
65413 Q9P1Y5 (CAMSAP3) P S 335 rs3745358 Benign
65414 Q9P1Y6 (PHRF1) E A 1231 rs7116027 Benign
65415 Q9P1Y6 (PHRF1) A V 1374 rs7123948 Benign
65416 Q9P1Y6 (PHRF1) V A 1449 rs11246212 Benign
65417 Q9P1Z0 (ZBTB4) A V 539 rs35231078 Benign
65418 Q9P1Z0 (ZBTB4) M I 550 rs871990 Benign
65419 Q9P1Z0 (ZBTB4) N S 561 rs34914463 Benign
65420 Q9P1Z2 (CALCOCO1) R K 393 rs3741659 Benign
65421 Q9P1Z3 (HCN3) P L 630 rs35001694 Benign
65422 Q9P1Z9 (CCDC180) P H 162 rs7864805 Benign
65423 Q9P1Z9 (CCDC180) S R 183 rs17855671 Benign
65424 Q9P1Z9 (CCDC180) L H 234 rs10981558 Benign
65425 Q9P1Z9 (CCDC180) P R 409 rs61261278 Benign
65426 Q9P1Z9 (CCDC180) E K 778 rs12353306 Benign
65427 Q9P1Z9 (CCDC180) S C 856 rs2061634 Benign
65428 Q9P1Z9 (CCDC180) F L 1175 rs3747495 Benign
65429 Q9P1Z9 (CCDC180) D N 1573 rs2306093 Benign
65430 Q9P202 (WHRN) H R 364 rs10817610 Benign
65431 Q9P202 (WHRN) R P 423 rs35003670 Benign
65432 Q9P202 (WHRN) A T 440 rs4978584 Benign
65433 Q9P202 (WHRN) A S 443 rs11539662 Benign
65434 Q9P202 (WHRN) P A 562 rs12339210 Benign
65435 Q9P202 (WHRN) M T 613 rs942519 Benign
65436 Q9P202 (WHRN) Q H 752 rs6478078 Benign
65437 Q9P202 (WHRN) V A 783 rs2274159 Benign
65438 Q9P202 (WHRN) N K 796 rs2274158 Benign
65439 Q9P202 (WHRN) T M 813 rs942519 Benign
65440 Q9P206 (KIAA1522) P S 57 rs11803515 Benign
65441 Q9P206 (KIAA1522) S P 114 rs3737994 Benign
65442 Q9P206 (KIAA1522) M V 232 rs12730560 Benign
65443 Q9P206 (KIAA1522) L I 310 rs11582639 Benign
65444 Q9P206 (KIAA1522) P L 770 rs581875 Benign
65445 Q9P206 (KIAA1522) E K 1021 rs675928 Benign
65446 Q9P209 (CEP72) P L 238 rs869955 Benign
65447 Q9P209 (CEP72) P T 412 rs12522955 Benign
65448 Q9P209 (CEP72) T A 509 rs868649 Benign
65449 Q9P212 (PLCE1) S T 469 rs17508082 Benign
65450 Q9P212 (PLCE1) R L 548 rs17417407 Benign
65451 Q9P212 (PLCE1) S L 1484 rs121912605 Disease: Nephrotic syndrome 3 (NPHS3) [MIM:610725]
65452 Q9P212 (PLCE1) R P 1575 rs2274224 Benign
65453 Q9P212 (PLCE1) T I 1777 rs3765524 Benign
65454 Q9P212 (PLCE1) H R 1927 rs2274223 Benign
65455 Q9P217 (ZSWIM5) V G 368 rs12733746 Benign
65456 Q9P218 (COL20A1) P L 134 rs753686 Benign
65457 Q9P219 (CCDC88C) R H 464 rs587782989 Disease: Spinocerebel lar ataxia 40 (SCA40) [MIM:616053]
65458 Q9P219 (CCDC88C) L V 637 rs7160308 Benign
65459 Q9P219 (CCDC88C) A E 811 rs17127223 Benign
65460 Q9P219 (CCDC88C) A V 1028 rs1970911 Benign
65461 Q9P219 (CCDC88C) L P 1992 rs941920 Benign
65462 Q9P225 (DNAH2) A V 100 rs35664870 Benign
65463 Q9P225 (DNAH2) S T 312 rs3744254 Benign
65464 Q9P225 (DNAH2) E G 1326 rs11868946 Benign
65465 Q9P225 (DNAH2) R H 2548 rs11656500 Benign
65466 Q9P225 (DNAH2) R H 2904 rs2309808 Benign
65467 Q9P225 (DNAH2) T I 3600 rs7213894 Benign
65468 Q9P232 (CNTN3) S N 630 rs626578 Benign
65469 Q9P232 (CNTN3) N S 708 rs626578 Benign
65470 Q9P241 (ATP10D) T I 43 rs33995001 Benign
65471 Q9P241 (ATP10D) C R 171 rs7683838 Benign
65472 Q9P241 (ATP10D) T I 320 rs35596623 Benign
65473 Q9P241 (ATP10D) A T 337 rs35012290 Benign
65474 Q9P241 (ATP10D) N S 511 rs10003238 Benign
65475 Q9P241 (ATP10D) F L 522 rs6843325 Benign
65476 Q9P241 (ATP10D) P T 716 rs34208443 Benign
65477 Q9P241 (ATP10D) N S 720 rs34169638 Benign
65478 Q9P241 (ATP10D) S N 959 rs17462252 Benign
65479 Q9P241 (ATP10D) R K 1183 rs16851681 Benign
65480 Q9P241 (ATP10D) V I 1240 rs1058793 Benign
65481 Q9P241 (ATP10D) S T 1389 rs4145944 Benign
65482 Q9P241 (ATP10D) A G 1392 rs35375547 Benign
65483 Q9P242 (NYAP2) T A 205 rs7422680 Benign
65484 Q9P242 (NYAP2) T P 586 rs3748993 Benign
65485 Q9P243 (ZFAT) G R 64 rs17778003 Benign
65486 Q9P243 (ZFAT) P S 102 rs12541381 Benign
65487 Q9P243 (ZFAT) R K 672 rs35003767 Benign
65488 Q9P255 (ZNF492) T K 106 rs11672238 Benign
65489 Q9P265 (DIP2B) I V 792 rs11169525 Benign
65490 Q9P266 (JCAD) E D 487 rs7917573 Benign
65491 Q9P266 (JCAD) D N 494 rs7917566 Benign
65492 Q9P266 (JCAD) E A 729 rs7901855 Benign
65493 Q9P266 (JCAD) R G 957 rs2185724 Benign
65494 Q9P266 (JCAD) S T 1002 rs3739998 Benign
65495 Q9P266 (JCAD) A G 1095 rs12240677 Benign
65496 Q9P267 (MBD5) S N 677 rs114314967 Benign
65497 Q9P272 (TRMT9B) H R 150 rs528255 Benign
65498 Q9P272 (TRMT9B) C G 207 rs3739310 Benign
65499 Q9P272 (TRMT9B) P T 219 rs505480 Benign
65500 Q9P272 (TRMT9B) I T 265 rs3739308 Benign
65501 Q9P272 (TRMT9B) G E 304 rs502882 Benign
65502 Q9P272 (TRMT9B) H L 337 rs34995506 Benign
65503 Q9P272 (TRMT9B) R G 451 rs608052 Benign
65504 Q9P273 (TENM3) S C 385 rs3749509 Benign
65505 Q9P275 (USP36) V I 271 rs3744793 Benign
65506 Q9P275 (USP36) I M 489 rs3744795 Benign
65507 Q9P275 (USP36) R Q 775 rs9889908 Benign
65508 Q9P275 (USP36) Q R 806 rs3088040 Benign
65509 Q9P275 (USP36) K N 814 rs3744797 Benign
65510 Q9P275 (USP36) R C 828 rs1057040 Benign
65511 Q9P275 (USP36) R P 887 rs61760231 Benign
65512 Q9P278 (FNIP2) T S 298 rs2276938 Benign
65513 Q9P281 (BAHCC1) A T 272 rs12952981 Benign
65514 Q9P281 (BAHCC1) T A 1168 rs7213444 Benign
65515 Q9P281 (BAHCC1) R Q 1434 rs35572189 Benign
65516 Q9P281 (BAHCC1) T A 1678 rs12601317 Benign
65517 Q9P281 (BAHCC1) V I 2029 rs34680524 Benign
65518 Q9P281 (BAHCC1) R C 2510 rs8746 Benign
65519 Q9P283 (SEMA5B) I T 220 rs2276774 Benign
65520 Q9P283 (SEMA5B) M T 742 rs2276781 Benign
65521 Q9P283 (SEMA5B) V D 840 rs2276782 Benign
65522 Q9P283 (SEMA5B) S P 996 rs35306342 Benign
65523 Q9P283 (SEMA5B) D G 1028 rs2303983 Benign
65524 Q9P286 (PAK5) G D 118 rs55923311 Benign
65525 Q9P286 (PAK5) P A 187 rs34280805 Benign
65526 Q9P286 (PAK5) R P 335 rs11700112 Benign
65527 Q9P286 (PAK5) S N 511 rs2297345 Benign
65528 Q9P286 (PAK5) A S 555 rs34102290 Benign
65529 Q9P287 (BCCIP) E Q 254 rs17153610 Benign
65530 Q9P289 (STK26) Q R 9 rs56035648 Benign
65531 Q9P289 (STK26) R C 45 rs56044451 Benign
65532 Q9P296 (C5AR2) P L 233 rs149572881 Benign
65533 Q9P296 (C5AR2) S I 323 rs150599989 Benign
65534 Q9P298 (HIGD1B) S N 86 rs1071682 Benign
65535 Q9P298 (HIGD1B) D N 87 rs2231650 Benign
65536 Q9P2A4 (ABI3) R Q 44 rs2233369 Benign
65537 Q9P2A4 (ABI3) S F 203 rs616338 Benign
65538 Q9P2A4 (ABI3) F S 209 rs616338 Benign
65539 Q9P2B2 (PTGFRN) S T 277 rs4546904 Benign
65540 Q9P2B2 (PTGFRN) V I 837 rs10801922 Benign
65541 Q9P2B4 (CTTNBP2NL) V M 296 rs1175640 Benign
65542 Q9P2B4 (CTTNBP2NL) S G 409 rs12137578 Benign
65543 Q9P2B7 (CFAP97) T A 238 rs1133657 Benign
65544 Q9P2B7 (CFAP97) L S 443 rs6820332 Benign
65545 Q9P2D0 (IBTK) V I 1065 rs12662902 Benign
65546 Q9P2D0 (IBTK) A V 1185 rs9449444 Benign
65547 Q9P2D1 (CHD7) M L 37 rs1416709395 Benign
65548 Q9P2D1 (CHD7) H R 55 rs121434345 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65549 Q9P2D1 (CHD7) T A 93 rs398124317 Benign
65550 Q9P2D1 (CHD7) S T 103 rs41272435 Benign
65551 Q9P2D1 (CHD7) G D 117 rs372110761 Benign
65552 Q9P2D1 (CHD7) P L 167 rs61742851 Benign
65553 Q9P2D1 (CHD7) Q R 201 rs764496155 Benign
65554 Q9P2D1 (CHD7) V L 238 rs200898742 Benign
65555 Q9P2D1 (CHD7) R G 286 rs61995713 Benign
65556 Q9P2D1 (CHD7) M V 340 rs41305525 Benign
65557 Q9P2D1 (CHD7) P A 369 rs766747354 Benign
65558 Q9P2D1 (CHD7) S L 466 rs71640285 Benign
65559 Q9P2D1 (CHD7) L V 511 - Benign
65560 Q9P2D1 (CHD7) G V 522 rs142962579 Benign
65561 Q9P2D1 (CHD7) H P 524 rs78962949 Benign
65562 Q9P2D1 (CHD7) S A 527 - Benign
65563 Q9P2D1 (CHD7) Q K 596 - Benign
65564 Q9P2D1 (CHD7) G V 636 rs529321177 Benign
65565 Q9P2D1 (CHD7) G S 744 rs141947938 Benign
65566 Q9P2D1 (CHD7) R H 758 rs202208393 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65567 Q9P2D1 (CHD7) K N 812 rs61978638 Benign
65568 Q9P2D1 (CHD7) S F 834 rs121434344 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65569 Q9P2D1 (CHD7) W C 840 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65570 Q9P2D1 (CHD7) E D 871 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65571 Q9P2D1 (CHD7) R W 886 rs772260091 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65572 Q9P2D1 (CHD7) R S 944 rs587783435 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65573 Q9P2D1 (CHD7) L S 1020 rs1057521077 Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65574 Q9P2D1 (CHD7) I V 1028 rs121434338 Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65575 Q9P2D1 (CHD7) N S 1030 rs886041167 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65576 Q9P2D1 (CHD7) W G 1031 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65577 Q9P2D1 (CHD7) W R 1031 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65578 Q9P2D1 (CHD7) T N 1082 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65579 Q9P2D1 (CHD7) C R 1101 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65580 Q9P2D1 (CHD7) Q R 1214 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65581 Q9P2D1 (CHD7) L R 1257 rs121434339 Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65582 Q9P2D1 (CHD7) K E 1291 - Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65583 Q9P2D1 (CHD7) L P 1292 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65584 Q9P2D1 (CHD7) L P 1294 rs864309609 Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65585 Q9P2D1 (CHD7) L P 1302 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65586 Q9P2D1 (CHD7) C R 1318 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65587 Q9P2D1 (CHD7) R H 1345 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65588 Q9P2D1 (CHD7) L F 1375 - Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65589 Q9P2D1 (CHD7) Q H 1395 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65590 Q9P2D1 (CHD7) P S 1594 - Benign
65591 Q9P2D1 (CHD7) A V 1672 rs61737194 Benign
65592 Q9P2D1 (CHD7) G S 1684 rs1554602465 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65593 Q9P2D1 (CHD7) L R 1739 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65594 Q9P2D1 (CHD7) V D 1742 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65595 Q9P2D1 (CHD7) G V 1797 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65596 Q9P2D1 (CHD7) G D 1802 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65597 Q9P2D1 (CHD7) D G 1812 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65598 Q9P2D1 (CHD7) D H 1812 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65599 Q9P2D1 (CHD7) L P 1815 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65600 Q9P2D1 (CHD7) M V 1838 rs759918327 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65601 Q9P2D1 (CHD7) R G 1912 - Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65602 Q9P2D1 (CHD7) A G 1972 rs1013310877 Benign
65603 Q9P2D1 (CHD7) R W 2062 rs886063038 Benign
65604 Q9P2D1 (CHD7) R C 2065 - Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65605 Q9P2D1 (CHD7) R S 2065 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65606 Q9P2D1 (CHD7) W R 2091 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65607 Q9P2D1 (CHD7) H R 2096 rs587783451 Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65608 Q9P2D1 (CHD7) G R 2108 rs121434343 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65609 Q9P2D1 (CHD7) G W 2108 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65610 Q9P2D1 (CHD7) I N 2116 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65611 Q9P2D1 (CHD7) N D 2118 - Benign
65612 Q9P2D1 (CHD7) A T 2160 rs61753399 Benign
65613 Q9P2D1 (CHD7) A T 2225 rs374408098 Benign
65614 Q9P2D1 (CHD7) G A 2286 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65615 Q9P2D1 (CHD7) R S 2319 rs121434341 Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65616 Q9P2D1 (CHD7) G A 2330 rs77704609 Benign
65617 Q9P2D1 (CHD7) R G 2398 - Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65618 Q9P2D1 (CHD7) A S 2415 rs41315633 Benign
65619 Q9P2D1 (CHD7) R G 2418 - Disease: CHARGE syndrome (CHARGES) [MIM:214800]
65620 Q9P2D1 (CHD7) G D 2488 rs398124324 Benign
65621 Q9P2D1 (CHD7) R C 2491 rs755492299 Benign
65622 Q9P2D1 (CHD7) M L 2527 rs192129249 Benign
65623 Q9P2D1 (CHD7) R Q 2653 rs747082615 Benign
65624 Q9P2D1 (CHD7) I V 2725 rs113877656 Benign
65625 Q9P2D1 (CHD7) F L 2750 rs3750308 Benign
65626 Q9P2D1 (CHD7) A V 2780 rs775132352 Benign
65627 Q9P2D1 (CHD7) A T 2789 rs200140270 Benign
65628 Q9P2D1 (CHD7) L V 2806 rs45521933 Benign
65629 Q9P2D1 (CHD7) Q P 2833 - Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65630 Q9P2D1 (CHD7) S A 2857 - Benign
65631 Q9P2D1 (CHD7) P L 2880 rs113938624 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65632 Q9P2D1 (CHD7) K E 2948 rs1467824778 Disease: Hypogonadotr opic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
65633 Q9P2D1 (CHD7) L F 2984 rs184814820 Benign
65634 Q9P2D3 (HEATR5B) S P 1601 rs2302657 Benign
65635 Q9P2D6 (FAM135A) I V 725 rs9455142 Benign
65636 Q9P2D6 (FAM135A) P S 954 rs16869301 Benign
65637 Q9P2D6 (FAM135A) D G 1242 rs2747701 Benign
65638 Q9P2D7 (DNAH1) E D 205 rs10460963 Benign
65639 Q9P2D7 (DNAH1) V L 441 rs13060192 Benign
65640 Q9P2D7 (DNAH1) K Q 1154 rs544674332 Disease: Ciliary dyskinesia, primary, 37 (CILD37) [MIM:617577]
65641 Q9P2D7 (DNAH1) V G 1287 rs1131692251 Disease: Spermatogeni c failure 18 (SPGF18) [MIM:617576]
65642 Q9P2D7 (DNAH1) D N 1293 rs140883175 Disease: Spermatogeni c failure 18 (SPGF18) [MIM:617576]
65643 Q9P2D7 (DNAH1) V M 1502 rs17052095 Benign
65644 Q9P2D7 (DNAH1) R C 1663 rs17052097 Benign
65645 Q9P2D7 (DNAH1) N S 2384 rs56002041 Benign
65646 Q9P2D7 (DNAH1) H R 3832 rs365048 Benign
65647 Q9P2D8 (UNC79) V A 1597 rs28670114 Benign
65648 Q9P2D8 (UNC79) V I 1670 rs4905081 Benign
65649 Q9P2D8 (UNC79) K R 2183 rs2296687 Benign
65650 Q9P2D8 (UNC79) G S 2444 rs7359096 Benign
65651 Q9P2E2 (KIF17) I V 341 rs2296225 Benign
65652 Q9P2E2 (KIF17) S R 369 rs56750936 Benign
65653 Q9P2E2 (KIF17) V M 402 rs522496 Benign
65654 Q9P2E2 (KIF17) V I 675 rs558760 Benign
65655 Q9P2E2 (KIF17) V I 735 rs13375609 Benign
65656 Q9P2E2 (KIF17) D E 933 rs631357 Benign
65657 Q9P2E3 (ZNFX1) L V 864 rs2664578 Benign
65658 Q9P2E3 (ZNFX1) T A 910 rs2273148 Benign
65659 Q9P2E3 (ZNFX1) Q H 924 rs238221 Benign
65660 Q9P2E3 (ZNFX1) M I 1259 rs6512577 Benign
65661 Q9P2E3 (ZNFX1) G S 1297 rs36068952 Benign
65662 Q9P2E3 (ZNFX1) T I 1351 rs238209 Benign
65663 Q9P2E9 (RRBP1) R L 1324 rs1132274 Benign
65664 Q9P2F6 (ARHGAP20) A T 522 rs7936020 Benign
65665 Q9P2F6 (ARHGAP20) G D 632 rs17853925 Benign
65666 Q9P2F8 (SIPA1L2) T A 49 rs16857502 Benign
65667 Q9P2F8 (SIPA1L2) T A 1322 rs2275307 Benign
65668 Q9P2F8 (SIPA1L2) S L 1403 rs1547742 Benign
65669 Q9P2F8 (SIPA1L2) M L 1424 rs3210731 Benign
65670 Q9P2F8 (SIPA1L2) G S 1639 rs2275303 Benign
65671 Q9P2G1 (ANKIB1) L M 1016 rs38794 Benign
65672 Q9P2G9 (KLHL8) P R 520 rs17854114 Benign
65673 Q9P2H0 (CEP126) A T 178 rs11225086 Benign
65674 Q9P2H0 (CEP126) G C 238 rs7926728 Benign
65675 Q9P2H0 (CEP126) S Y 275 rs11225089 Benign
65676 Q9P2H0 (CEP126) I T 281 rs11225090 Benign
65677 Q9P2H0 (CEP126) A T 302 rs11225091 Benign
65678 Q9P2H0 (CEP126) G S 668 rs76022391 Benign
65679 Q9P2H0 (CEP126) P S 710 rs7109614 Benign
65680 Q9P2H0 (CEP126) M T 1021 rs7111429 Benign
65681 Q9P2H0 (CEP126) S N 1077 rs6590942 Benign
65682 Q9P2H3 (IFT80) H Q 105 rs137853115 Disease: Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]
65683 Q9P2H3 (IFT80) T S 586 rs6778728 Benign
65684 Q9P2H3 (IFT80) A P 701 rs137853116 Disease: Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]
65685 Q9P2H5 (USP35) V M 236 rs2510044 Benign
65686 Q9P2J2 (IGSF9) G E 34 rs3747617 Benign
65687 Q9P2J2 (IGSF9) R P 474 rs16842846 Benign
65688 Q9P2J2 (IGSF9) P L 914 rs35574000 Benign
65689 Q9P2J2 (IGSF9) S T 1026 rs34749866 Benign
65690 Q9P2J2 (IGSF9) P T 1117 rs1319080 Benign
65691 Q9P2J5 (LARS1) K R 82 rs112954500 Benign
65692 Q9P2J5 (LARS1) Y C 373 rs201861847 Disease: Infantile liver failure syndrome 1 (ILFS1) [MIM:615438]
65693 Q9P2J5 (LARS1) R K 1088 rs10988 Benign
65694 Q9P2J8 (ZNF624) K N 135 rs8065506 Benign
65695 Q9P2K1 (CC2D2A) E A 376 rs16892095 Benign
65696 Q9P2K1 (CC2D2A) K E 507 rs144439937 Benign
65697 Q9P2K1 (CC2D2A) L P 559 rs754221308 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65698 Q9P2K1 (CC2D2A) V I 660 rs16892134 Benign
65699 Q9P2K1 (CC2D2A) L I 684 rs190698163 Benign
65700 Q9P2K1 (CC2D2A) L V 701 rs537906621 Benign
65701 Q9P2K1 (CC2D2A) P S 721 rs199768782 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65702 Q9P2K1 (CC2D2A) K E 800 rs751256652 Benign
65703 Q9P2K1 (CC2D2A) V A 1045 rs863225173 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65704 Q9P2K1 (CC2D2A) Q H 1096 rs863225169 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65705 Q9P2K1 (CC2D2A) T M 1114 rs386833752 Disease: Meckel syndrome 6 (MKS6) [MIM:612284]
65706 Q9P2K1 (CC2D2A) T M 1116 rs267606709 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65707 Q9P2K1 (CC2D2A) P S 1122 rs118204051 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65708 Q9P2K1 (CC2D2A) E K 1126 rs1473532901 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65709 Q9P2K1 (CC2D2A) V A 1151 rs863225170 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65710 Q9P2K1 (CC2D2A) W R 1182 rs386833755 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65711 Q9P2K1 (CC2D2A) R C 1284 rs779823379 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65712 Q9P2K1 (CC2D2A) R H 1284 rs754586025 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65713 Q9P2K1 (CC2D2A) V A 1430 rs863225168 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65714 Q9P2K1 (CC2D2A) E A 1447 rs387907058 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65715 Q9P2K1 (CC2D2A) N S 1520 rs1478902342 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65716 Q9P2K1 (CC2D2A) R C 1528 rs118204052 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65717 Q9P2K1 (CC2D2A) L P 1551 rs763425007 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65718 Q9P2K1 (CC2D2A) D V 1556 rs201502401 Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65719 Q9P2K1 (CC2D2A) Y H 1568 - Disease: Joubert syndrome 9 (JBTS9) [MIM:612285]
65720 Q9P2K2 (TXNDC16) S N 136 rs28759013 Benign
65721 Q9P2K2 (TXNDC16) N Y 152 rs28593180 Benign
65722 Q9P2K2 (TXNDC16) E K 486 rs7155490 Benign
65723 Q9P2K3 (RCOR3) K R 42 rs17856928 Benign
65724 Q9P2K5 (MYEF2) A T 91 rs8023906 Benign
65725 Q9P2K5 (MYEF2) Q R 426 rs2470103 Benign
65726 Q9P2K5 (MYEF2) S G 465 rs36075490 Benign
65727 Q9P2K8 (EIF2AK4) H R 137 rs35509999 Benign
65728 Q9P2K8 (EIF2AK4) R W 166 rs34439704 Benign
65729 Q9P2K8 (EIF2AK4) I L 441 rs2291627 Benign
65730 Q9P2K8 (EIF2AK4) R Q 585 rs587777106 Disease: Pulmonary venoocclusiv e disease 2, autosomal recessive (PVOD2) [MIM:234810]
65731 Q9P2K8 (EIF2AK4) L R 643 rs757852728 Disease: Pulmonary venoocclusiv e disease 2, autosomal recessive (PVOD2) [MIM:234810]
65732 Q9P2K8 (EIF2AK4) D V 872 rs34665481 Benign
65733 Q9P2K8 (EIF2AK4) T R 1060 rs55781333 Benign
65734 Q9P2K8 (EIF2AK4) G C 1306 rs35602605 Benign
65735 Q9P2K8 (EIF2AK4) K R 1336 rs35480871 Benign
65736 Q9P2K8 (EIF2AK4) Q H 1406 rs55721315 Benign
65737 Q9P2K9 (DISP3) G R 39 rs41274528 Benign
65738 Q9P2K9 (DISP3) L V 51 rs3738159 Benign
65739 Q9P2K9 (DISP3) G S 182 rs2817580 Benign
65740 Q9P2K9 (DISP3) A T 650 rs2072994 Benign
65741 Q9P2K9 (DISP3) G A 661 rs2072993 Benign
65742 Q9P2K9 (DISP3) R H 948 rs12096312 Benign
65743 Q9P2L0 (WDR35) Q R 18 rs1060742 Benign
65744 Q9P2L0 (WDR35) W R 261 rs431905505 Disease: Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091]
65745 Q9P2L0 (WDR35) W L 311 rs200649783 Disease: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic (SRTD7/20) [MIM:614091]
65746 Q9P2L0 (WDR35) R K 478 - Disease: Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091]
65747 Q9P2L0 (WDR35) E G 626 rs267607174 Disease: Cranioectode rmal dysplasia 2 (CED2) [MIM:613610]
65748 Q9P2L0 (WDR35) A T 875 rs267607175 Disease: Cranioectode rmal dysplasia 2 (CED2) [MIM:613610]
65749 Q9P2L0 (WDR35) A P 878 rs2293669 Benign
65750 Q9P2L0 (WDR35) A T 878 rs2293669 Benign
65751 Q9P2L0 (WDR35) E G 983 rs1191778 Benign
65752 Q9P2M4 (TBC1D14) L V 41 rs34860182 Benign
65753 Q9P2M4 (TBC1D14) E Q 446 rs11731231 Benign
65754 Q9P2M7 (CGN) R Q 479 rs12038198 Benign
65755 Q9P2N2 (ARHGAP28) I V 168 rs2303978 Benign
65756 Q9P2N2 (ARHGAP28) T S 190 rs6506448 Benign
65757 Q9P2N2 (ARHGAP28) Q P 727 rs1056408 Benign
65758 Q9P2N4 (ADAMTS9) S P 96 rs36115950 Benign
65759 Q9P2N4 (ADAMTS9) S T 96 rs36115950 Benign
65760 Q9P2N4 (ADAMTS9) K E 1579 rs17071010 Benign
65761 Q9P2N4 (ADAMTS9) D E 1674 rs6787633 Benign
65762 Q9P2N4 (ADAMTS9) K R 1740 rs17070967 Benign
65763 Q9P2N4 (ADAMTS9) E Q 1791 rs3796381 Benign
65764 Q9P2N4 (ADAMTS9) K E 1921 rs17070909 Benign
65765 Q9P2N4 (ADAMTS9) R Q 1933 rs17070905 Benign
65766 Q9P2N6 (KANSL3) V I 707 rs34406082 Benign
65767 Q9P2N7 (KLHL13) T S 261 rs141912385 Benign
65768 Q9P2P1 (NYNRIN) T M 457 rs12437434 Benign
65769 Q9P2P1 (NYNRIN) A V 659 rs8008203 Benign
65770 Q9P2P1 (NYNRIN) A T 978 rs8017377 Benign
65771 Q9P2P1 (NYNRIN) E K 997 rs3742518 Benign
65772 Q9P2P1 (NYNRIN) I V 1551 rs17103672 Benign
65773 Q9P2P5 (HECW2) R Q 1191 rs878854416 Disease: Neurodevelop mental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268]
65774 Q9P2P5 (HECW2) F V 1193 rs878854422 Disease: Neurodevelop mental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268]
65775 Q9P2P5 (HECW2) R W 1330 rs878854417 Disease: Neurodevelop mental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268]
65776 Q9P2P5 (HECW2) E G 1445 rs878854424 Disease: Neurodevelop mental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268]
65777 Q9P2P6 (STARD9) R C 835 rs12594837 Benign
65778 Q9P2P6 (STARD9) R C 1172 rs12594837 Benign
65779 Q9P2P6 (STARD9) P L 1720 rs7161810 Benign
65780 Q9P2P6 (STARD9) A V 2205 rs16957055 Benign
65781 Q9P2P6 (STARD9) R H 2677 rs8030587 Benign
65782 Q9P2P6 (STARD9) T I 2855 rs8031218 Benign
65783 Q9P2P6 (STARD9) P S 2869 rs11857283 Benign
65784 Q9P2P6 (STARD9) R G 3015 rs3742995 Benign
65785 Q9P2P6 (STARD9) N D 3383 rs3742993 Benign
65786 Q9P2P6 (STARD9) Y C 3469 rs16957061 Benign
65787 Q9P2Q2 (FRMD4A) Q H 242 rs11258565 Benign
65788 Q9P2R7 (SUCLA2) V M 13 rs35201084 Benign
65789 Q9P2R7 (SUCLA2) G R 118 rs121908537 Disease: Mitochondria l DNA depletion syndrome 5 (MTDPS5) [MIM:612073]
65790 Q9P2R7 (SUCLA2) S T 199 rs7320366 Benign
65791 Q9P2R7 (SUCLA2) D N 251 rs397515462 Disease: Mitochondria l DNA depletion syndrome 5 (MTDPS5) [MIM:612073]
65792 Q9P2R7 (SUCLA2) R C 284 rs121908538 Disease: Mitochondria l DNA depletion syndrome 5 (MTDPS5) [MIM:612073]
65793 Q9P2S2 (NRXN2) L Q 81 rs12273892 Benign
65794 Q9P2S5 (WRAP73) I M 331 rs2760320 Benign
65795 Q9P2S5 (WRAP73) V I 358 rs16823940 Benign
65796 Q9P2S6 (ANKMY1) D N 89 rs35278753 Benign
65797 Q9P2S6 (ANKMY1) I M 424 rs35996697 Benign
65798 Q9P2S6 (ANKMY1) D V 451 rs3796118 Benign
65799 Q9P2S6 (ANKMY1) V L 472 rs3821348 Benign
65800 Q9P2S6 (ANKMY1) T M 649 rs35044862 Benign
65801 Q9P2T0 (THEG) R I 202 rs2303810 Benign
65802 Q9P2T0 (THEG) R Q 267 rs2278287 Benign
65803 Q9P2T0 (THEG) H Y 297 rs10422863 Benign
65804 Q9P2T0 (THEG) D N 353 rs3764656 Benign
65805 Q9P2T1 (GMPR2) G D 242 rs34354104 Benign
65806 Q9P2U7 (SLC17A7) P R 431 rs17855709 Benign
65807 Q9P2U8 (SLC17A6) N S 551 rs7117340 Benign
65808 Q9P2V4 (LRIT1) L M 154 rs11200933 Benign
65809 Q9P2V4 (LRIT1) P Q 258 rs7090059 Benign
65810 Q9P2V4 (LRIT1) P T 389 rs12262099 Benign
65811 Q9P2V4 (LRIT1) S G 591 rs3814211 Benign
65812 Q9P2W1 (PSMC3IP) Y N 163 rs2292754 Benign
65813 Q9P2W7 (B3GAT1) A T 131 rs35434644 Benign
65814 Q9P2W9 (STX18) D Y 32 rs13134070 Benign
65815 Q9P2W9 (STX18) S G 51 rs36109375 Benign
65816 Q9P2W9 (STX18) S T 228 rs33952588 Benign
65817 Q9P2X0 (DPM3) L S 85 rs121908155 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C15 (MDDGC15) [MIM:612937]
65818 Q9P2X3 (IMPACT) A V 74 rs544203385 Benign
65819 Q9P2X3 (IMPACT) D E 125 rs582234 Benign
65820 Q9P2X3 (IMPACT) L V 151 rs677688 Benign
65821 Q9P2X7 (DELEC1) A V 60 rs2269700 Benign
65822 Q9P2Y4 (ZNF219) P T 260 rs17853549 Benign
65823 Q9P2Y5 (UVRAG) P H 10 rs7118567 Benign
65824 Q9UBB9 (TFIP11) N S 177 rs6005062 Benign
65825 Q9UBC0 (ONECUT1) P A 75 rs74805019 Benign
65826 Q9UBC1 (NFKBIL1) C R 224 rs3130062 Benign
65827 Q9UBC3 (DNMT3B) R P 54 rs17123590 Benign
65828 Q9UBC3 (DNMT3B) S P 270 rs121908947 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65829 Q9UBC3 (DNMT3B) C R 527 - Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
65830 Q9UBC3 (DNMT3B) A T 585 rs750849178 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65831 Q9UBC3 (DNMT3B) A V 585 - Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65832 Q9UBC3 (DNMT3B) A T 603 rs121908943 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65833 Q9UBC3 (DNMT3B) V A 606 rs867732105 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65834 Q9UBC3 (DNMT3B) G S 663 rs121908942 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65835 Q9UBC3 (DNMT3B) L P 664 - Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65836 Q9UBC3 (DNMT3B) P L 691 rs889145646 Disease: Facioscapulo humeral muscular dystrophy 2 (FSHD2) [MIM:158901]
65837 Q9UBC3 (DNMT3B) V G 699 - Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65838 Q9UBC3 (DNMT3B) V G 726 rs121908941 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65839 Q9UBC3 (DNMT3B) A P 766 rs1191203668 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65840 Q9UBC3 (DNMT3B) H R 814 rs1219696128 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65841 Q9UBC3 (DNMT3B) D G 817 rs121908939 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65842 Q9UBC3 (DNMT3B) V M 818 rs121908940 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65843 Q9UBC3 (DNMT3B) R Q 840 rs121908946 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 1 (ICF1) [MIM:242860]
65844 Q9UBC5 (MYO1A) P L 426 rs4759043 Benign
65845 Q9UBC5 (MYO1A) C S 506 rs12297756 Benign
65846 Q9UBC5 (MYO1A) F L 600 rs2270738 Benign
65847 Q9UBC5 (MYO1A) G E 662 rs33962952 Benign
65848 Q9UBC5 (MYO1A) T I 996 rs17119344 Benign
65849 Q9UBC7 (GALP) I M 72 rs3745833 Benign
65850 Q9UBC9 (SPRR3) L V 149 rs1055935 Benign
65851 Q9UBC9 (SPRR3) T M 156 rs2075740 Benign
65852 Q9UBD3 (XCL2) H D 28 rs4301615 Benign
65853 Q9UBD3 (XCL2) R K 29 rs4501820 Benign
65854 Q9UBD5 (ORC3) Q K 94 rs2307365 Benign
65855 Q9UBD5 (ORC3) Q R 126 rs2307371 Benign
65856 Q9UBD5 (ORC3) V I 217 rs2307389 Benign
65857 Q9UBD5 (ORC3) I V 247 rs2307374 Benign
65858 Q9UBD5 (ORC3) T M 287 rs2307381 Benign
65859 Q9UBD5 (ORC3) T P 389 rs2307372 Benign
65860 Q9UBD5 (ORC3) R C 588 rs2307370 Benign
65861 Q9UBD5 (ORC3) A T 626 rs28381545 Benign
65862 Q9UBD6 (RHCG) R C 202 rs17807723 Benign
65863 Q9UBD9 (CLCF1) R L 197 rs104894203 Disease: Crisponi /Cold- induced sweating syndrome 2 (CISS2) [MIM:610313]
65864 Q9UBE8 (NLK) V A 177 rs11871287 Benign
65865 Q9UBF2 (COPG2) I L 547 rs10128 Benign
65866 Q9UBF2 (COPG2) P L 626 rs17333054 Benign
65867 Q9UBF9 (MYOT) S F 39 - Disease: Spheroid body myopathy (SBM) [MIM:182920]
65868 Q9UBF9 (MYOT) Q R 50 rs34717730 Benign
65869 Q9UBF9 (MYOT) S F 55 - Disease: Myopathy, myofibrillar , 3 (MFM3) [MIM:609200]
65870 Q9UBF9 (MYOT) T I 57 rs28937597 Disease: Myopathy, myofibrillar , 3 (MFM3) [MIM:609200]
65871 Q9UBF9 (MYOT) S C 60 - Disease: Myopathy, myofibrillar , 3 (MFM3) [MIM:609200]
65872 Q9UBF9 (MYOT) S F 60 - Disease: Myopathy, myofibrillar , 3 (MFM3) [MIM:609200]
65873 Q9UBF9 (MYOT) K Q 74 rs6890689 Benign
65874 Q9UBF9 (MYOT) S I 95 - Disease: Myopathy, myofibrillar , 3 (MFM3) [MIM:609200]
65875 Q9UBG0 (MRC2) V I 43 rs2014055 Benign
65876 Q9UBG0 (MRC2) R H 1156 rs2429387 Benign
65877 Q9UBG3 (CRNN) A V 27 rs35639220 Benign
65878 Q9UBG3 (CRNN) Q H 374 rs6695830 Benign
65879 Q9UBG3 (CRNN) G S 480 rs3829868 Disease: Esophageal cancer (ESCR) [MIM:133239]
65880 Q9UBH0 (IL36RN) L P 27 rs387906914 Disease: Psoriasis 14, pustular (PSORS14) [MIM:614204]
65881 Q9UBH0 (IL36RN) N S 47 rs28938777 Benign
65882 Q9UBH0 (IL36RN) R W 48 rs151325121 Disease: Psoriasis 14, pustular (PSORS14) [MIM:614204]
65883 Q9UBH0 (IL36RN) S L 113 rs144478519 Disease: Psoriasis 14, pustular (PSORS14) [MIM:614204]
65884 Q9UBH0 (IL36RN) T R 123 rs397514629 Disease: Psoriasis 14, pustular (PSORS14) [MIM:614204]
65885 Q9UBH6 (XPR1) S N 136 rs786205902 Disease: Basal ganglia calcificatio n, idiopathic, 6 (IBGC6) [MIM:616413]
65886 Q9UBH6 (XPR1) L P 140 rs786205903 Disease: Basal ganglia calcificatio n, idiopathic, 6 (IBGC6) [MIM:616413]
65887 Q9UBH6 (XPR1) L P 145 rs786205901 Disease: Basal ganglia calcificatio n, idiopathic, 6 (IBGC6) [MIM:616413]
65888 Q9UBH6 (XPR1) L S 218 rs786205904 Disease: Basal ganglia calcificatio n, idiopathic, 6 (IBGC6) [MIM:616413]
65889 Q9UBH6 (XPR1) T A 491 rs1061012 Benign
65890 Q9UBI1 (COMMD3) R G 18 rs11552445 Benign
65891 Q9UBK2 (PPARGC1A) G S 482 rs8192678 Benign
65892 Q9UBK2 (PPARGC1A) T M 612 rs3736265 Benign
65893 Q9UBK8 (MTRR) I M 22 rs1801394 Benign
65894 Q9UBK8 (MTRR) V M 56 rs761061866 Disease: Homocystinur ia-megalobla stic anemia, cblE complementat ion type (HMAE) [MIM:236270]
65895 Q9UBK8 (MTRR) A T 129 - Disease: Homocystinur ia-megalobla stic anemia, cblE complementat ion type (HMAE) [MIM:236270]
65896 Q9UBK8 (MTRR) S L 175 rs1532268 Benign
65897 Q9UBK8 (MTRR) S T 257 rs2303080 Benign
65898 Q9UBK8 (MTRR) L V 333 rs10064631 Benign
65899 Q9UBK8 (MTRR) K R 350 rs162036 Benign
65900 Q9UBK8 (MTRR) C R 405 - Disease: Homocystinur ia-megalobla stic anemia, cblE complementat ion type (HMAE) [MIM:236270]
65901 Q9UBK8 (MTRR) R C 415 rs2287780 Benign
65902 Q9UBK8 (MTRR) P R 450 rs16879334 Benign
65903 Q9UBK8 (MTRR) G R 487 rs137853061 Disease: Homocystinur ia-megalobla stic anemia, cblE complementat ion type (HMAE) [MIM:236270]
65904 Q9UBK8 (MTRR) A V 515 rs16879355 Benign
65905 Q9UBK8 (MTRR) G R 554 - Disease: Homocystinur ia-megalobla stic anemia, cblE complementat ion type (HMAE) [MIM:236270]
65906 Q9UBK8 (MTRR) H Y 595 rs10380 Benign
65907 Q9UBL3 (ASH2L) S F 478 rs34167006 Benign
65908 Q9UBL6 (CPNE7) F L 77 rs455527 Benign
65909 Q9UBL6 (CPNE7) R Q 397 rs28568523 Benign
65910 Q9UBL6 (CPNE7) K E 507 rs35731090 Benign
65911 Q9UBL6 (CPNE7) P L 633 rs3751682 Benign
65912 Q9UBL9 (P2RX2) V L 60 rs587777692 Disease: Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224]
65913 Q9UBL9 (P2RX2) G R 353 rs202138002 Disease: Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224]
65914 Q9UBM1 (PEMT) R W 3 rs70959686 Benign
65915 Q9UBM1 (PEMT) V I 58 rs897453 Benign
65916 Q9UBM1 (PEMT) V L 58 rs897453 Benign
65917 Q9UBM1 (PEMT) V M 175 rs7946 Benign
65918 Q9UBM1 (PEMT) G R 194 rs70965427 Benign
65919 Q9UBM4 (OPTC) I T 182 rs139024490 Benign
65920 Q9UBM4 (OPTC) R C 229 rs150633473 Benign
65921 Q9UBM4 (OPTC) R W 325 rs56219555 Benign
65922 Q9UBM7 (DHCR7) S L 5 rs1127869 Benign
65923 Q9UBM7 (DHCR7) P S 51 rs104886035 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65924 Q9UBM7 (DHCR7) L P 68 rs104886038 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65925 Q9UBM7 (DHCR7) T M 93 rs80338853 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65926 Q9UBM7 (DHCR7) L P 99 rs104886041 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65927 Q9UBM7 (DHCR7) Q H 107 rs104886040 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65928 Q9UBM7 (DHCR7) L P 109 rs121912195 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65929 Q9UBM7 (DHCR7) S C 113 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65930 Q9UBM7 (DHCR7) C R 118 - Benign
65931 Q9UBM7 (DHCR7) H L 119 rs28938174 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65932 Q9UBM7 (DHCR7) G V 138 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65933 Q9UBM7 (DHCR7) I L 145 rs1555146475 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65934 Q9UBM7 (DHCR7) G D 147 rs777425801 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65935 Q9UBM7 (DHCR7) T M 154 rs143312232 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65936 Q9UBM7 (DHCR7) L P 157 rs753960624 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65937 Q9UBM7 (DHCR7) S L 169 rs80338855 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65938 Q9UBM7 (DHCR7) W C 182 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65939 Q9UBM7 (DHCR7) W L 182 rs536394774 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65940 Q9UBM7 (DHCR7) C Y 183 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65941 Q9UBM7 (DHCR7) K E 198 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65942 Q9UBM7 (DHCR7) F S 235 rs1555146061 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65943 Q9UBM7 (DHCR7) R C 242 rs80338856 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65944 Q9UBM7 (DHCR7) R H 242 rs80338857 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65945 Q9UBM7 (DHCR7) G R 244 rs121909764 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65946 Q9UBM7 (DHCR7) A V 247 rs886041354 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65947 Q9UBM7 (DHCR7) W C 248 rs104894212 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65948 Q9UBM7 (DHCR7) F L 255 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65949 Q9UBM7 (DHCR7) V M 281 rs398123607 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65950 Q9UBM7 (DHCR7) T I 289 rs121909765 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65951 Q9UBM7 (DHCR7) I T 297 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65952 Q9UBM7 (DHCR7) C G 311 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65953 Q9UBM7 (DHCR7) C Y 311 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65954 Q9UBM7 (DHCR7) Y H 324 rs1173707321 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65955 Q9UBM7 (DHCR7) V L 326 rs80338859 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65956 Q9UBM7 (DHCR7) G R 344 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65957 Q9UBM7 (DHCR7) R Q 352 rs121909768 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65958 Q9UBM7 (DHCR7) R W 352 rs80338860 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65959 Q9UBM7 (DHCR7) V A 353 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65960 Q9UBM7 (DHCR7) R C 362 rs371302153 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65961 Q9UBM7 (DHCR7) C R 380 rs373306653 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65962 Q9UBM7 (DHCR7) C S 380 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65963 Q9UBM7 (DHCR7) C Y 380 rs779709646 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65964 Q9UBM7 (DHCR7) S L 397 rs773134475 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65965 Q9UBM7 (DHCR7) R C 404 rs61757582 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65966 Q9UBM7 (DHCR7) R S 404 rs61757582 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65967 Q9UBM7 (DHCR7) H Y 405 - Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65968 Q9UBM7 (DHCR7) Y H 408 rs1046560765 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65969 Q9UBM7 (DHCR7) G R 410 rs80338862 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65970 Q9UBM7 (DHCR7) G S 410 rs80338862 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65971 Q9UBM7 (DHCR7) G S 425 rs760242 Benign
65972 Q9UBM7 (DHCR7) H P 426 rs1354718634 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65973 Q9UBM7 (DHCR7) R C 443 rs535561852 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65974 Q9UBM7 (DHCR7) R Q 446 rs751604696 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65975 Q9UBM7 (DHCR7) E K 448 rs80338864 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65976 Q9UBM7 (DHCR7) E Q 448 rs80338864 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65977 Q9UBM7 (DHCR7) R L 450 rs542266962 Disease: Smith-Lemli- Opitz syndrome (SLOS) [MIM:270400]
65978 Q9UBM8 (MGAT4C) T S 428 rs17855890 Benign
65979 Q9UBN6 (TNFRSF10D) P S 35 rs11135703 Benign
65980 Q9UBN6 (TNFRSF10D) R H 276 rs55636833 Benign
65981 Q9UBN6 (TNFRSF10D) S L 310 rs1133782 Benign
65982 Q9UBN6 (TNFRSF10D) T P 345 rs34622674 Benign
65983 Q9UBN7 (HDAC6) T I 994 rs1127346 Benign
65984 Q9UBN7 (HDAC6) N D 1200 rs151130423 Benign
65985 Q9UBP0 (SPAST) S L 44 rs121908515 Benign
65986 Q9UBP0 (SPAST) P Q 45 rs121908517 Benign
65987 Q9UBP0 (SPAST) A T 95 rs1343258361 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65988 Q9UBP0 (SPAST) L V 195 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65989 Q9UBP0 (SPAST) S G 229 rs1182763020 Benign
65990 Q9UBP0 (SPAST) P L 293 rs773193617 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65991 Q9UBP0 (SPAST) R H 309 rs202152835 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65992 Q9UBP0 (SPAST) I K 344 rs121908513 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65993 Q9UBP0 (SPAST) Q K 347 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65994 Q9UBP0 (SPAST) P L 361 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65995 Q9UBP0 (SPAST) S C 362 rs121908509 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65996 Q9UBP0 (SPAST) L P 363 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65997 Q9UBP0 (SPAST) R M 364 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65998 Q9UBP0 (SPAST) R T 364 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
65999 Q9UBP0 (SPAST) F L 368 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66000 Q9UBP0 (SPAST) G R 370 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66001 Q9UBP0 (SPAST) R G 372 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66002 Q9UBP0 (SPAST) G E 377 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66003 Q9UBP0 (SPAST) L Q 378 rs1553316816 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66004 Q9UBP0 (SPAST) L R 378 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66005 Q9UBP0 (SPAST) L H 380 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66006 Q9UBP0 (SPAST) F C 381 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66007 Q9UBP0 (SPAST) N K 386 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66008 Q9UBP0 (SPAST) N S 386 rs121908514 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66009 Q9UBP0 (SPAST) K R 388 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66010 Q9UBP0 (SPAST) M V 390 rs797044850 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66011 Q9UBP0 (SPAST) L P 391 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66012 Q9UBP0 (SPAST) S L 399 rs1553317025 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66013 Q9UBP0 (SPAST) I R 406 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66014 Q9UBP0 (SPAST) I V 406 rs587777757 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66015 Q9UBP0 (SPAST) S R 407 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66016 Q9UBP0 (SPAST) A T 409 rs1064793273 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66017 Q9UBP0 (SPAST) S R 410 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66018 Q9UBP0 (SPAST) S L 413 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66019 Q9UBP0 (SPAST) R G 424 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66020 Q9UBP0 (SPAST) L F 426 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66021 Q9UBP0 (SPAST) L V 426 rs1060502227 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66022 Q9UBP0 (SPAST) P L 435 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66023 Q9UBP0 (SPAST) S F 436 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66024 Q9UBP0 (SPAST) S P 436 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66025 Q9UBP0 (SPAST) D G 441 rs121908512 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66026 Q9UBP0 (SPAST) D N 441 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66027 Q9UBP0 (SPAST) D V 441 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66028 Q9UBP0 (SPAST) C Y 448 rs121908510 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66029 Q9UBP0 (SPAST) R S 450 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66030 Q9UBP0 (SPAST) E K 454 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66031 Q9UBP0 (SPAST) S R 458 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66032 Q9UBP0 (SPAST) R G 459 rs1553318238 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66033 Q9UBP0 (SPAST) R C 460 rs878854990 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66034 Q9UBP0 (SPAST) R L 460 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66035 Q9UBP0 (SPAST) R S 460 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66036 Q9UBP0 (SPAST) L P 461 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66037 Q9UBP0 (SPAST) T A 463 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66038 Q9UBP0 (SPAST) D V 470 rs121908516 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66039 Q9UBP0 (SPAST) A V 485 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66040 Q9UBP0 (SPAST) P L 489 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66041 Q9UBP0 (SPAST) L F 492 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66042 Q9UBP0 (SPAST) D G 493 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66043 Q9UBP0 (SPAST) R G 498 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66044 Q9UBP0 (SPAST) R C 499 rs121908511 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66045 Q9UBP0 (SPAST) R H 499 rs878854991 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66046 Q9UBP0 (SPAST) R L 503 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66047 Q9UBP0 (SPAST) R W 503 rs864622162 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66048 Q9UBP0 (SPAST) E D 512 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66049 Q9UBP0 (SPAST) R G 514 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66050 Q9UBP0 (SPAST) L P 534 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66051 Q9UBP0 (SPAST) A Y 551 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66052 Q9UBP0 (SPAST) D G 555 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66053 Q9UBP0 (SPAST) D N 555 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66054 Q9UBP0 (SPAST) A V 556 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66055 Q9UBP0 (SPAST) G D 559 rs864622179 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66056 Q9UBP0 (SPAST) G R 559 rs878854992 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66057 Q9UBP0 (SPAST) R G 562 rs121908518 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66058 Q9UBP0 (SPAST) R Q 562 rs863224923 Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66059 Q9UBP0 (SPAST) I T 580 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66060 Q9UBP0 (SPAST) D H 584 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66061 Q9UBP0 (SPAST) S R 595 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66062 Q9UBP0 (SPAST) W C 607 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66063 Q9UBP0 (SPAST) T I 614 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66064 Q9UBP0 (SPAST) T I 615 - Disease: Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
66065 Q9UBP4 (DKK3) E D 49 rs11544816 Benign
66066 Q9UBP4 (DKK3) R G 335 rs3206824 Benign
66067 Q9UBP5 (HEY2) T A 96 rs747221103 Benign
66068 Q9UBP5 (HEY2) V M 140 rs3734638 Benign
66069 Q9UBQ7 (GRHPR) R Q 170 rs12002324 Benign
66070 Q9UBR1 (UPB1) L S 13 rs200688546 Disease: Beta-ureidop ropionase deficiency (UPB1D) [MIM:613161]
66071 Q9UBR1 (UPB1) A E 85 rs34035085 Disease: Beta-ureidop ropionase deficiency (UPB1D) [MIM:613161]
66072 Q9UBR1 (UPB1) G R 235 rs766196011 Disease: Beta-ureidop ropionase deficiency (UPB1D) [MIM:613161]
66073 Q9UBR1 (UPB1) R W 236 rs144135211 Disease: Beta-ureidop ropionase deficiency (UPB1D) [MIM:613161]
66074 Q9UBR1 (UPB1) S R 264 - Disease: Beta-ureidop ropionase deficiency (UPB1D) [MIM:613161]
66075 Q9UBR1 (UPB1) E K 271 rs747454154 Disease: Beta-ureidop ropionase deficiency (UPB1D) [MIM:613161]
66076 Q9UBR1 (UPB1) R Q 326 rs118163237 Disease: Beta-ureidop ropionase deficiency (UPB1D) [MIM:613161]
66077 Q9UBR1 (UPB1) A D 340 rs34110964 Benign
66078 Q9UBR1 (UPB1) T M 359 rs369879221 Disease: Beta-ureidop ropionase deficiency (UPB1D) [MIM:613161]
66079 Q9UBR2 (CTSZ) P S 36 rs778998634 Benign
66080 Q9UBR2 (CTSZ) A T 286 rs34069356 Benign
66081 Q9UBR4 (LHX3) Y C 111 rs104894117 Disease: Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750]
66082 Q9UBR4 (LHX3) A V 210 rs137854503 Disease: Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750]
66083 Q9UBS0 (RPS6KB2) P L 267 rs55987642 Benign
66084 Q9UBS0 (RPS6KB2) V M 368 rs55642995 Benign
66085 Q9UBS0 (RPS6KB2) A V 420 rs13859 Benign
66086 Q9UBS3 (DNAJB9) R H 136 rs17155937 Benign
66087 Q9UBS4 (DNAJB11) P R 54 rs1553849919 Disease: Polycystic kidney disease 6 with or without polycystic liver disease (PKD6) [MIM:618061]
66088 Q9UBS4 (DNAJB11) L P 77 rs1553850185 Disease: Polycystic kidney disease 6 with or without polycystic liver disease (PKD6) [MIM:618061]
66089 Q9UBS4 (DNAJB11) I V 264 rs8147 Benign
66090 Q9UBS5 (GABBR1) A V 20 rs1805056 Benign
66091 Q9UBS5 (GABBR1) G S 489 rs1805057 Benign
66092 Q9UBS5 (GABBR1) F L 645 rs2076489 Benign
66093 Q9UBT2 (UBA2) L R 307 rs1043062 Benign
66094 Q9UBT6 (POLK) S R 423 rs35257416 Benign
66095 Q9UBT6 (POLK) T I 595 rs5744713 Benign
66096 Q9UBT6 (POLK) I V 612 rs3822587 Benign
66097 Q9UBT6 (POLK) S N 635 rs35501530 Benign
66098 Q9UBT6 (POLK) S N 832 rs5744716 Benign
66099 Q9UBT7 (CTNNAL1) N T 91 rs28361109 Benign
66100 Q9UBT7 (CTNNAL1) E K 203 rs28361118 Benign
66101 Q9UBT7 (CTNNAL1) T S 424 rs16913734 Benign
66102 Q9UBT7 (CTNNAL1) E Q 527 rs7021366 Benign
66103 Q9UBT7 (CTNNAL1) D E 555 rs34922868 Benign
66104 Q9UBT7 (CTNNAL1) I N 593 rs28361167 Benign
66105 Q9UBT7 (CTNNAL1) M R 716 rs28361182 Benign
66106 Q9UBU2 (DKK2) R Q 146 rs17037102 Benign
66107 Q9UBU3 (GHRL) L M 72 rs696217 Benign
66108 Q9UBU3 (GHRL) Q L 90 rs4684677 Benign
66109 Q9UBU7 (DBF4) Y N 112 rs1476703 Benign
66110 Q9UBU7 (DBF4) H R 575 rs2041049 Benign
66111 Q9UBV2 (SEL1L) D G 162 rs11499034 Benign
66112 Q9UBV2 (SEL1L) V I 714 rs1051193 Benign
66113 Q9UBV4 (WNT16) G R 82 rs2908004 Benign
66114 Q9UBV4 (WNT16) T I 263 rs2707466 Benign
66115 Q9UBV7 (B4GALT7) A D 186 rs121917817 Disease: Ehlers- Danlos syndrome, spondylodysp lastic type, 1 (EDSSPD1) [MIM:130070]
66116 Q9UBV7 (B4GALT7) L P 206 rs121917818 Disease: Ehlers- Danlos syndrome, spondylodysp lastic type, 1 (EDSSPD1) [MIM:130070]
66117 Q9UBW5 (BIN2) S N 48 rs7312857 Benign
66118 Q9UBW5 (BIN2) N D 529 rs7954976 Benign
66119 Q9UBX0 (HESX1) Q H 6 rs121909173 Disease: Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]
66120 Q9UBX0 (HESX1) I T 26 rs28936416 Disease: Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]
66121 Q9UBX0 (HESX1) N S 125 rs9878928 Benign
66122 Q9UBX0 (HESX1) E K 149 rs104893742 Disease: Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]
66123 Q9UBX0 (HESX1) R C 160 rs28936702 Disease: Septooptic dysplasia (SOD) [MIM:182230]
66124 Q9UBX0 (HESX1) S L 170 rs28936703 Disease: Septooptic dysplasia (SOD) [MIM:182230]
66125 Q9UBX0 (HESX1) T A 181 rs28936704 Disease: Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]
66126 Q9UBX1 (CTSF) Q R 153 rs11550508 Benign
66127 Q9UBX1 (CTSF) Y C 231 rs143889283 Disease: Ceroid lipofuscinos is, neuronal, 13 (CLN13) [MIM:615362]
66128 Q9UBX1 (CTSF) Q R 321 rs397514731 Disease: Ceroid lipofuscinos is, neuronal, 13 (CLN13) [MIM:615362]
66129 Q9UBX1 (CTSF) G A 458 rs397514732 Disease: Ceroid lipofuscinos is, neuronal, 13 (CLN13) [MIM:615362]
66130 Q9UBX1 (CTSF) S L 480 rs397514733 Disease: Ceroid lipofuscinos is, neuronal, 13 (CLN13) [MIM:615362]
66131 Q9UBX5 (FBLN5) T I 48 rs141200859 Disease: Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]
66132 Q9UBX5 (FBLN5) V L 60 rs121434299 Disease: Macular degeneration , age-related, 3 (ARMD3) [MIM:608895]
66133 Q9UBX5 (FBLN5) R Q 71 rs121434300 Disease: Macular degeneration , age-related, 3 (ARMD3) [MIM:608895]
66134 Q9UBX5 (FBLN5) P S 87 rs121434301 Disease: Macular degeneration , age-related, 3 (ARMD3) [MIM:608895]
66135 Q9UBX5 (FBLN5) G S 90 rs144288844 Disease: Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]
66136 Q9UBX5 (FBLN5) Q P 124 - Disease: Macular degeneration , age-related, 3 (ARMD3) [MIM:608895]
66137 Q9UBX5 (FBLN5) V M 126 rs61734479 Benign
66138 Q9UBX5 (FBLN5) I T 169 rs28939072 Disease: Macular degeneration , age-related, 3 (ARMD3) [MIM:608895]
66139 Q9UBX5 (FBLN5) G R 202 rs80338765 Benign
66140 Q9UBX5 (FBLN5) C R 217 rs80338766 Disease: Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]
66141 Q9UBX5 (FBLN5) S P 227 rs28939370 Disease: Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]
66142 Q9UBX5 (FBLN5) G S 267 rs149396611 Disease: Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]
66143 Q9UBX5 (FBLN5) R W 351 rs28939073 Disease: Macular degeneration , age-related, 3 (ARMD3) [MIM:608895]
66144 Q9UBX5 (FBLN5) A T 363 rs121434302 Disease: Macular degeneration , age-related, 3 (ARMD3) [MIM:608895]
66145 Q9UBX5 (FBLN5) D Y 364 rs1802492 Benign
66146 Q9UBX5 (FBLN5) R C 373 rs864309526 Disease: Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]
66147 Q9UBX5 (FBLN5) G E 412 rs121434303 Disease: Macular degeneration , age-related, 3 (ARMD3) [MIM:608895]
66148 Q9UBX7 (KLK11) A T 32 rs2288892 Benign
66149 Q9UBX7 (KLK11) G E 49 rs3745539 Benign
66150 Q9UBX7 (KLK11) R C 166 rs1048328 Benign
66151 Q9UBX8 (B4GALT6) I V 379 rs34683195 Benign
66152 Q9UBY5 (LPAR3) R Q 231 rs35745543 Benign
66153 Q9UBY8 (CLN8) L M 16 rs386834129 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66154 Q9UBY8 (CLN8) R G 24 rs104894064 Disease: Ceroid lipofuscinos is, neuronal, 8, Northern epilepsy variant (CLN8NE) [MIM:610003]
66155 Q9UBY8 (CLN8) A P 30 rs137852883 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66156 Q9UBY8 (CLN8) R H 70 rs386834124 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66157 Q9UBY8 (CLN8) Q R 76 rs386834125 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66158 Q9UBY8 (CLN8) H Y 92 rs34030778 Benign
66159 Q9UBY8 (CLN8) I S 107 rs386834126 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66160 Q9UBY8 (CLN8) N S 125 rs142269885 Benign
66161 Q9UBY8 (CLN8) H Y 139 rs386834127 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66162 Q9UBY8 (CLN8) A V 155 rs386834128 Benign
66163 Q9UBY8 (CLN8) Y C 158 rs386834130 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66164 Q9UBY8 (CLN8) T M 170 rs188259026 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66165 Q9UBY8 (CLN8) Q R 194 rs386834133 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66166 Q9UBY8 (CLN8) R C 204 rs104894060 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66167 Q9UBY8 (CLN8) R L 204 rs386834134 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66168 Q9UBY8 (CLN8) G S 221 rs386834136 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66169 Q9UBY8 (CLN8) P A 229 rs150047904 Benign
66170 Q9UBY8 (CLN8) G R 237 rs746645358 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66171 Q9UBY8 (CLN8) W C 263 rs28940569 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66172 Q9UBY8 (CLN8) E V 269 rs139003032 Disease: Ceroid lipofuscinos is, neuronal, 8 (CLN8) [MIM:600143]
66173 Q9UBZ4 (APEX2) R C 141 rs2301416 Benign
66174 Q9UBZ4 (APEX2) R W 141 rs2301416 Benign
66175 Q9UBZ4 (APEX2) H Y 269 rs145122391 Benign
66176 Q9UBZ4 (APEX2) N H 392 rs201964062 Benign
66177 Q9UBZ9 (REV1) V M 138 rs3087403 Benign
66178 Q9UBZ9 (REV1) F S 257 rs3087386 Benign
66179 Q9UBZ9 (REV1) N D 306 rs28382882 Benign
66180 Q9UBZ9 (REV1) N S 373 rs3087399 Benign
66181 Q9UBZ9 (REV1) M V 656 rs3087394 Benign
66182 Q9UBZ9 (REV1) L W 660 rs3087398 Benign
66183 Q9UBZ9 (REV1) D N 700 rs28382941 Benign
66184 Q9UBZ9 (REV1) R Q 704 rs28382942 Benign
66185 Q9UBZ9 (REV1) P H 902 rs28382961 Benign
66186 Q9UBZ9 (REV1) P S 902 rs28382960 Benign
66187 Q9UBZ9 (REV1) S I 921 rs3087396 Benign
66188 Q9UBZ9 (REV1) A T 1003 rs3087401 Benign
66189 Q9UBZ9 (REV1) P T 1060 rs3087388 Benign
66190 Q9UBZ9 (REV1) N K 1074 rs3087393 Benign
66191 Q9UBZ9 (REV1) N T 1091 rs3087392 Benign
66192 Q9UBZ9 (REV1) L P 1102 rs3087400 Benign
66193 Q9UDT6 (CLIP2) D E 961 rs17145468 Benign
66194 Q9UDT6 (CLIP2) R P 977 rs2522943 Benign
66195 Q9UDV6 (ZNF212) H Y 293 rs34185245 Benign
66196 Q9UDV7 (ZNF282) M V 273 rs1202418 Benign
66197 Q9UDW1 (UQCR10) I V 47 rs14115 Benign
66198 Q9UDX3 (SEC14L4) S G 3 rs9608956 Benign
66199 Q9UDX3 (SEC14L4) R G 124 rs9606739 Benign
66200 Q9UDX3 (SEC14L4) V M 200 rs17738540 Benign
66201 Q9UDX3 (SEC14L4) E K 211 rs17738527 Benign
66202 Q9UDX4 (SEC14L3) I T 103 rs4820853 Benign
66203 Q9UDX4 (SEC14L3) R H 214 rs2269961 Benign
66204 Q9UDX4 (SEC14L3) D E 335 rs2240345 Benign
66205 Q9UDX4 (SEC14L3) R C 364 rs35764129 Benign
66206 Q9UDY2 (TJP2) V A 48 rs121918299 Disease: Familial hypercholane mia (FHCA) [MIM:607748]
66207 Q9UDY2 (TJP2) D E 482 rs2309428 Benign
66208 Q9UDY2 (TJP2) M I 668 rs34774441 Benign
66209 Q9UDY2 (TJP2) S P 711 rs35797487 Benign
66210 Q9UDY2 (TJP2) K N 822 rs1049624 Benign
66211 Q9UDY2 (TJP2) N D 829 rs1049625 Benign
66212 Q9UDY6 (TRIM10) R H 65 rs12212092 Benign
66213 Q9UDY6 (TRIM10) V M 119 rs17194446 Benign
66214 Q9UDY8 (MALT1) S I 89 rs398123058 Disease: Immunodefici ency 12 (IMD12) [MIM:615468]
66215 Q9UDY8 (MALT1) I V 641 rs35533328 Benign
66216 Q9UEE5 (STK17A) E D 126 rs56286238 Benign
66217 Q9UEE5 (STK17A) M T 167 rs35940029 Benign
66218 Q9UEE5 (STK17A) E Q 286 rs3779062 Benign
66219 Q9UEE5 (STK17A) K E 362 rs1044141 Benign
66220 Q9UEE9 (CFDP1) A T 60 rs16963331 Benign
66221 Q9UEF7 (KL) P Q 15 rs1052018 Benign
66222 Q9UEF7 (KL) F V 45 rs1052019 Benign
66223 Q9UEF7 (KL) H R 193 rs121908423 Disease: Tumoral calcinosis, hyperphospha temic, familial, 3 (HFTC3) [MIM:617994]
66224 Q9UEF7 (KL) F V 352 rs9536314 Benign
66225 Q9UEF7 (KL) C S 370 rs9527025 Benign
66226 Q9UEF7 (KL) P S 514 rs3752472 Benign
66227 Q9UEG4 (ZNF629) P A 707 rs8050758 Benign
66228 Q9UEW3 (MARCO) F S 282 rs6761637 Benign
66229 Q9UEY8 (ADD3) G D 367 rs564185858 Disease: Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008]
66230 Q9UF12 (PRODH2) P R 91 rs3848666 Benign
66231 Q9UF12 (PRODH2) R Q 525 rs3761097 Benign
66232 Q9UF33 (EPHA6) F S 704 - Benign
66233 Q9UF33 (EPHA6) A V 711 rs4857276 Benign
66234 Q9UFB7 (ZBTB47) A T 385 rs9878239 Benign
66235 Q9UFD9 (RIMBP3) R C 1513 rs374395444 Benign
66236 Q9UFF9 (CNOT8) L P 32 rs1139980 Benign
66237 Q9UFH2 (DNAH17) D N 492 rs34868091 Benign
66238 Q9UFH2 (DNAH17) I V 792 rs16971526 Benign
66239 Q9UFH2 (DNAH17) I T 963 rs11651537 Benign
66240 Q9UFH2 (DNAH17) C Y 1829 - Disease: Spermatogeni c failure 39 (SPGF39) [MIM:618643]
66241 Q9UFH2 (DNAH17) M V 1972 rs1462210081 Benign
66242 Q9UFH2 (DNAH17) P L 3499 - Disease: Spermatogeni c failure 39 (SPGF39) [MIM:618643]
66243 Q9UFH2 (DNAH17) L P 3595 - Disease: Spermatogeni c failure 39 (SPGF39) [MIM:618643]
66244 Q9UFN0 (NIPSNAP3A) R Q 100 rs2274870 Benign
66245 Q9UFP1 (GASK1A) H Y 227 rs2936817 Benign
66246 Q9UFP1 (GASK1A) Q R 460 rs536119 Benign
66247 Q9UG01 (IFT172) L P 257 rs786205857 Disease: Retinitis pigmentosa 71 (RP71) [MIM:616394]
66248 Q9UG01 (IFT172) R W 296 rs145541911 Disease: Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
66249 Q9UG01 (IFT172) I N 411 rs587777085 Disease: Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
66250 Q9UG01 (IFT172) R H 953 rs704793 Benign
66251 Q9UG01 (IFT172) L P 1536 rs587777080 Disease: Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
66252 Q9UG01 (IFT172) R C 1544 rs587777079 Disease: Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
66253 Q9UG01 (IFT172) H Q 1567 rs786205855 Disease: Retinitis pigmentosa 71 (RP71) [MIM:616394]
66254 Q9UG01 (IFT172) D E 1605 rs786205856 Disease: Retinitis pigmentosa 71 (RP71) [MIM:616394]
66255 Q9UG01 (IFT172) C R 1727 rs149614625 Disease: Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
66256 Q9UG22 (GIMAP2) V F 74 rs11558054 Benign
66257 Q9UG22 (GIMAP2) N S 152 rs17173567 Benign
66258 Q9UG22 (GIMAP2) H R 161 rs2075078 Benign
66259 Q9UGC7 (MTRF1L) T A 38 rs3818125 Benign
66260 Q9UGC7 (MTRF1L) R Q 76 rs3818123 Benign
66261 Q9UGC7 (MTRF1L) L F 177 rs12660881 Benign
66262 Q9UGC7 (MTRF1L) V I 214 rs3192723 Benign
66263 Q9UGF5 (OR14J1) M T 7 rs9257694 Benign
66264 Q9UGF5 (OR14J1) V M 278 rs17404424 Benign
66265 Q9UGF6 (OR5V1) L W 23 rs6930033 Benign
66266 Q9UGF6 (OR5V1) I M 45 rs9257770 Benign
66267 Q9UGF7 (OR12D3) T I 97 rs3749971 Benign
66268 Q9UGF7 (OR12D3) Y H 277 rs9380122 Benign
66269 Q9UGI6 (KCNN3) K E 269 - Disease: Zimmermann- Laband syndrome 3 (ZLS3) [MIM:618658]
66270 Q9UGI6 (KCNN3) G D 350 - Disease: Zimmermann- Laband syndrome 3 (ZLS3) [MIM:618658]
66271 Q9UGI6 (KCNN3) S C 436 - Disease: Zimmermann- Laband syndrome 3 (ZLS3) [MIM:618658]
66272 Q9UGI8 (TES) A V 221 rs2272193 Benign
66273 Q9UGI9 (PRKAG3) P A 71 rs692243 Benign
66274 Q9UGI9 (PRKAG3) E Q 76 rs864622003 Benign
66275 Q9UGI9 (PRKAG3) D G 103 rs371222838 Benign
66276 Q9UGI9 (PRKAG3) G V 113 rs864622004 Benign
66277 Q9UGI9 (PRKAG3) L V 153 rs35050588 Benign
66278 Q9UGI9 (PRKAG3) L P 161 rs962993719 Benign
66279 Q9UGI9 (PRKAG3) G S 171 rs200004875 Benign
66280 Q9UGI9 (PRKAG3) G S 180 rs372752820 Benign
66281 Q9UGI9 (PRKAG3) M T 197 rs776255177 Benign
66282 Q9UGI9 (PRKAG3) E Q 211 rs776263291 Benign
66283 Q9UGI9 (PRKAG3) R Q 225 rs370008874 Benign
66284 Q9UGI9 (PRKAG3) R W 225 rs138130157 Benign
66285 Q9UGI9 (PRKAG3) Q R 260 rs41272689 Benign
66286 Q9UGI9 (PRKAG3) I T 269 rs367916025 Benign
66287 Q9UGI9 (PRKAG3) R C 307 rs864622005 Benign
66288 Q9UGI9 (PRKAG3) R Q 340 rs551272603 Benign
66289 Q9UGI9 (PRKAG3) R W 340 rs33985460 Benign
66290 Q9UGI9 (PRKAG3) R M 446 rs200750014 Benign
66291 Q9UGI9 (PRKAG3) A V 482 rs34720726 Benign
66292 Q9UGI9 (PRKAG3) D N 485 rs149508864 Benign
66293 Q9UGJ0 (PRKAG2) M L 6 rs3207363 Benign
66294 Q9UGJ0 (PRKAG2) R Q 302 rs121908987 Disease: Wolff- Parkinson- White syndrome (WPWS) [MIM:194200]
66295 Q9UGJ0 (PRKAG2) H R 383 rs121908988 Disease: Cardiomyopat hy, familial hypertrophic 6 (CMH6) [MIM:600858]
66296 Q9UGJ0 (PRKAG2) T N 400 rs28938173 Disease: Cardiomyopat hy, familial hypertrophic 6 (CMH6) [MIM:600858]
66297 Q9UGJ0 (PRKAG2) N I 488 rs121908989 Disease: Cardiomyopat hy, familial hypertrophic 6 (CMH6) [MIM:600858]
66298 Q9UGJ0 (PRKAG2) R G 531 rs121908990 Disease: Wolff- Parkinson- White syndrome (WPWS) [MIM:194200]
66299 Q9UGJ0 (PRKAG2) R Q 531 rs121908991 Disease: Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]
66300 Q9UGK3 (STAP2) D N 93 rs7247504 Benign
66301 Q9UGK8 (SERGEF) K E 429 rs1528 Benign
66302 Q9UGK8 (SERGEF) G E 457 rs10788 Benign
66303 Q9UGL9 (CRCT1) C Y 96 rs16834168 Benign
66304 Q9UGM1 (CHRNA9) R Q 96 rs10024518 Benign
66305 Q9UGM1 (CHRNA9) A V 315 rs55633891 Benign
66306 Q9UGM1 (CHRNA9) N S 442 rs10009228 Benign
66307 Q9UGM3 (DMBT1) P T 42 rs11523871 Benign
66308 Q9UGM3 (DMBT1) S W 52 rs75209396 Benign
66309 Q9UGM3 (DMBT1) S L 54 rs3013236 Benign
66310 Q9UGM3 (DMBT1) V A 60 - Benign
66311 Q9UGM3 (DMBT1) P L 65 rs185045706 Benign
66312 Q9UGM3 (DMBT1) N D 322 rs1969620 Benign
66313 Q9UGM3 (DMBT1) Q L 337 - Benign
66314 Q9UGM3 (DMBT1) P S 357 rs141757453 Benign
66315 Q9UGM3 (DMBT1) R G 364 - Benign
66316 Q9UGM3 (DMBT1) T M 649 rs189478437 Benign
66317 Q9UGM3 (DMBT1) R W 656 rs989419742 Benign
66318 Q9UGM3 (DMBT1) R C 670 rs2277237 Benign
66319 Q9UGM3 (DMBT1) T M 719 rs2277238 Benign
66320 Q9UGM3 (DMBT1) T M 780 rs199704744 Benign
66321 Q9UGM3 (DMBT1) P S 856 rs144450471 Benign
66322 Q9UGM3 (DMBT1) H Y 1084 rs2277244 Benign
66323 Q9UGM3 (DMBT1) S P 1095 rs200551848 Benign
66324 Q9UGM3 (DMBT1) S T 1102 rs566926424 Benign
66325 Q9UGM3 (DMBT1) M T 1169 rs149099696 Benign
66326 Q9UGM3 (DMBT1) R W 1176 rs761527369 Benign
66327 Q9UGM3 (DMBT1) R W 1434 - Benign
66328 Q9UGM3 (DMBT1) V M 1545 rs189221852 Benign
66329 Q9UGM3 (DMBT1) R L 1860 rs7099177 Benign
66330 Q9UGM3 (DMBT1) T P 1961 - Benign
66331 Q9UGM3 (DMBT1) V M 2255 rs183135544 Benign
66332 Q9UGM5 (FETUB) S P 33 rs34522046 Benign
66333 Q9UGM5 (FETUB) G S 202 rs6785067 Benign
66334 Q9UGM5 (FETUB) K R 360 rs7999 Benign
66335 Q9UGM6 (WARS2) W G 13 rs139548132 Disease: Neurodevelop mental disorder, mitochondria l, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
66336 Q9UGM6 (WARS2) G V 45 rs1553241795 Disease: Neurodevelop mental disorder, mitochondria l, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
66337 Q9UGM6 (WARS2) G S 50 rs11552864 Benign
66338 Q9UGM6 (WARS2) V L 178 - Disease: Neurodevelop mental disorder, mitochondria l, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
66339 Q9UGM6 (WARS2) A P 267 rs3790549 Benign
66340 Q9UGM6 (WARS2) K M 313 rs145867327 Disease: Neurodevelop mental disorder, mitochondria l, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
66341 Q9UGM6 (WARS2) V L 349 rs1170780314 Disease: Neurodevelop mental disorder, mitochondria l, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
66342 Q9UGM6 (WARS2) L P 360 rs17023101 Benign
66343 Q9UGN4 (CD300A) R Q 111 rs2272111 Benign
66344 Q9UGN5 (PARP2) S N 161 rs3093905 Benign
66345 Q9UGN5 (PARP2) N S 168 rs3093906 Benign
66346 Q9UGN5 (PARP2) D G 235 rs3093921 Benign
66347 Q9UGN5 (PARP2) I V 285 rs3093925 Benign
66348 Q9UGN5 (PARP2) R Q 296 rs3093926 Benign
66349 Q9UGN5 (PARP2) I T 331 rs2275010 Benign
66350 Q9UGP4 (LIMD1) G D 36 rs2578662 Benign
66351 Q9UGP4 (LIMD1) G R 415 rs3733113 Benign
66352 Q9UGP5 (POLL) T P 221 rs3730463 Benign
66353 Q9UGP5 (POLL) R W 438 rs3730477 Benign
66354 Q9UGP8 (SEC63) V I 556 rs17854547 Benign
66355 Q9UGQ2 (CACFD1) I M 58 rs3124765 Benign
66356 Q9UGQ3 (SLC2A6) T M 500 rs3094378 Benign
66357 Q9UGR2 (ZC3H7B) D N 363 rs9607793 Benign
66358 Q9UGT4 (SUSD2) R Q 59 rs56289213 Benign
66359 Q9UGT4 (SUSD2) S T 110 rs9680526 Benign
66360 Q9UGT4 (SUSD2) N S 466 rs8141797 Benign
66361 Q9UGU0 (TCF20) S T 16 - Benign
66362 Q9UGU0 (TCF20) M V 405 rs34030679 Benign
66363 Q9UGU0 (TCF20) T N 485 rs6002656 Benign
66364 Q9UGU0 (TCF20) S G 722 rs5758651 Benign
66365 Q9UGU0 (TCF20) M I 1165 rs17002890 Benign
66366 Q9UGU0 (TCF20) S N 1325 rs17002888 Benign
66367 Q9UGU0 (TCF20) H Y 1909 - Disease: Developmenta l delay with variable intellectual impairment and behavioral abnormalitie s (DDVIBA) [MIM:618430]
66368 Q9UGU0 (TCF20) Y C 1910 rs17002865 Benign
66369 Q9UGU5 (HMGXB4) G V 165 rs1053593 Benign
66370 Q9UH17 (APOBEC3B) K E 62 rs2076109 Benign
66371 Q9UH17 (APOBEC3B) P L 98 rs2076110 Benign
66372 Q9UH17 (APOBEC3B) S A 109 rs17000697 Benign
66373 Q9UH17 (APOBEC3B) T K 146 rs5995649 Benign
66374 Q9UH17 (APOBEC3B) R H 351 rs1053813 Benign
66375 Q9UH36 (SRRD) A T 99 rs4820682 Benign
66376 Q9UH65 (SWAP70) R G 230 rs397686 Benign
66377 Q9UH65 (SWAP70) Q E 505 rs415895 Benign
66378 Q9UH77 (KLHL3) A E 77 rs199469623 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66379 Q9UH77 (KLHL3) M V 78 rs199469624 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66380 Q9UH77 (KLHL3) E A 85 rs199469625 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66381 Q9UH77 (KLHL3) C F 164 rs199469626 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66382 Q9UH77 (KLHL3) R G 228 - Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66383 Q9UH77 (KLHL3) Q R 309 rs199469627 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66384 Q9UH77 (KLHL3) F C 322 rs199469639 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66385 Q9UH77 (KLHL3) R I 336 rs199469640 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66386 Q9UH77 (KLHL3) A V 340 rs199469628 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66387 Q9UH77 (KLHL3) V M 361 - Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66388 Q9UH77 (KLHL3) R W 362 rs200892557 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66389 Q9UH77 (KLHL3) R Q 384 rs199469629 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66390 Q9UH77 (KLHL3) R W 384 rs951676369 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66391 Q9UH77 (KLHL3) L P 387 rs199469630 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66392 Q9UH77 (KLHL3) A V 398 rs387907155 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66393 Q9UH77 (KLHL3) S L 410 rs199469641 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66394 Q9UH77 (KLHL3) P L 426 rs387907156 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66395 Q9UH77 (KLHL3) M T 427 rs199469642 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66396 Q9UH77 (KLHL3) R Q 431 rs199469643 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66397 Q9UH77 (KLHL3) S N 432 rs199469631 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66398 Q9UH77 (KLHL3) S G 433 - Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66399 Q9UH77 (KLHL3) S N 433 rs199469632 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66400 Q9UH77 (KLHL3) A T 494 rs199469633 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66401 Q9UH77 (KLHL3) H Y 498 - Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66402 Q9UH77 (KLHL3) G V 500 rs746774345 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66403 Q9UH77 (KLHL3) P T 501 rs199469634 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66404 Q9UH77 (KLHL3) R C 528 rs199469635 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66405 Q9UH77 (KLHL3) R H 528 rs199469636 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66406 Q9UH77 (KLHL3) N K 529 - Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66407 Q9UH77 (KLHL3) S L 553 rs1367184898 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66408 Q9UH77 (KLHL3) Y C 557 rs199469645 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66409 Q9UH77 (KLHL3) R W 575 rs199469646 Disease: Pseudohypoal dosteronism 2D (PHA2D) [MIM:614495]
66410 Q9UH90 (FBXO40) V A 87 rs4676684 Benign
66411 Q9UH92 (MLX) Q R 223 rs665268 Benign
66412 Q9UH99 (SUN2) T A 33 rs2072799 Benign
66413 Q9UH99 (SUN2) L R 89 rs35496634 Benign
66414 Q9UH99 (SUN2) R C 348 rs138708 Benign
66415 Q9UH99 (SUN2) G S 671 rs2072797 Benign
66416 Q9UHA7 (IL36A) Q R 12 rs895497 Benign
66417 Q9UHA7 (IL36A) I T 63 rs28938798 Benign
66418 Q9UHA7 (IL36A) G R 134 rs28947175 Benign
66419 Q9UHB4 (NDOR1) V I 522 rs62587579 Benign
66420 Q9UHB6 (LIMA1) L I 25 rs140372565 Benign
66421 Q9UHB7 (AFF4) T P 136 rs34527550 Benign
66422 Q9UHB7 (AFF4) T A 254 rs786205233 Disease: CHOPS syndrome (CHOPS) [MIM:616368]
66423 Q9UHB7 (AFF4) T S 254 rs786205679 Disease: CHOPS syndrome (CHOPS) [MIM:616368]
66424 Q9UHB7 (AFF4) R W 258 rs786205680 Disease: CHOPS syndrome (CHOPS) [MIM:616368]
66425 Q9UHC1 (MLH3) Q E 24 rs28937870 Disease: Hereditary non- polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
66426 Q9UHC1 (MLH3) R G 93 rs28756978 Benign
66427 Q9UHC1 (MLH3) F S 120 rs28756979 Benign
66428 Q9UHC1 (MLH3) K Q 231 rs28756981 Benign
66429 Q9UHC1 (MLH3) V I 420 rs28756982 Benign
66430 Q9UHC1 (MLH3) L V 492 rs28756983 Benign
66431 Q9UHC1 (MLH3) H R 494 rs760778201 Benign
66432 Q9UHC1 (MLH3) N S 499 rs28937871 Disease: Hereditary non- polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
66433 Q9UHC1 (MLH3) R Q 600 rs28756984 Benign
66434 Q9UHC1 (MLH3) T P 606 rs28756985 Benign
66435 Q9UHC1 (MLH3) E Q 624 rs28756986 Disease: Hereditary non- polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
66436 Q9UHC1 (MLH3) R C 647 rs28756987 Disease: Hereditary non- polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
66437 Q9UHC1 (MLH3) Y C 720 rs28756988 Benign
66438 Q9UHC1 (MLH3) V I 723 rs28756989 Benign
66439 Q9UHC1 (MLH3) V F 741 rs28756990 Benign
66440 Q9UHC1 (MLH3) R H 797 rs28756991 Benign
66441 Q9UHC1 (MLH3) S G 817 rs143278116 Disease: Hereditary non- polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
66442 Q9UHC1 (MLH3) N D 826 rs175081 Benign
66443 Q9UHC1 (MLH3) P L 844 rs175080 Benign
66444 Q9UHC1 (MLH3) S G 845 rs28756992 Benign
66445 Q9UHC1 (MLH3) T I 942 rs17102999 Benign
66446 Q9UHC1 (MLH3) S P 966 rs17782839 Benign
66447 Q9UHC1 (MLH3) G S 981 rs377337763 Disease: Hereditary non- polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
66448 Q9UHC1 (MLH3) N S 1007 rs776639203 Disease: Hereditary non- polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
66449 Q9UHC1 (MLH3) D N 1073 rs28756993 Benign
66450 Q9UHC1 (MLH3) D E 1105 rs28757008 Benign
66451 Q9UHC1 (MLH3) G D 1163 rs28757011 Benign
66452 Q9UHC1 (MLH3) G R 1319 - Benign
66453 Q9UHC1 (MLH3) A T 1394 rs138006166 Disease: Hereditary non- polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
66454 Q9UHC1 (MLH3) E K 1451 rs28939071 Disease: Hereditary non- polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
66455 Q9UHC3 (ASIC3) N S 228 rs1864545 Benign
66456 Q9UHC6 (CNTNAP2) R Q 114 rs189731792 Benign
66457 Q9UHC6 (CNTNAP2) T M 218 rs771028883 Benign
66458 Q9UHC6 (CNTNAP2) L M 226 rs372345438 Benign
66459 Q9UHC6 (CNTNAP2) R C 283 rs794727802 Benign
66460 Q9UHC6 (CNTNAP2) S N 382 rs371839994 Benign
66461 Q9UHC6 (CNTNAP2) N S 407 rs143877693 Benign
66462 Q9UHC6 (CNTNAP2) N D 418 rs772179690 Benign
66463 Q9UHC6 (CNTNAP2) E K 680 rs368905425 Benign
66464 Q9UHC6 (CNTNAP2) P Q 699 rs764412489 Benign
66465 Q9UHC6 (CNTNAP2) Y C 716 rs760930032 Benign
66466 Q9UHC6 (CNTNAP2) G S 731 rs369867547 Benign
66467 Q9UHC6 (CNTNAP2) G D 779 rs200413148 Benign
66468 Q9UHC6 (CNTNAP2) I T 869 rs121908445 Benign
66469 Q9UHC6 (CNTNAP2) R H 906 rs759801195 Benign
66470 Q9UHC6 (CNTNAP2) D N 1038 rs144003410 Benign
66471 Q9UHC6 (CNTNAP2) V A 1102 rs111599875 Benign
66472 Q9UHC6 (CNTNAP2) S G 1114 rs983036503 Benign
66473 Q9UHC6 (CNTNAP2) R H 1119 rs774709566 Benign
66474 Q9UHC6 (CNTNAP2) D H 1129 rs781236853 Benign
66475 Q9UHC6 (CNTNAP2) A T 1227 rs761684414 Benign
66476 Q9UHC6 (CNTNAP2) I T 1253 rs767821521 Benign
66477 Q9UHC6 (CNTNAP2) T I 1278 rs760047247 Benign
66478 Q9UHC7 (MKRN1) V L 243 rs2272095 Benign
66479 Q9UHC7 (MKRN1) V A 439 rs1062786 Benign
66480 Q9UHC9 (NPC1L1) V L 55 rs119457968 Benign
66481 Q9UHC9 (NPC1L1) M I 510 rs1468384 Benign
66482 Q9UHC9 (NPC1L1) I N 1233 rs52815063 Benign
66483 Q9UHC9 (NPC1L1) E K 1308 rs217435 Benign
66484 Q9UHD0 (IL19) F S 175 rs2243191 Benign
66485 Q9UHD1 (CHORDC1) A D 329 rs1045861 Benign
66486 Q9UHD2 (TBK1) R H 47 - Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66487 Q9UHD2 (TBK1) D A 50 rs1010930015 Disease: Encephalopat hy, acute, infection- induced, herpes- specific, 8 (IIAE8) [MIM:617900]
66488 Q9UHD2 (TBK1) Y C 105 rs1366668789 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66489 Q9UHD2 (TBK1) S F 151 rs55824172 Benign
66490 Q9UHD2 (TBK1) G A 159 rs1555202947 Disease: Encephalopat hy, acute, infection- induced, herpes- specific, 8 (IIAE8) [MIM:617900]
66491 Q9UHD2 (TBK1) R Q 271 rs56196591 Benign
66492 Q9UHD2 (TBK1) K E 291 rs34774243 Benign
66493 Q9UHD2 (TBK1) I T 305 rs770942184 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66494 Q9UHD2 (TBK1) R Q 308 - Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66495 Q9UHD2 (TBK1) R Q 357 rs758357594 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66496 Q9UHD2 (TBK1) N D 388 rs17857028 Benign
66497 Q9UHD2 (TBK1) K E 401 rs756751089 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66498 Q9UHD2 (TBK1) V A 464 rs35635889 Benign
66499 Q9UHD2 (TBK1) M R 559 - Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66500 Q9UHD2 (TBK1) K Q 570 rs17853341 Benign
66501 Q9UHD2 (TBK1) A V 571 rs765035140 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66502 Q9UHD2 (TBK1) M V 598 rs899858451 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66503 Q9UHD2 (TBK1) E K 696 rs748112833 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
66504 Q9UHD8 (SEPTIN9) R C 76 rs202079794 Benign
66505 Q9UHD8 (SEPTIN9) R W 106 rs80338761 Disease: Hereditary neuralgic amyotrophy (HNA) [MIM:162100]
66506 Q9UHD8 (SEPTIN9) S F 111 rs80338762 Disease: Hereditary neuralgic amyotrophy (HNA) [MIM:162100]
66507 Q9UHD8 (SEPTIN9) P L 145 rs34587622 Benign
66508 Q9UHD8 (SEPTIN9) M V 576 rs2627223 Benign
66509 Q9UHD9 (UBQLN2) L H 235 rs17002693 Benign
66510 Q9UHD9 (UBQLN2) A V 282 rs1001930696 Disease: -
66511 Q9UHD9 (UBQLN2) A T 283 rs749463696 Disease: Amyotrophic lateral sclerosis 15, with or without frontotempor al dementia (ALS15) [MIM:300857]
66512 Q9UHD9 (UBQLN2) Q R 425 rs1243726473 Disease: Amyotrophic lateral sclerosis 15, with or without frontotempor al dementia (ALS15) [MIM:300857]
66513 Q9UHD9 (UBQLN2) T I 487 - Disease: Amyotrophic lateral sclerosis 15, with or without frontotempor al dementia (ALS15) [MIM:300857]
66514 Q9UHD9 (UBQLN2) P H 497 rs387906709 Disease: Amyotrophic lateral sclerosis 15, with or without frontotempor al dementia (ALS15) [MIM:300857]
66515 Q9UHD9 (UBQLN2) P S 497 rs387906710 Disease: Amyotrophic lateral sclerosis 15, with or without frontotempor al dementia (ALS15) [MIM:300857]
66516 Q9UHD9 (UBQLN2) P T 506 rs387906711 Disease: Amyotrophic lateral sclerosis 15, with or without frontotempor al dementia (ALS15) [MIM:300857]
66517 Q9UHD9 (UBQLN2) P S 509 rs387906712 Disease: Amyotrophic lateral sclerosis 15, with or without frontotempor al dementia (ALS15) [MIM:300857]
66518 Q9UHD9 (UBQLN2) P S 525 rs369947678 Disease: Amyotrophic lateral sclerosis 15, with or without frontotempor al dementia (ALS15) [MIM:300857]
66519 Q9UHE5 (NAT8) E K 104 rs13424561 Benign
66520 Q9UHE5 (NAT8) F S 143 rs13538 Benign
66521 Q9UHE8 (STEAP1) H Q 47 rs4015375 Benign
66522 Q9UHE8 (STEAP1) F L 169 rs2888782 Benign
66523 Q9UHF0 (TAC3) R S 80 rs727505372 Disease: Hypogonadotr opic hypogonadism 10 with or without anosmia (HH10) [MIM:614839]
66524 Q9UHF0 (TAC3) M T 90 rs121918123 Disease: Hypogonadotr opic hypogonadism 10 with or without anosmia (HH10) [MIM:614839]
66525 Q9UHF1 (EGFL7) G R 114 rs61736886 Benign
66526 Q9UHF1 (EGFL7) V I 153 rs2297538 Benign
66527 Q9UHF1 (EGFL7) P S 183 rs35863900 Benign
66528 Q9UHF1 (EGFL7) A G 186 rs34142075 Benign
66529 Q9UHF4 (IL20RA) V I 259 rs1555498 Benign
66530 Q9UHF4 (IL20RA) L F 382 rs1342642 Benign
66531 Q9UHF7 (TRPS1) S L 654 rs7002384 Benign
66532 Q9UHF7 (TRPS1) V D 894 - Disease: Tricho- rhino- phalangeal syndrome 3 (TRPS3) [MIM:190351]
66533 Q9UHF7 (TRPS1) T P 901 rs121908433 Disease: Tricho- rhino- phalangeal syndrome 3 (TRPS3) [MIM:190351]
66534 Q9UHF7 (TRPS1) R P 908 - Disease: Tricho- rhino- phalangeal syndrome 3 (TRPS3) [MIM:190351]
66535 Q9UHF7 (TRPS1) R Q 908 rs121908435 Disease: Tricho- rhino- phalangeal syndrome 3 (TRPS3) [MIM:190351]
66536 Q9UHF7 (TRPS1) A T 919 rs1057518972 Disease: Tricho- rhino- phalangeal syndrome 3 (TRPS3) [MIM:190351]
66537 Q9UHF7 (TRPS1) R C 952 rs28939069 Disease: Tricho- rhino- phalangeal syndrome 1 (TRPS1) [MIM:190350]
66538 Q9UHF7 (TRPS1) R H 952 rs28939070 Disease: Tricho- rhino- phalangeal syndrome 1 (TRPS1) [MIM:190350]
66539 Q9UHG0 (DCDC2) K N 17 rs1042640142 Disease: Sclerosing cholangitis, neonatal (NSC) [MIM:617394]
66540 Q9UHG0 (DCDC2) P A 152 rs33914824 Benign
66541 Q9UHG0 (DCDC2) S G 221 rs2274305 Benign
66542 Q9UHG0 (DCDC2) Q P 424 rs794729665 Disease: Deafness, autosomal recessive, 66 (DFNB66) [MIM:610212]
66543 Q9UHG0 (DCDC2) K N 456 rs9460973 Benign
66544 Q9UHG2 (PCSK1N) A T 31 rs11538176 Benign
66545 Q9UHG3 (PCYOX1) S F 149 rs2706762 Benign
66546 Q9UHG3 (PCYOX1) T S 414 rs17005441 Benign
66547 Q9UHG3 (PCYOX1) S G 465 rs34041544 Benign
66548 Q9UHI6 (DDX20) I T 636 rs197412 Benign
66549 Q9UHI6 (DDX20) R S 693 rs197414 Benign
66550 Q9UHI6 (DDX20) I T 762 rs85276 Benign
66551 Q9UHI7 (SLC23A1) I V 218 rs34521685 Benign
66552 Q9UHI7 (SLC23A1) M V 258 rs35817838 Benign
66553 Q9UHI7 (SLC23A1) V M 264 rs33972313 Benign
66554 Q9UHI7 (SLC23A1) S A 421 rs6596474 Benign
66555 Q9UHI8 (ADAMTS1) A P 227 rs428785 Benign
66556 Q9UHJ6 (SHPK) E K 215 rs150857 Benign
66557 Q9UHJ6 (SHPK) D E 421 rs224496 Benign
66558 Q9UHJ6 (SHPK) L M 434 rs36125540 Benign
66559 Q9UHJ9 (PGAP2) R W 16 rs773359554 Disease: Hyperphospha tasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
66560 Q9UHJ9 (PGAP2) Y C 99 rs879255232 Disease: Hyperphospha tasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
66561 Q9UHJ9 (PGAP2) L S 127 rs879255233 Disease: Hyperphospha tasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
66562 Q9UHJ9 (PGAP2) T I 160 rs780188037 Disease: Hyperphospha tasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
66563 Q9UHJ9 (PGAP2) R P 177 rs774843232 Disease: Hyperphospha tasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
66564 Q9UHK0 (NUFIP1) S R 36 rs1140993 Benign
66565 Q9UHK6 (AMACR) V M 9 rs3195676 Benign
66566 Q9UHK6 (AMACR) S P 52 rs121917814 Disease: Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]
66567 Q9UHK6 (AMACR) L P 107 rs121917816 Disease: Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]
66568 Q9UHK6 (AMACR) R Q 118 rs16892150 Benign
66569 Q9UHK6 (AMACR) G D 175 rs10941112 Benign
66570 Q9UHK6 (AMACR) L S 201 rs2287939 Benign
66571 Q9UHK6 (AMACR) P S 238 rs9282594 Benign
66572 Q9UHK6 (AMACR) Q H 239 rs34677 Benign
66573 Q9UHK6 (AMACR) M I 261 rs9282593 Benign
66574 Q9UHK6 (AMACR) M T 261 rs3195678 Benign
66575 Q9UHK6 (AMACR) E K 277 rs2278008 Benign
66576 Q9UHL4 (DPP7) A G 89 rs10747049 Benign
66577 Q9UHL9 (GTF2IRD1) M V 652 rs2301895 Benign
66578 Q9UHM6 (OPN4) P L 10 rs2675703 Benign
66579 Q9UHM6 (OPN4) T I 394 rs1079610 Benign
66580 Q9UHM6 (OPN4) G D 444 rs12262894 Benign
66581 Q9UHN1 (POLG2) A T 169 rs1427463 Benign
66582 Q9UHN1 (POLG2) R W 182 rs886037843 Disease: Mitochondria l DNA depletion syndrome 16, hepatic type (MTDPS16) [MIM:618528]
66583 Q9UHN1 (POLG2) G A 416 rs17850455 Benign
66584 Q9UHN1 (POLG2) G E 451 rs104894632 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131]
66585 Q9UHN6 (CEMIP2) R K 245 rs25688 Benign
66586 Q9UHN6 (CEMIP2) R H 291 rs25689 Benign
66587 Q9UHN6 (CEMIP2) R L 291 rs25689 Benign
66588 Q9UHN6 (CEMIP2) R P 291 rs25689 Benign
66589 Q9UHN6 (CEMIP2) D E 423 rs25695 Benign
66590 Q9UHN6 (CEMIP2) P S 765 rs25692 Benign
66591 Q9UHN6 (CEMIP2) I V 1010 rs17057133 Benign
66592 Q9UHN6 (CEMIP2) S N 1254 rs2297089 Benign
66593 Q9UHN6 (CEMIP2) G D 1280 rs17475375 Benign
66594 Q9UHP6 (RSPH14) T M 42 rs35211242 Benign
66595 Q9UHP7 (CLEC2D) N K 19 rs16914640 Benign
66596 Q9UHP7 (CLEC2D) L V 23 rs3764022 Benign
66597 Q9UHQ9 (CYB5R1) N S 44 rs2232842 Benign
66598 Q9UHR4 (BAIAP2L1) S T 460 rs2269966 Benign
66599 Q9UHR6 (ZNHIT2) E K 155 rs11556920 Benign
66600 Q9UHR6 (ZNHIT2) A V 176 rs35983251 Benign
66601 Q9UHV2 (SERTAD1) T A 31 rs268687 Benign
66602 Q9UHV7 (MED13) T I 326 - Disease: Intellectual developmenta l disorder 61 (MRD61) [MIM:618009]
66603 Q9UHV7 (MED13) P Q 327 - Disease: Intellectual developmenta l disorder 61 (MRD61) [MIM:618009]
66604 Q9UHV7 (MED13) P S 327 - Disease: Intellectual developmenta l disorder 61 (MRD61) [MIM:618009]
66605 Q9UHV7 (MED13) A P 1370 rs34805963 Benign
66606 Q9UHV7 (MED13) A P 1385 rs35996128 Benign
66607 Q9UHW5 (GPN3) A V 52 rs17856906 Benign
66608 Q9UHW5 (GPN3) V A 244 rs17850320 Benign
66609 Q9UHW9 (SLC12A6) F S 415 rs2705339 Benign
66610 Q9UHX1 (PUF60) H Y 169 rs398123001 Disease: Verheij syndrome (VRJS) [MIM:615583]
66611 Q9UHX3 (ADGRE2) A V 314 rs35612307 Benign
66612 Q9UHX3 (ADGRE2) C Y 492 rs199718602 Disease: Vibratory urticaria (VBU) [MIM:125630]
66613 Q9UHX3 (ADGRE2) T I 605 rs4410209 Benign
66614 Q9UHX3 (ADGRE2) L F 614 rs2524383 Benign
66615 Q9UHX3 (ADGRE2) S F 665 rs3752187 Benign
66616 Q9UHX3 (ADGRE2) E D 720 rs57865820 Benign
66617 Q9UHY1 (NRBP1) V I 365 rs56004639 Benign
66618 Q9UHY1 (NRBP1) H R 460 rs34260196 Benign
66619 Q9UHY8 (FEZ2) P L 50 rs1544655 Benign
66620 Q9UHY8 (FEZ2) R C 329 rs848642 Benign
66621 Q9UI09 (NDUFA12) T A 104 rs17850017 Benign
66622 Q9UI10 (EIF2B4) A V 93 rs34155621 Benign
66623 Q9UI10 (EIF2B4) R Q 209 rs113994028 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
66624 Q9UI10 (EIF2B4) A V 228 rs113994027 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
66625 Q9UI10 (EIF2B4) L R 269 rs113994031 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
66626 Q9UI10 (EIF2B4) R G 306 rs78599355 Benign
66627 Q9UI10 (EIF2B4) R Q 357 rs113994033 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
66628 Q9UI10 (EIF2B4) R C 374 rs113994035 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
66629 Q9UI10 (EIF2B4) C R 465 rs113994038 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
66630 Q9UI10 (EIF2B4) Y H 489 rs113994040 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
66631 Q9UI17 (DMGDH) H R 109 rs121908331 Disease: DMGDH deficiency (DMGDHD) [MIM:605850]
66632 Q9UI17 (DMGDH) S P 279 rs532964 Benign
66633 Q9UI17 (DMGDH) A G 530 rs1805073 Benign
66634 Q9UI17 (DMGDH) S P 646 rs1805074 Benign
66635 Q9UI26 (IPO11) N D 260 rs35107530 Benign
66636 Q9UI26 (IPO11) I V 937 rs11544795 Benign
66637 Q9UI32 (GLS2) L P 581 rs2657879 Benign
66638 Q9UI33 (SCN11A) R H 222 rs1230622899 Disease: Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
66639 Q9UI33 (SCN11A) R S 222 - Disease: Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
66640 Q9UI33 (SCN11A) R C 225 rs138607170 Disease: Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
66641 Q9UI33 (SCN11A) P L 308 rs751477540 Benign
66642 Q9UI33 (SCN11A) I T 381 rs606231280 Disease: Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
66643 Q9UI33 (SCN11A) K N 419 rs150269814 Benign
66644 Q9UI33 (SCN11A) G E 481 rs13059805 Benign
66645 Q9UI33 (SCN11A) A T 582 rs141228634 Benign
66646 Q9UI33 (SCN11A) A D 681 - Benign
66647 Q9UI33 (SCN11A) G R 699 rs145734191 Disease: Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
66648 Q9UI33 (SCN11A) M R 777 rs4302324 Benign
66649 Q9UI33 (SCN11A) A G 808 rs483352921 Disease: Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
66650 Q9UI33 (SCN11A) L P 811 rs483352920 Disease: Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548]
66651 Q9UI33 (SCN11A) A P 842 rs1373209779 Benign
66652 Q9UI33 (SCN11A) V I 909 rs33985936 Benign
66653 Q9UI33 (SCN11A) L P 1158 rs141686175 Disease: Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
66654 Q9UI33 (SCN11A) V A 1184 - Disease: Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548]
66655 Q9UI33 (SCN11A) Y H 1198 rs12638601 Benign
66656 Q9UI33 (SCN11A) T I 1609 rs72869687 Benign
66657 Q9UI33 (SCN11A) F L 1689 rs201107889 Benign
66658 Q9UI38 (PRSS50) Q P 75 rs34788938 Benign
66659 Q9UI38 (PRSS50) V I 98 rs35866901 Benign
66660 Q9UI42 (CPA4) L F 27 rs34587586 Benign
66661 Q9UI42 (CPA4) P T 157 rs3735051 Benign
66662 Q9UI42 (CPA4) R L 183 rs3735053 Benign
66663 Q9UI42 (CPA4) G C 303 rs2171492 Benign
66664 Q9UI43 (MRM2) G R 189 - Disease: Mitochondria l DNA depletion syndrome 17 (MTDPS17) [MIM:618567]
66665 Q9UI46 (DNAI1) A S 8 rs11547035 Benign
66666 Q9UI46 (DNAI1) A V 60 rs16931549 Benign
66667 Q9UI46 (DNAI1) Q H 326 rs16931555 Benign
66668 Q9UI46 (DNAI1) V I 335 rs11793196 Benign
66669 Q9UI46 (DNAI1) V G 487 rs11999454 Benign
66670 Q9UI46 (DNAI1) G S 515 rs79833450 Disease: Kartagener syndrome (KTGS) [MIM:244400]
66671 Q9UI47 (CTNNA3) V D 94 rs587777134 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 13 (ARVD13) [MIM:615616]
66672 Q9UI47 (CTNNA3) R C 535 rs41274090 Benign
66673 Q9UI47 (CTNNA3) S N 596 rs4548513 Benign
66674 Q9UI95 (MAD2L2) V E 85 rs1057517674 Disease: Fanconi anemia, complementat ion group V (FANCV) [MIM:617243]
66675 Q9UIA0 (CYTH4) M V 74 rs16998061 Benign
66676 Q9UIA9 (XPO7) E D 398 rs17856894 Benign
66677 Q9UIA9 (XPO7) C Y 835 rs17856895 Benign
66678 Q9UID3 (VPS51) R C 490 - Disease: Pontocerebel lar hypoplasia 13 (PCH13) [MIM:618606]
66679 Q9UIE0 (ZNF230) S C 310 rs1060877 Benign
66680 Q9UIE0 (ZNF230) F Y 434 rs6413542 Benign
66681 Q9UIE0 (ZNF230) D E 441 rs12753 Benign
66682 Q9UIF3 (TEKT2) R C 46 rs12043423 Benign
66683 Q9UIF3 (TEKT2) I T 114 rs419653 Benign
66684 Q9UIF7 (MUTYH) V M 22 rs3219484 Benign
66685 Q9UIF7 (MUTYH) G D 25 rs75321043 Benign
66686 Q9UIF7 (MUTYH) V E 72 - Benign
66687 Q9UIF7 (MUTYH) D G 121 - Benign
66688 Q9UIF7 (MUTYH) Y H 125 - Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66689 Q9UIF7 (MUTYH) W R 128 rs730881832 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66690 Q9UIF7 (MUTYH) P L 154 rs777184451 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66691 Q9UIF7 (MUTYH) Y C 176 rs34612342 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66692 Q9UIF7 (MUTYH) Y S 177 - Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66693 Q9UIF7 (MUTYH) R C 179 rs747993448 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66694 Q9UIF7 (MUTYH) R H 179 rs143353451 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66695 Q9UIF7 (MUTYH) R Q 182 rs533899702 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66696 Q9UIF7 (MUTYH) R W 182 rs750592289 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66697 Q9UIF7 (MUTYH) G E 186 rs754155145 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66698 Q9UIF7 (MUTYH) G E 213 rs768553551 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66699 Q9UIF7 (MUTYH) A V 224 rs11545695 Benign
66700 Q9UIF7 (MUTYH) V M 231 rs200165598 Disease: -
66701 Q9UIF7 (MUTYH) N S 235 rs1057517765 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66702 Q9UIF7 (MUTYH) R C 242 rs200495564 Disease: -
66703 Q9UIF7 (MUTYH) R H 242 rs140342925 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66704 Q9UIF7 (MUTYH) V F 243 rs587780749 Benign
66705 Q9UIF7 (MUTYH) R G 244 rs587782885 Benign
66706 Q9UIF7 (MUTYH) R W 271 rs769237459 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66707 Q9UIF7 (MUTYH) M V 280 rs876659676 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66708 Q9UIF7 (MUTYH) P L 292 rs374950566 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66709 Q9UIF7 (MUTYH) S N 319 rs587781810 Benign
66710 Q9UIF7 (MUTYH) Q H 335 rs3219489 Benign
66711 Q9UIF7 (MUTYH) A V 370 rs35352891 Benign
66712 Q9UIF7 (MUTYH) P T 377 - Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66713 Q9UIF7 (MUTYH) L P 385 rs1060501335 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66714 Q9UIF7 (MUTYH) G D 393 rs36053993 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66715 Q9UIF7 (MUTYH) P L 402 rs529008617 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66716 Q9UIF7 (MUTYH) P S 402 rs121908382 Disease: Gastric cancer (GASC) [MIM:613659]
66717 Q9UIF7 (MUTYH) R Q 434 rs587782120 Benign
66718 Q9UIF7 (MUTYH) A D 470 rs200844166 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66719 Q9UIF7 (MUTYH) A T 486 rs587782263 Disease: Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
66720 Q9UIF7 (MUTYH) G E 500 rs3219494 Benign
66721 Q9UIF7 (MUTYH) S F 512 rs140118273 Benign
66722 Q9UIF7 (MUTYH) P L 513 rs587778542 Benign
66723 Q9UIF7 (MUTYH) R H 520 rs374655042 Benign
66724 Q9UIF7 (MUTYH) L M 526 rs3219496 Benign
66725 Q9UIF7 (MUTYH) R Q 531 rs3219497 Benign
66726 Q9UIF7 (MUTYH) T A 536 rs151196169 Benign
66727 Q9UIF8 (BAZ2B) M T 71 rs10202670 Benign
66728 Q9UIF8 (BAZ2B) L S 422 rs3213790 Benign
66729 Q9UIF8 (BAZ2B) P L 530 rs3732287 Benign
66730 Q9UIF8 (BAZ2B) G V 702 rs2302924 Benign
66731 Q9UIF8 (BAZ2B) S N 2024 rs415793 Benign
66732 Q9UIF9 (BAZ2A) V E 498 rs2230579 Benign
66733 Q9UIG4 (PSORS1C2) G D 25 rs2233950 Benign
66734 Q9UIG4 (PSORS1C2) L P 83 rs2233952 Benign
66735 Q9UIG4 (PSORS1C2) P L 84 - Benign
66736 Q9UIG5 (PSORS1C1) P T 24 rs1265097 Benign
66737 Q9UIG5 (PSORS1C1) E K 34 rs1265096 Benign
66738 Q9UIG5 (PSORS1C1) E Q 34 - Benign
66739 Q9UIG5 (PSORS1C1) R H 37 rs9263726 Benign
66740 Q9UIG5 (PSORS1C1) P S 43 rs9501057 Benign
66741 Q9UIG5 (PSORS1C1) S C 66 rs2233943 Benign
66742 Q9UIG5 (PSORS1C1) P L 133 rs1063646 Benign
66743 Q9UIG8 (SLCO3A1) E D 294 rs1517618 Benign
66744 Q9UII4 (HERC5) A T 301 rs17014143 Benign
66745 Q9UII6 (DUSP13) R Q 62 rs16932004 Benign
66746 Q9UII6 (DUSP13) C Y 156 rs3088142 Benign
66747 Q9UII6 (DUSP13) R G 190 rs16931996 Benign
66748 Q9UIK4 (DAPK2) R W 60 rs56047843 Benign
66749 Q9UIK4 (DAPK2) R W 271 rs34270163 Benign
66750 Q9UIL4 (KIF25) K M 28 rs4708626 Benign
66751 Q9UIL4 (KIF25) A T 41 rs34049091 Benign
66752 Q9UIL4 (KIF25) T P 229 rs12197062 Benign
66753 Q9UIL4 (KIF25) A T 255 rs2073634 Benign
66754 Q9UIM3 (FKBPL) A T 90 rs28732176 Benign
66755 Q9UIQ6 (LNPEP) S P 86 rs3797799 Benign
66756 Q9UIQ6 (LNPEP) N I 594 rs12520455 Benign
66757 Q9UIQ6 (LNPEP) A T 763 rs2303138 Benign
66758 Q9UIQ6 (LNPEP) S T 913 rs17087233 Benign
66759 Q9UIQ6 (LNPEP) I V 963 rs11746232 Benign
66760 Q9UIR0 (BTNL2) W R 94 rs28362682 Benign
66761 Q9UIR0 (BTNL2) R Q 181 rs28362681 Benign
66762 Q9UIR0 (BTNL2) V M 188 rs9461742 Benign
66763 Q9UIR0 (BTNL2) K E 196 rs2076523 Benign
66764 Q9UIR0 (BTNL2) A V 202 rs28362680 Benign
66765 Q9UIR0 (BTNL2) D V 283 rs34423804 Benign
66766 Q9UIR0 (BTNL2) S L 334 rs28362679 Benign
66767 Q9UIR0 (BTNL2) A T 352 rs35037492 Benign
66768 Q9UIR0 (BTNL2) S G 360 rs2076530 Benign
66769 Q9UIR0 (BTNL2) P L 379 rs28362678 Benign
66770 Q9UIR0 (BTNL2) M I 380 rs28362677 Benign
66771 Q9UIR0 (BTNL2) P Q 393 rs41521946 Benign
66772 Q9UIS9 (MBD1) P A 401 rs125555 Benign
66773 Q9UIU6 (SIX4) H P 605 rs3742636 Benign
66774 Q9UIV8 (SERPINB13) G S 293 rs1020694 Benign
66775 Q9UIW0 (VAX2) R G 24 rs2234496 Benign
66776 Q9UIW0 (VAX2) P R 254 rs2234500 Benign
66777 Q9UIX4 (KCNG1) I M 304 rs17791052 Benign
66778 Q9UJ04 (TSPYL4) R L 30 rs2232470 Benign
66779 Q9UJ70 (NAGK) W R 38 rs17856147 Benign
66780 Q9UJ70 (NAGK) A V 60 rs17849984 Benign
66781 Q9UJ71 (CD207) A V 55 rs10489990 Benign
66782 Q9UJ71 (CD207) Q E 136 rs17718987 Benign
66783 Q9UJ71 (CD207) P S 213 rs17006436 Benign
66784 Q9UJ71 (CD207) W R 264 rs200837270 Disease: Birbeck granule deficiency (BIRGD) [MIM:613393]
66785 Q9UJ71 (CD207) V A 278 rs741326 Benign
66786 Q9UJ71 (CD207) N D 288 rs13383830 Benign
66787 Q9UJ71 (CD207) A P 300 rs2080391 Benign
66788 Q9UJ72 (ANXA10) M L 71 rs6836994 Benign
66789 Q9UJ78 (ZMYM5) I V 125 rs9579718 Benign
66790 Q9UJ78 (ZMYM5) C F 137 rs9579717 Benign
66791 Q9UJ78 (ZMYM5) T A 231 rs41292167 Benign
66792 Q9UJ90 (KCNE5) P S 33 rs17003955 Benign
66793 Q9UJ90 (KCNE5) E Q 114 rs41312935 Benign
66794 Q9UJA3 (MCM8) Q K 63 rs236110 Benign
66795 Q9UJA3 (MCM8) K N 101 rs6117014 Benign
66796 Q9UJA3 (MCM8) P R 149 rs606231343 Disease: Premature ovarian failure 10 (POF10) [MIM:612885]
66797 Q9UJA3 (MCM8) N S 183 rs16991591 Benign
66798 Q9UJA3 (MCM8) E K 341 rs16991615 Benign
66799 Q9UJA3 (MCM8) S N 365 rs28403619 Benign
66800 Q9UJA3 (MCM8) N S 785 rs16991638 Benign
66801 Q9UJA5 (TRMT6) E K 293 rs6139876 Benign
66802 Q9UJA5 (TRMT6) E G 299 rs451571 Benign
66803 Q9UJA5 (TRMT6) P L 333 rs35203742 Benign
66804 Q9UJA9 (ENPP5) L I 6 rs3806995 Benign
66805 Q9UJA9 (ENPP5) R P 39 rs34109856 Benign
66806 Q9UJA9 (ENPP5) I V 69 rs34432940 Benign
66807 Q9UJA9 (ENPP5) I V 171 rs6926570 Benign
66808 Q9UJA9 (ENPP5) Y C 283 rs16874326 Benign
66809 Q9UJC3 (HOOK1) G S 689 rs1008809819 Benign
66810 Q9UJJ7 (RPUSD1) E Q 124 rs2272898 Benign
66811 Q9UJJ7 (RPUSD1) L P 247 rs3751672 Benign
66812 Q9UJJ9 (GNPTG) G S 106 rs137852885 Disease: Mucolipidosi s type III complementat ion group C (MLIIIC) [MIM:252605]
66813 Q9UJJ9 (GNPTG) G S 126 rs775359476 Disease: Mucolipidosi s type III complementat ion group C (MLIIIC) [MIM:252605]
66814 Q9UJJ9 (GNPTG) C Y 142 - Disease: Mucolipidosi s type III complementat ion group C (MLIIIC) [MIM:252605]
66815 Q9UJJ9 (GNPTG) T M 286 rs193302860 Benign
66816 Q9UJL9 (ZFP69B) C Y 115 rs2272994 Benign
66817 Q9UJL9 (ZFP69B) G R 359 rs12407929 Benign
66818 Q9UJM3 (ERRFI1) D N 109 rs34781518 Benign
66819 Q9UJM3 (ERRFI1) I L 158 rs34974993 Benign
66820 Q9UJN7 (ZNF391) K R 51 rs10807020 Benign
66821 Q9UJN7 (ZNF391) G C 59 rs10807021 Benign
66822 Q9UJQ1 (LAMP5) D G 12 rs2232259 Benign
66823 Q9UJQ1 (LAMP5) I V 81 rs2232263 Benign
66824 Q9UJQ1 (LAMP5) Q E 103 rs2232264 Benign
66825 Q9UJQ1 (LAMP5) S G 158 rs2232266 Benign
66826 Q9UJQ4 (SALL4) L R 507 rs6126344 Benign
66827 Q9UJQ4 (SALL4) I L 798 rs6091375 Benign
66828 Q9UJQ4 (SALL4) H R 888 rs74315429 Disease: Duane-radial ray syndrome (DRRS) [MIM:607323]
66829 Q9UJQ7 (SCP2D1) P S 99 rs1053839 Benign
66830 Q9UJS0 (SLC25A13) E K 141 rs1131697 Benign
66831 Q9UJS0 (SLC25A13) L I 232 rs10255762 Benign
66832 Q9UJS0 (SLC25A13) E K 601 rs80338727 Disease: Cholestasis, neonatal intrahepatic , caused by citrin deficiency (NICCD) [MIM:605814]
66833 Q9UJT1 (TUBD1) M T 76 rs1292053 Benign
66834 Q9UJT2 (TSKS) E K 167 rs34701020 Benign
66835 Q9UJT2 (TSKS) D G 382 rs2304202 Benign
66836 Q9UJU3 (ZNF112) P S 54 rs11673395 Benign
66837 Q9UJU3 (ZNF112) F L 159 rs4280359 Benign
66838 Q9UJU3 (ZNF112) G E 163 rs16978965 Benign
66839 Q9UJU3 (ZNF112) T K 287 rs10419604 Benign
66840 Q9UJU3 (ZNF112) E Q 446 rs2722723 Benign
66841 Q9UJU3 (ZNF112) Y H 485 rs2722722 Benign
66842 Q9UJU3 (ZNF112) E A 780 rs2609881 Benign
66843 Q9UJV3 (MID2) N S 343 rs551253128 Benign
66844 Q9UJV3 (MID2) R Q 347 rs587777605 Disease: Mental retardation, X-linked 101 (MRX101) [MIM:300928]
66845 Q9UJV3 (MID2) A D 378 rs12849510 Benign
66846 Q9UJV8 (PURG) S G 26 rs11574153 Benign
66847 Q9UJV8 (PURG) E K 143 rs7464560 Benign
66848 Q9UJV8 (PURG) E A 241 rs11574151 Benign
66849 Q9UJV9 (DDX41) R H 525 rs869312828 Disease: Myeloprolife rative/lymph oproliferati ve neoplasms, familial (MPLPF) [MIM:616871]
66850 Q9UJW0 (DCTN4) P T 95 rs11550931 Benign
66851 Q9UJW0 (DCTN4) Y C 263 rs35772018 Benign
66852 Q9UJW0 (DCTN4) F L 342 rs11954652 Benign
66853 Q9UJW0 (DCTN4) S N 438 rs3733923 Benign
66854 Q9UJW2 (TINAG) T A 3 rs16885197 Benign
66855 Q9UJW2 (TINAG) Q R 22 rs2297980 Benign
66856 Q9UJW2 (TINAG) S P 158 rs1058768 Benign
66857 Q9UJW2 (TINAG) V I 413 rs34011963 Benign
66858 Q9UJW2 (TINAG) I L 433 rs3736352 Benign
66859 Q9UJW3 (DNMT3L) R G 278 rs7354779 Benign
66860 Q9UJW7 (ZNF229) S F 156 rs2571174 Benign
66861 Q9UJW7 (ZNF229) R C 337 rs12151338 Benign
66862 Q9UJW7 (ZNF229) S N 417 rs57014690 Benign
66863 Q9UJW7 (ZNF229) G R 662 rs1434579 Benign
66864 Q9UJW7 (ZNF229) G R 804 rs10409807 Benign
66865 Q9UJW8 (ZNF180) A V 41 rs2571108 Benign
66866 Q9UJW8 (ZNF180) W C 89 rs2253563 Benign
66867 Q9UJW8 (ZNF180) C S 272 rs1897820 Benign
66868 Q9UJX0 (OSGIN1) E D 356 rs35145453 Benign
66869 Q9UJX2 (CDC23) P L 9 rs2231471 Benign
66870 Q9UJX2 (CDC23) E Q 78 rs17228304 Benign
66871 Q9UJX5 (ANAPC4) R Q 465 rs34811474 Benign
66872 Q9UJX5 (ANAPC4) E G 800 rs11550697 Benign
66873 Q9UJY1 (HSPB8) R M 78 rs55826713 Benign
66874 Q9UJY1 (HSPB8) P L 90 - Disease: Neuronopathy , distal hereditary motor, 2A (HMN2A) [MIM:158590]
66875 Q9UJY1 (HSPB8) N T 138 - Disease: Neuronopathy , distal hereditary motor, 2A (HMN2A) [MIM:158590]
66876 Q9UJY1 (HSPB8) K E 141 rs104894351 Disease: Neuronopathy , distal hereditary motor, 2A (HMN2A) [MIM:158590]
66877 Q9UJY1 (HSPB8) K M 141 - Disease: Neuronopathy , distal hereditary motor, 2A (HMN2A) [MIM:158590]
66878 Q9UJY1 (HSPB8) K N 141 rs104894345 Disease: Neuronopathy , distal hereditary motor, 2A (HMN2A) [MIM:158590]
66879 Q9UJY4 (GGA2) A P 424 rs1135045 Benign
66880 Q9UJZ1 (STOML2) L P 129 rs17856326 Benign
66881 Q9UK00 (C3orf18) A D 8 rs386598 Benign
66882 Q9UK00 (C3orf18) A V 162 rs1034405 Benign
66883 Q9UK05 (GDF2) R L 68 rs200330818 Disease: Telangiectas ia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]
66884 Q9UK05 (GDF2) P L 85 rs199804679 Disease: Telangiectas ia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]
66885 Q9UK05 (GDF2) R W 333 rs35129734 Disease: Telangiectas ia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]
66886 Q9UK10 (ZNF225) Q R 50 rs34863330 Benign
66887 Q9UK10 (ZNF225) T S 679 rs16978738 Benign
66888 Q9UK11 (ZNF223) L I 60 rs4130101 Benign
66889 Q9UK11 (ZNF223) L I 138 rs6509138 Benign
66890 Q9UK12 (ZNF222) K E 50 rs11880330 Benign
66891 Q9UK12 (ZNF222) V F 58 rs7258517 Benign
66892 Q9UK12 (ZNF222) R G 82 rs59926292 Benign
66893 Q9UK12 (ZNF222) G D 263 rs8112679 Benign
66894 Q9UK13 (ZNF221) V M 165 rs16976937 Benign
66895 Q9UK13 (ZNF221) F I 179 rs454301 Benign
66896 Q9UK13 (ZNF221) C R 256 rs439676 Benign
66897 Q9UK13 (ZNF221) P A 337 rs435590 Benign
66898 Q9UK13 (ZNF221) S T 519 rs365745 Benign
66899 Q9UK13 (ZNF221) G R 557 rs366111 Benign
66900 Q9UK17 (KCND3) V E 338 - Disease: Spinocerebel lar ataxia 19 (SCA19) [MIM:607346]
66901 Q9UK17 (KCND3) G V 345 rs797045634 Disease: Spinocerebel lar ataxia 19 (SCA19) [MIM:607346]
66902 Q9UK17 (KCND3) T P 352 rs397515476 Disease: Spinocerebel lar ataxia 19 (SCA19) [MIM:607346]
66903 Q9UK17 (KCND3) T M 377 - Disease: Spinocerebel lar ataxia 19 (SCA19) [MIM:607346]
66904 Q9UK17 (KCND3) G S 384 - Disease: Spinocerebel lar ataxia 19 (SCA19) [MIM:607346]
66905 Q9UK22 (FBXO2) K T 118 rs9614 Benign
66906 Q9UK23 (NAGPA) T I 465 rs7188856 Benign
66907 Q9UK32 (RPS6KA6) D N 692 rs6616890 Benign
66908 Q9UK39 (NOCT) H Y 140 rs2271777 Benign
66909 Q9UK53 (ING1) L R 125 rs7338333 Benign
66910 Q9UK53 (ING1) A D 335 - Disease: Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
66911 Q9UK53 (ING1) C S 358 - Disease: Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
66912 Q9UK53 (ING1) N S 359 - Disease: Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
66913 Q9UK55 (SERPINA10) K R 46 rs941590 Benign
66914 Q9UK55 (SERPINA10) S G 61 rs941591 Benign
66915 Q9UK55 (SERPINA10) G R 139 rs56137907 Benign
66916 Q9UK55 (SERPINA10) L Q 158 rs2232699 Benign
66917 Q9UK55 (SERPINA10) T S 161 rs2232700 Benign
66918 Q9UK55 (SERPINA10) R H 196 rs2232701 Benign
66919 Q9UK55 (SERPINA10) G S 271 rs2232708 Benign
66920 Q9UK55 (SERPINA10) Q P 384 - Benign
66921 Q9UK55 (SERPINA10) Q R 384 rs2232710 Benign
66922 Q9UK55 (SERPINA10) F L 420 rs546304706 Benign
66923 Q9UK61 (TASOR) Q P 38 rs958755 Benign
66924 Q9UK61 (TASOR) A G 831 rs17056999 Benign
66925 Q9UK61 (TASOR) V I 998 rs2291498 Benign
66926 Q9UK61 (TASOR) T R 1046 rs9835332 Benign
66927 Q9UK61 (TASOR) I V 1435 rs2291498 Benign
66928 Q9UK80 (USP21) P S 91 rs34779722 Benign
66929 Q9UK80 (USP21) G D 321 rs17356051 Benign
66930 Q9UK80 (USP21) P T 336 rs1127525 Benign
66931 Q9UK85 (DKKL1) L R 24 rs2303757 Benign
66932 Q9UK85 (DKKL1) A T 29 rs919364 Benign
66933 Q9UK85 (DKKL1) L I 104 rs35693137 Benign
66934 Q9UK85 (DKKL1) M R 109 rs2303759 Benign
66935 Q9UK85 (DKKL1) G S 187 rs1054770 Benign
66936 Q9UK85 (DKKL1) E K 214 rs2288481 Benign
66937 Q9UK96 (FBXO10) R H 44 rs780121584 Benign
66938 Q9UK96 (FBXO10) H N 212 rs7044561 Benign
66939 Q9UK96 (FBXO10) R W 825 rs573535073 Benign
66940 Q9UK99 (FBXO3) V I 221 rs1402954 Benign
66941 Q9UKA2 (FBXL4) I T 205 rs1350566881 Disease: Mitochondria l DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
66942 Q9UKA2 (FBXL4) L P 481 rs772037717 Disease: Mitochondria l DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
66943 Q9UKA2 (FBXL4) R W 482 rs398123061 Disease: Mitochondria l DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
66944 Q9UKA2 (FBXL4) I N 551 rs1554215979 Disease: Mitochondria l DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
66945 Q9UKA2 (FBXL4) D G 565 rs398123062 Disease: Mitochondria l DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
66946 Q9UKA2 (FBXL4) G A 568 rs398123060 Disease: Mitochondria l DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
66947 Q9UKA2 (FBXL4) Q P 597 rs201989042 Disease: Mitochondria l DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
66948 Q9UKA4 (AKAP11) S C 721 rs2236364 Benign
66949 Q9UKA4 (AKAP11) H R 1070 rs17063163 Benign
66950 Q9UKA4 (AKAP11) L F 1410 rs17063167 Benign
66951 Q9UKA8 (RCAN3) T N 236 rs16829813 Benign
66952 Q9UKB3 (DNAJC12) R P 72 - Disease: Hyperphenyla laninemia, mild, non-BH4-defi cient (HPANBH4) [MIM:617384]
66953 Q9UKB3 (DNAJC12) M I 124 rs35690028 Benign
66954 Q9UKB3 (DNAJC12) C W 129 rs36099123 Benign
66955 Q9UKB5 (AJAP1) G R 263 rs242056 Benign
66956 Q9UKE5 (TNIK) K E 778 rs55778284 Benign
66957 Q9UKE5 (TNIK) G E 910 rs35090763 Benign
66958 Q9UKE5 (TNIK) A T 999 rs17857452 Benign
66959 Q9UKF2 (ADAM30) L P 359 rs2641348 Benign
66960 Q9UKF2 (ADAM30) T A 737 rs35273427 Benign
66961 Q9UKF6 (CPSF3) E G 142 rs17850770 Benign
66962 Q9UKG1 (APPL1) D N 94 rs796065047 Disease: Maturity- onset diabetes of the young 14 (MODY14) [MIM:616511]
66963 Q9UKG1 (APPL1) A V 108 rs4381906 Benign
66964 Q9UKG1 (APPL1) E G 700 rs11544593 Benign
66965 Q9UKG4 (SLC13A4) P S 451 rs36004833 Benign
66966 Q9UKG9 (CROT) R H 94 rs3827653 Benign
66967 Q9UKG9 (CROT) V L 474 rs7785206 Benign
66968 Q9UKI3 (VPREB3) R W 4 rs34372784 Benign
66969 Q9UKI8 (TLK1) R C 121 - Benign
66970 Q9UKI9 (POU2F3) H R 152 rs7110845 Benign
66971 Q9UKI9 (POU2F3) R K 390 rs2282537 Benign
66972 Q9UKJ0 (PILRB) I T 63 rs11771799 Benign
66973 Q9UKJ0 (PILRB) N D 66 rs11761306 Benign
66974 Q9UKJ1 (PILRA) R G 78 rs1859788 Benign
66975 Q9UKJ1 (PILRA) S L 279 rs34266222 Benign
66976 Q9UKJ3 (GPATCH8) A P 979 rs727502862 Benign
66977 Q9UKJ3 (GPATCH8) H Q 1012 rs3744427 Benign
66978 Q9UKJ3 (GPATCH8) R Q 1043 rs741902 Benign
66979 Q9UKJ3 (GPATCH8) C W 1161 rs936018 Benign
66980 Q9UKJ3 (GPATCH8) S G 1259 rs760339 Benign
66981 Q9UKK3 (PARP4) I V 81 rs35200240 Benign
66982 Q9UKK3 (PARP4) S N 122 rs9578751 Benign
66983 Q9UKK3 (PARP4) F Y 215 rs9318600 Benign
66984 Q9UKK3 (PARP4) P L 792 rs4986818 Benign
66985 Q9UKK3 (PARP4) S N 873 rs7140044 Benign
66986 Q9UKK3 (PARP4) A T 899 rs2275660 Benign
66987 Q9UKK3 (PARP4) K R 991 rs34689435 Benign
66988 Q9UKK3 (PARP4) V I 1012 rs9581043 Benign
66989 Q9UKK3 (PARP4) S T 1253 rs4986822 Benign
66990 Q9UKK3 (PARP4) G A 1265 rs1050110 Benign
66991 Q9UKK3 (PARP4) G R 1280 rs13428 Benign
66992 Q9UKK9 (NUDT5) I T 123 rs34863826 Benign
66993 Q9UKL3 (CASP8AP2) P S 1659 rs3799896 Benign
66994 Q9UKL6 (PCTP) E A 10 rs12941739 Benign
66995 Q9UKM7 (MAN1B1) N S 59 rs968733 Benign
66996 Q9UKM7 (MAN1B1) R C 334 rs387906886 Disease: Mental retardation, autosomal recessive 15 (MRT15) [MIM:614202]
66997 Q9UKM7 (MAN1B1) E K 397 rs387906885 Disease: Mental retardation, autosomal recessive 15 (MRT15) [MIM:614202]
66998 Q9UKM9 (RALY) V M 139 rs35191085 Benign
66999 Q9UKM9 (RALY) Q R 215 rs3180568 Benign
67000 Q9UKM9 (RALY) G S 251 rs2281209 Benign
67001 Q9UKN1 (MUC12) T R 4775 rs11766125 Benign
67002 Q9UKN7 (MYO15A) L P 1806 - Disease: Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]
67003 Q9UKN7 (MYO15A) C R 1977 rs854777 Benign
67004 Q9UKN7 (MYO15A) G R 2018 rs2272571 Benign
67005 Q9UKN7 (MYO15A) N Y 2111 rs121908966 Disease: Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]
67006 Q9UKN7 (MYO15A) I F 2113 rs121908965 Disease: Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]
67007 Q9UKN7 (MYO15A) T I 2205 rs121908970 Benign
67008 Q9UKN7 (MYO15A) A T 2490 rs16960959 Benign
67009 Q9UKN7 (MYO15A) Y F 2682 rs712270 Benign
67010 Q9UKN7 (MYO15A) Q H 2716 rs121908969 Disease: Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]
67011 Q9UKP4 (ADAMTS7) S P 214 rs3825807 Benign
67012 Q9UKP4 (ADAMTS7) T M 307 rs2127898 Benign
67013 Q9UKP4 (ADAMTS7) T A 1319 rs11630236 Benign
67014 Q9UKP4 (ADAMTS7) G S 1414 rs2929155 Benign
67015 Q9UKP4 (ADAMTS7) G A 1583 rs7495616 Benign
67016 Q9UKP6 (UTS2R) A P 70 rs34442190 Benign
67017 Q9UKQ2 (ADAM28) R M 219 rs9314282 Benign
67018 Q9UKQ2 (ADAM28) E D 226 rs17736699 Benign
67019 Q9UKQ2 (ADAM28) N S 493 rs7001647 Benign
67020 Q9UKQ2 (ADAM28) T K 593 rs36041430 Benign
67021 Q9UKQ2 (ADAM28) T P 604 rs35617826 Benign
67022 Q9UKQ2 (ADAM28) M I 684 rs7829965 Benign
67023 Q9UKQ2 (ADAM28) V M 765 rs7814768 Benign
67024 Q9UKR3 (KLK13) H Y 109 rs34089525 Benign
67025 Q9UKR8 (TSPAN16) Y D 53 rs34162761 Benign
67026 Q9UKR8 (TSPAN16) L P 55 rs17001344 Benign
67027 Q9UKR8 (TSPAN16) S C 233 rs318687 Benign
67028 Q9UKS6 (PACSIN3) A V 61 rs7106654 Benign
67029 Q9UKS7 (IKZF2) N S 93 rs16849611 Benign
67030 Q9UKT4 (FBXO5) Q E 107 rs2073260 Benign
67031 Q9UKT4 (FBXO5) L F 164 rs7763565 Benign
67032 Q9UKT6 (FBXL21P) F L 76 rs7705168 Benign
67033 Q9UKT6 (FBXL21P) P L 209 rs40986 Benign
67034 Q9UKT7 (FBXL3) C R 358 - Disease: Intellectual developmenta l disorder with short stature, facial anomalies, and speech defects (IDDSFAS) [MIM:606220]
67035 Q9UKU7 (ACAD8) M I 128 rs374317179 Disease: Isobutyryl- CoA dehydrogenas e deficiency (IBDD) [MIM:611283]
67036 Q9UKU7 (ACAD8) D Y 134 rs367857040 Disease: Isobutyryl- CoA dehydrogenas e deficiency (IBDD) [MIM:611283]
67037 Q9UKU7 (ACAD8) G R 137 rs371449613 Disease: Isobutyryl- CoA dehydrogenas e deficiency (IBDD) [MIM:611283]
67038 Q9UKU7 (ACAD8) M T 152 rs121908418 Disease: Isobutyryl- CoA dehydrogenas e deficiency (IBDD) [MIM:611283]
67039 Q9UKU7 (ACAD8) V I 203 rs759877257 Disease: Isobutyryl- CoA dehydrogenas e deficiency (IBDD) [MIM:611283]
67040 Q9UKU7 (ACAD8) R Q 302 rs121908422 Disease: Isobutyryl- CoA dehydrogenas e deficiency (IBDD) [MIM:611283]
67041 Q9UKU7 (ACAD8) A T 320 rs200620279 Disease: Isobutyryl- CoA dehydrogenas e deficiency (IBDD) [MIM:611283]
67042 Q9UKU7 (ACAD8) R C 334 rs778823613 Disease: Isobutyryl- CoA dehydrogenas e deficiency (IBDD) [MIM:611283]
67043 Q9UKU7 (ACAD8) Q R 385 rs367996531 Disease: Isobutyryl- CoA dehydrogenas e deficiency (IBDD) [MIM:611283]
67044 Q9UKV0 (HDAC9) P T 921 rs1333490692 Benign
67045 Q9UKV3 (ACIN1) R K 257 rs11555803 Benign
67046 Q9UKV3 (ACIN1) I M 311 rs3811182 Benign
67047 Q9UKV3 (ACIN1) A P 447 rs941719 Benign
67048 Q9UKV3 (ACIN1) S P 467 rs1885097 Benign
67049 Q9UKV3 (ACIN1) S F 478 rs3751501 Benign
67050 Q9UKW4 (VAV3) D N 139 rs34318889 Benign
67051 Q9UKW4 (VAV3) T S 298 rs7528153 Benign
67052 Q9UKW4 (VAV3) P S 616 rs12410676 Benign
67053 Q9UKW4 (VAV3) Q H 618 rs12403266 Benign
67054 Q9UKX2 (MYH2) E K 706 rs121434589 Disease: Myopathy, proximal, and ophthalmople gia (MYPOP) [MIM:605637]
67055 Q9UKX2 (MYH2) L V 1061 rs142586585 Benign
67056 Q9UKX2 (MYH2) R Q 1927 rs34161789 Benign
67057 Q9UKX3 (MYH13) G R 701 rs2190729 Benign
67058 Q9UKX3 (MYH13) M V 1071 rs2074877 Benign
67059 Q9UKX3 (MYH13) D E 1076 rs2074876 Benign
67060 Q9UKX3 (MYH13) R Q 1294 rs17690195 Benign
67061 Q9UKX3 (MYH13) H R 1862 rs3744550 Benign
67062 Q9UKX5 (ITGA11) V M 433 rs2306022 Benign
67063 Q9UKX5 (ITGA11) M L 471 rs2306024 Benign
67064 Q9UKX5 (ITGA11) L R 524 rs7168069 Benign
67065 Q9UKX5 (ITGA11) Q K 891 rs2271725 Benign
67066 Q9UKX5 (ITGA11) P L 972 rs4777035 Benign
67067 Q9UKX5 (ITGA11) M I 1003 - Benign
67068 Q9UKX5 (ITGA11) L V 1093 - Benign
67069 Q9UKY0 (PRND) S I 6 - Benign
67070 Q9UKY0 (PRND) S P 22 - Benign
67071 Q9UKY0 (PRND) T P 26 - Benign
67072 Q9UKY0 (PRND) H R 31 - Benign
67073 Q9UKY0 (PRND) P L 56 rs35453518 Benign
67074 Q9UKY0 (PRND) F L 70 - Benign
67075 Q9UKY0 (PRND) L S 149 - Benign
67076 Q9UKY0 (PRND) T M 174 rs2245220 Benign
67077 Q9UKY4 (POMT2) A E 54 rs8177536 Benign
67078 Q9UKY4 (POMT2) T M 184 rs267606971 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C2 (MDDGC2) [MIM:613158]
67079 Q9UKY4 (POMT2) I N 198 rs267606972 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
67080 Q9UKY4 (POMT2) G D 246 rs267606966 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
67081 Q9UKY4 (POMT2) G S 353 rs267606970 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
67082 Q9UKY4 (POMT2) V F 373 rs267606965 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
67083 Q9UKY4 (POMT2) R P 413 rs190285831 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
67084 Q9UKY4 (POMT2) H R 478 rs765346043 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
67085 Q9UKY4 (POMT2) G V 482 rs267606968 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
67086 Q9UKY4 (POMT2) Y C 666 rs200198778 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
67087 Q9UKY4 (POMT2) F S 717 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
67088 Q9UKY4 (POMT2) G E 726 rs267606969 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
67089 Q9UKY4 (POMT2) W R 748 rs267606964 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
67090 Q9UKY4 (POMT2) W S 748 rs267606967 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C2 (MDDGC2) [MIM:613158]
67091 Q9UKZ4 (TENM1) Y H 40 rs36065191 Benign
67092 Q9UKZ4 (TENM1) A D 174 rs139486546 Benign
67093 Q9UKZ4 (TENM1) M T 371 rs2213591 Benign
67094 Q9UKZ4 (TENM1) M V 632 rs16999334 Benign
67095 Q9UKZ4 (TENM1) K E 641 rs6649271 Benign
67096 Q9UKZ9 (PCOLCE2) V A 280 rs35692900 Benign
67097 Q9UKZ9 (PCOLCE2) P T 292 rs17554211 Benign
67098 Q9UL01 (DSE) T I 25 rs10485183 Benign
67099 Q9UL01 (DSE) P L 34 rs35548455 Benign
67100 Q9UL01 (DSE) S L 268 rs398122361 Disease: Ehlers- Danlos syndrome, musculocontr actural type 2 (EDSMC2) [MIM:615539]
67101 Q9UL01 (DSE) I V 282 rs34994230 Benign
67102 Q9UL12 (SARDH) G C 22 rs35559818 Benign
67103 Q9UL12 (SARDH) V F 71 rs397514504 Disease: Sarcosinemia (SARCOS) [MIM:268900]
67104 Q9UL12 (SARDH) P L 287 rs149481147 Disease: Sarcosinemia (SARCOS) [MIM:268900]
67105 Q9UL12 (SARDH) E D 372 rs35218200 Benign
67106 Q9UL12 (SARDH) R H 614 rs2073817 Benign
67107 Q9UL12 (SARDH) M V 648 rs886016 Benign
67108 Q9UL15 (BAG5) C W 157 rs17854644 Benign
67109 Q9UL16 (CFAP45) E G 291 rs16842789 Benign
67110 Q9UL17 (TBX21) H Q 33 rs2240017 Benign
67111 Q9UL17 (TBX21) I V 339 rs12721471 Benign
67112 Q9UL18 (AGO1) G S 199 - Disease: -
67113 Q9UL19 (PLAAT4) V L 69 rs35502888 Benign
67114 Q9UL19 (PLAAT4) A V 162 rs35845275 Benign
67115 Q9UL33 (TRAPPC2L) D Y 37 rs766510287 Disease: Encephalopat hy, progressive, early-onset, with episodic rhabdomyolys is (PEERB) [MIM:618331]
67116 Q9UL36 (ZNF236) S L 166 rs2276211 Benign
67117 Q9UL36 (ZNF236) I V 613 rs608433 Benign
67118 Q9UL36 (ZNF236) P S 614 rs8093707 Benign
67119 Q9UL36 (ZNF236) S G 643 rs3794873 Benign
67120 Q9UL36 (ZNF236) A T 818 rs3752078 Benign
67121 Q9UL41 (PNMA3) G S 382 rs36042591 Benign
67122 Q9UL41 (PNMA3) R Q 386 rs35603712 Benign
67123 Q9UL42 (PNMA2) E K 186 rs2233701 Benign
67124 Q9UL46 (PSME2) H P 89 rs7146672 Benign
67125 Q9UL49 (TCFL5) N D 272 rs17854409 Benign
67126 Q9UL49 (TCFL5) E D 380 rs34304654 Benign
67127 Q9UL51 (HCN2) R Q 527 rs55687900 Benign
67128 Q9UL52 (TMPRSS11E) Y C 303 rs976002 Benign
67129 Q9UL58 (ZNF215) N S 36 rs11041107 Benign
67130 Q9UL58 (ZNF215) V I 38 rs35111903 Benign
67131 Q9UL58 (ZNF215) M V 119 rs11041108 Benign
67132 Q9UL58 (ZNF215) S F 263 rs11041115 Benign
67133 Q9UL58 (ZNF215) V L 323 rs2239730 Benign
67134 Q9UL58 (ZNF215) M V 376 rs2239729 Benign
67135 Q9UL59 (ZNF214) Y C 66 rs1156526 Benign
67136 Q9UL59 (ZNF214) L H 128 rs1156525 Benign
67137 Q9UL59 (ZNF214) H R 160 rs16921097 Benign
67138 Q9UL59 (ZNF214) I R 185 rs2239734 Benign
67139 Q9UL62 (TRPC5) R H 702 rs36047478 Benign
67140 Q9UL63 (MKLN1) C G 469 rs323844 Benign
67141 Q9ULB1 (NRXN1) G A 28 rs199598542 Benign
67142 Q9ULB1 (NRXN1) Y N 400 rs17040901 Benign
67143 Q9ULB4 (CDH9) Y C 6 rs2288467 Benign
67144 Q9ULB4 (CDH9) A V 38 rs2288466 Benign
67145 Q9ULB5 (CDH7) D E 370 rs2306675 Benign
67146 Q9ULB5 (CDH7) N S 576 rs2291343 Benign
67147 Q9ULC3 (RAB23) M K 12 - Disease: Carpenter syndrome 1 (CRPT1) [MIM:201000]
67148 Q9ULC3 (RAB23) K R 40 rs45442500 Benign
67149 Q9ULC3 (RAB23) C R 85 - Disease: Carpenter syndrome 1 (CRPT1) [MIM:201000]
67150 Q9ULC3 (RAB23) S A 101 rs45479896 Benign
67151 Q9ULC3 (RAB23) G S 207 rs1040461 Benign
67152 Q9ULC4 (MCTS1) L H 106 rs2233110 Benign
67153 Q9ULC5 (ACSL5) M V 182 rs3736946 Benign
67154 Q9ULC5 (ACSL5) T A 486 rs12254915 Benign
67155 Q9ULC6 (PADI1) V M 649 rs16824215 Benign
67156 Q9ULD0 (OGDHL) P L 511 rs17856755 Benign
67157 Q9ULD0 (OGDHL) D N 573 rs17852386 Benign
67158 Q9ULD0 (OGDHL) S C 623 rs34877195 Benign
67159 Q9ULD0 (OGDHL) T M 637 rs11101224 Benign
67160 Q9ULD0 (OGDHL) N S 725 rs2293239 Benign
67161 Q9ULD2 (MTUS1) Q K 75 rs61733703 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
67162 Q9ULD2 (MTUS1) C R 148 rs3739407 Benign
67163 Q9ULD2 (MTUS1) T S 186 rs141609607 Benign
67164 Q9ULD2 (MTUS1) T M 425 rs61733694 Benign
67165 Q9ULD2 (MTUS1) K T 453 rs17690844 Benign
67166 Q9ULD2 (MTUS1) A S 563 - Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
67167 Q9ULD2 (MTUS1) H R 575 rs209569 Benign
67168 Q9ULD2 (MTUS1) N H 873 rs187103704 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
67169 Q9ULD2 (MTUS1) K T 911 rs61748836 Benign
67170 Q9ULD2 (MTUS1) K T 1063 rs17853231 Benign
67171 Q9ULD2 (MTUS1) E Q 1105 rs61733705 Benign
67172 Q9ULD2 (MTUS1) Q R 1201 rs567116808 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
67173 Q9ULD4 (BRPF3) S G 177 rs45504893 Benign
67174 Q9ULD4 (BRPF3) A G 278 rs17658935 Benign
67175 Q9ULD5 (ZNF777) R W 70 rs3735318 Benign
67176 Q9ULD5 (ZNF777) V A 115 rs3735319 Benign
67177 Q9ULD5 (ZNF777) A T 512 rs17852167 Benign
67178 Q9ULD6 (INTU) A T 452 rs150681845 Benign
67179 Q9ULD9 (ZNF608) T N 721 rs6862252 Benign
67180 Q9ULE0 (WWC3) A T 495 rs5934750 Benign
67181 Q9ULE0 (WWC3) Y C 593 rs36076296 Benign
67182 Q9ULE0 (WWC3) P L 831 rs55787431 Benign
67183 Q9ULE3 (DENND2A) P H 156 rs269243 Benign
67184 Q9ULE3 (DENND2A) E K 729 rs2293177 Benign
67185 Q9ULE3 (DENND2A) I T 777 rs6464833 Benign
67186 Q9ULE4 (FAM184B) N S 952 rs16895365 Benign
67187 Q9ULE4 (FAM184B) V A 1042 rs6825562 Benign
67188 Q9ULE6 (PALD1) S L 141 rs2275060 Benign
67189 Q9ULE6 (PALD1) R C 721 rs3740447 Benign
67190 Q9ULE6 (PALD1) G R 828 rs10999406 Benign
67191 Q9ULF5 (SLC39A10) T S 87 rs13419724 Benign
67192 Q9ULG1 (INO80) I V 882 rs34153025 Benign
67193 Q9ULG1 (INO80) V G 1108 rs34178030 Benign
67194 Q9ULG6 (CCPG1) S P 44 rs11555304 Benign
67195 Q9ULG6 (CCPG1) E V 161 rs17853336 Benign
67196 Q9ULG6 (CCPG1) Y H 418 rs34958422 Benign
67197 Q9ULG6 (CCPG1) R L 436 rs17857026 Benign
67198 Q9ULG6 (CCPG1) A V 477 rs1063562 Benign
67199 Q9ULG6 (CCPG1) A D 517 rs1063563 Benign
67200 Q9ULG6 (CCPG1) G D 553 rs1063565 Benign
67201 Q9ULG6 (CCPG1) G S 553 rs1063564 Benign
67202 Q9ULG6 (CCPG1) N K 590 rs1063566 Benign
67203 Q9ULG6 (CCPG1) K E 627 rs17853335 Benign
67204 Q9ULG6 (CCPG1) T I 646 rs17857027 Benign
67205 Q9ULG6 (CCPG1) H R 673 rs1063567 Benign
67206 Q9ULH0 (KIDINS220) I T 538 rs2289229 Benign
67207 Q9ULH0 (KIDINS220) R H 1307 rs2304591 Benign
67208 Q9ULH0 (KIDINS220) Q H 1608 rs1044280 Benign
67209 Q9ULH1 (ASAP1) I V 728 rs966185 Benign
67210 Q9ULH4 (LRFN2) D N 770 rs3734559 Benign
67211 Q9ULI0 (ATAD2B) S P 118 rs10210982 Benign
67212 Q9ULI1 (NWD2) L M 569 rs4634233 Benign
67213 Q9ULI3 (HEG1) Q R 145 rs4404487 Benign
67214 Q9ULI3 (HEG1) S P 305 rs2981546 Benign
67215 Q9ULI3 (HEG1) F S 602 rs6790837 Benign
67216 Q9ULI3 (HEG1) V L 980 rs10804567 Benign
67217 Q9ULI3 (HEG1) M T 1039 rs6438869 Benign
67218 Q9ULJ1 (ODF2L) R H 177 rs12032435 Benign
67219 Q9ULJ1 (ODF2L) K R 350 rs17854440 Benign
67220 Q9ULJ3 (ZBTB21) N S 185 rs871545 Benign
67221 Q9ULJ3 (ZBTB21) K Q 218 rs871546 Benign
67222 Q9ULJ6 (ZMIZ1) K R 91 - Disease: Neurodevelop mental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659]
67223 Q9ULJ6 (ZMIZ1) T I 296 - Disease: Neurodevelop mental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659]
67224 Q9ULJ6 (ZMIZ1) T K 296 - Disease: Neurodevelop mental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659]
67225 Q9ULJ6 (ZMIZ1) T I 298 - Disease: Neurodevelop mental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659]
67226 Q9ULJ6 (ZMIZ1) T M 300 - Disease: Neurodevelop mental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659]
67227 Q9ULJ8 (PPP1R9A) M V 331 rs10230714 Benign
67228 Q9ULK0 (GRID1) V I 529 rs2306265 Benign
67229 Q9ULK4 (MED23) R Q 611 - Disease: Mental retardation, autosomal recessive 18 (MRT18) [MIM:614249]
67230 Q9ULK5 (VANGL2) S F 84 - Disease: Neural tube defects (NTD) [MIM:182940]
67231 Q9ULK5 (VANGL2) R C 353 rs267607167 Disease: Neural tube defects (NTD) [MIM:182940]
67232 Q9ULK5 (VANGL2) F S 437 rs267607168 Disease: Neural tube defects (NTD) [MIM:182940]
67233 Q9ULL0 (KIAA1210) G V 103 rs5910522 Benign
67234 Q9ULL0 (KIAA1210) V F 208 - Benign
67235 Q9ULL0 (KIAA1210) L F 419 rs35613130 Benign
67236 Q9ULL0 (KIAA1210) P A 844 rs7063611 Benign
67237 Q9ULL0 (KIAA1210) E A 852 rs7050904 Benign
67238 Q9ULL0 (KIAA1210) I F 945 rs3761592 Benign
67239 Q9ULL0 (KIAA1210) R W 1032 rs17335909 Benign
67240 Q9ULL0 (KIAA1210) Q E 1568 - Benign
67241 Q9ULL0 (KIAA1210) E G 1616 rs2305570 Benign
67242 Q9ULL1 (PLEKHG1) Q R 787 rs17080381 Benign
67243 Q9ULL1 (PLEKHG1) V A 1071 rs17080410 Benign
67244 Q9ULL1 (PLEKHG1) L S 1321 rs17054318 Benign
67245 Q9ULL1 (PLEKHG1) Q P 1377 rs58786678 Benign
67246 Q9ULL4 (PLXNB3) A T 126 rs34360382 Benign
67247 Q9ULL4 (PLXNB3) R Q 550 rs782213788 Benign
67248 Q9ULL4 (PLXNB3) V I 598 rs2266879 Benign
67249 Q9ULL4 (PLXNB3) E D 1156 rs6643791 Benign
67250 Q9ULL4 (PLXNB3) M T 1535 rs5987155 Benign
67251 Q9ULL4 (PLXNB3) E A 1651 rs34762690 Benign
67252 Q9ULL8 (SHROOM4) P S 627 rs150861758 Benign
67253 Q9ULL8 (SHROOM4) R H 722 rs3761506 Benign
67254 Q9ULL8 (SHROOM4) I T 807 rs3761505 Benign
67255 Q9ULL8 (SHROOM4) D G 970 rs2281571 Benign
67256 Q9ULL8 (SHROOM4) S L 1089 rs121434620 Disease: Mental retardation, X-linked, syndromic, Stocco dos Santos type (SDSX) [MIM:300434]
67257 Q9ULL8 (SHROOM4) L F 1367 rs28362302 Benign
67258 Q9ULM0 (PLEKHH1) N S 75 rs7150973 Benign
67259 Q9ULM0 (PLEKHH1) Q L 113 rs3825723 Benign
67260 Q9ULM0 (PLEKHH1) R Q 322 rs2236235 Benign
67261 Q9ULM0 (PLEKHH1) T A 430 rs3825725 Benign
67262 Q9ULM0 (PLEKHH1) M V 438 rs17104428 Benign
67263 Q9ULM0 (PLEKHH1) H R 735 rs11158685 Benign
67264 Q9ULM3 (YEATS2) I V 184 rs16858033 Benign
67265 Q9ULM3 (YEATS2) V I 530 rs262993 Benign
67266 Q9ULM3 (YEATS2) Q H 993 rs3211095 Benign
67267 Q9ULP9 (TBC1D24) Q E 20 rs201257588 Disease: Deafness, onychodystro phy, osteodystrop hy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]
67268 Q9ULP9 (TBC1D24) R C 40 rs398122966 Disease: Deafness, onychodystro phy, osteodystrop hy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]
67269 Q9ULP9 (TBC1D24) D Y 70 rs587777147 Disease: Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617]
67270 Q9ULP9 (TBC1D24) A D 113 rs770820144 Disease: Epileptic encephalopat hy, early infantile, 16 (EIEE16) [MIM:615338]
67271 Q9ULP9 (TBC1D24) D H 147 rs267607103 Disease: Familial infantile myoclonic epilepsy (FIME) [MIM:605021]
67272 Q9ULP9 (TBC1D24) L P 159 rs863223337 Disease: Epileptic encephalopat hy, early infantile, 16 (EIEE16) [MIM:615338]
67273 Q9ULP9 (TBC1D24) S L 178 rs483352866 Disease: Deafness, autosomal dominant, 65 (DFNA65) [MIM:616044]
67274 Q9ULP9 (TBC1D24) F S 229 rs397514713 Disease: Epileptic encephalopat hy, early infantile, 16 (EIEE16) [MIM:615338]
67275 Q9ULP9 (TBC1D24) R C 242 rs398122965 Disease: Deafness, onychodystro phy, osteodystrop hy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]
67276 Q9ULP9 (TBC1D24) F L 251 rs267607104 Disease: Familial infantile myoclonic epilepsy (FIME) [MIM:605021]
67277 Q9ULP9 (TBC1D24) R P 293 rs199700840 Disease: Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617]
67278 Q9ULP9 (TBC1D24) F L 295 rs72768728 Benign
67279 Q9ULP9 (TBC1D24) L F 333 rs797044548 Disease: Deafness, onychodystro phy, osteodystrop hy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]
67280 Q9ULP9 (TBC1D24) R H 360 - Disease: Epilepsy, rolandic, with proxysmal exercise- induce dystonia and writer's cramp (EPRPDC) [MIM:608105]
67281 Q9ULP9 (TBC1D24) A V 500 - Disease: Epilepsy, rolandic, with proxysmal exercise- induce dystonia and writer's cramp (EPRPDC) [MIM:608105]
67282 Q9ULP9 (TBC1D24) G R 501 - Disease: Epilepsy, rolandic, with proxysmal exercise- induce dystonia and writer's cramp (EPRPDC) [MIM:608105]
67283 Q9ULP9 (TBC1D24) A V 515 rs267607105 Disease: Familial infantile myoclonic epilepsy (FIME) [MIM:605021]
67284 Q9ULQ0 (STRIP2) R Q 383 rs2242030 Benign
67285 Q9ULS5 (TMCC3) Y D 16 rs1274523 Benign
67286 Q9ULS5 (TMCC3) P Q 232 rs17854038 Benign
67287 Q9ULT0 (TTC7A) E K 71 rs147914967 Disease: Gastrointest inal defects and immunodefici ency syndrome (GIDID) [MIM:243150]
67288 Q9ULT0 (TTC7A) L P 346 - Disease: Gastrointest inal defects and immunodefici ency syndrome (GIDID) [MIM:243150]
67289 Q9ULT0 (TTC7A) L P 399 - Disease: Gastrointest inal defects and immunodefici ency syndrome (GIDID) [MIM:243150]
67290 Q9ULT0 (TTC7A) V L 538 rs2304290 Benign
67291 Q9ULT0 (TTC7A) S L 539 rs776906926 Disease: Gastrointest inal defects and immunodefici ency syndrome (GIDID) [MIM:243150]
67292 Q9ULT0 (TTC7A) V I 545 rs6755258 Benign
67293 Q9ULT0 (TTC7A) A D 551 - Disease: Gastrointest inal defects and immunodefici ency syndrome (GIDID) [MIM:243150]
67294 Q9ULT0 (TTC7A) K R 606 rs139010200 Disease: Gastrointest inal defects and immunodefici ency syndrome (GIDID) [MIM:243150]
67295 Q9ULT0 (TTC7A) S P 672 rs149602485 Disease: Gastrointest inal defects and immunodefici ency syndrome (GIDID) [MIM:243150]
67296 Q9ULT0 (TTC7A) L P 823 rs587776972 Disease: Gastrointest inal defects and immunodefici ency syndrome (GIDID) [MIM:243150]
67297 Q9ULT0 (TTC7A) A T 832 rs876657393 Disease: Gastrointest inal defects and immunodefici ency syndrome (GIDID) [MIM:243150]
67298 Q9ULT8 (HECTD1) Q H 656 rs11620816 Benign
67299 Q9ULT8 (HECTD1) L P 2027 rs1315794 Benign
67300 Q9ULU4 (ZMYND8) V A 752 rs2275801 Benign
67301 Q9ULV0 (MYO5B) C G 10 rs16951438 Benign
67302 Q9ULV0 (MYO5B) V G 108 rs121908103 Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67303 Q9ULV0 (MYO5B) T A 126 rs1815930 Benign
67304 Q9ULV0 (MYO5B) A E 143 - Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67305 Q9ULV0 (MYO5B) G R 168 rs1324907355 Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67306 Q9ULV0 (MYO5B) R H 219 rs1053713532 Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67307 Q9ULV0 (MYO5B) K N 307 rs17659179 Benign
67308 Q9ULV0 (MYO5B) G R 316 rs753558336 Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67309 Q9ULV0 (MYO5B) R H 401 rs1555648414 Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67310 Q9ULV0 (MYO5B) G R 435 rs1283622290 Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67311 Q9ULV0 (MYO5B) N S 456 - Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67312 Q9ULV0 (MYO5B) C R 514 - Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67313 Q9ULV0 (MYO5B) F S 538 - Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67314 Q9ULV0 (MYO5B) I F 550 - Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67315 Q9ULV0 (MYO5B) R C 656 rs121908105 Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67316 Q9ULV0 (MYO5B) P L 660 rs121908106 Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67317 Q9ULV0 (MYO5B) R H 918 rs2298624 Benign
67318 Q9ULV0 (MYO5B) K R 942 rs2277716 Benign
67319 Q9ULV0 (MYO5B) L R 1556 - Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
67320 Q9ULV0 (MYO5B) M V 1688 rs112417235 Benign
67321 Q9ULV1 (FZD4) G D 36 rs80358281 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67322 Q9ULV1 (FZD4) E Q 40 rs139401671 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67323 Q9ULV1 (FZD4) H Y 69 rs80358282 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67324 Q9ULV1 (FZD4) M T 105 rs80358285 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67325 Q9ULV1 (FZD4) M V 105 rs80358284 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67326 Q9ULV1 (FZD4) I T 114 - Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67327 Q9ULV1 (FZD4) M V 157 rs80358286 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67328 Q9ULV1 (FZD4) P S 168 rs61735303 Benign
67329 Q9ULV1 (FZD4) C R 181 rs80358287 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67330 Q9ULV1 (FZD4) K N 203 rs1476724511 Benign
67331 Q9ULV1 (FZD4) C R 204 rs80358288 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67332 Q9ULV1 (FZD4) C Y 204 rs1064794064 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67333 Q9ULV1 (FZD4) M K 223 - Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67334 Q9ULV1 (FZD4) I V 256 rs104894223 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67335 Q9ULV1 (FZD4) W C 335 rs80358292 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67336 Q9ULV1 (FZD4) M V 342 rs80358293 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67337 Q9ULV1 (FZD4) R Q 417 rs80358294 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67338 Q9ULV1 (FZD4) T P 445 rs80358297 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67339 Q9ULV1 (FZD4) G D 488 rs80358298 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67340 Q9ULV1 (FZD4) S F 497 rs80358300 Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67341 Q9ULV1 (FZD4) G R 525 - Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780]
67342 Q9ULV3 (CIZ1) P S 47 - Disease: -
67343 Q9ULV3 (CIZ1) P L 50 rs747696276 Benign
67344 Q9ULV3 (CIZ1) A T 219 rs45588035 Benign
67345 Q9ULV3 (CIZ1) S G 264 rs397514566 Disease: -
67346 Q9ULV3 (CIZ1) E G 370 rs45554035 Benign
67347 Q9ULV3 (CIZ1) Q E 394 rs200010931 Benign
67348 Q9ULV3 (CIZ1) S F 577 rs780188256 Benign
67349 Q9ULV3 (CIZ1) S F 578 rs12334 Benign
67350 Q9ULV3 (CIZ1) V M 638 rs11549266 Benign
67351 Q9ULV3 (CIZ1) R M 672 - Disease: -
67352 Q9ULV3 (CIZ1) R Q 847 rs11549260 Benign
67353 Q9ULV5 (HSF4) A D 19 rs121909049 Disease: Cataract 5, multiple types (CTRCT5) [MIM:116800]
67354 Q9ULV5 (HSF4) R H 73 - Disease: Cataract 5, multiple types (CTRCT5) [MIM:116800]
67355 Q9ULV5 (HSF4) I V 86 rs121909050 Disease: Cataract 5, multiple types (CTRCT5) [MIM:116800]
67356 Q9ULV5 (HSF4) L P 114 rs121909048 Disease: Cataract 5, multiple types (CTRCT5) [MIM:116800]
67357 Q9ULV5 (HSF4) R C 119 rs28937573 Disease: Cataract 5, multiple types (CTRCT5) [MIM:116800]
67358 Q9ULV8 (CBLC) H Y 405 rs3208856 Benign
67359 Q9ULW8 (PADI3) I V 52 rs3750300 Benign
67360 Q9ULW8 (PADI3) L H 112 rs142129409 Disease: Uncombable hair syndrome 1 (UHS1) [MIM:191480]
67361 Q9ULW8 (PADI3) V M 171 rs2272629 Benign
67362 Q9ULW8 (PADI3) A V 294 rs144080386 Disease: Uncombable hair syndrome 1 (UHS1) [MIM:191480]
67363 Q9ULW8 (PADI3) A T 582 rs34097903 Benign
67364 Q9ULW8 (PADI3) P T 605 rs144944758 Disease: Uncombable hair syndrome 1 (UHS1) [MIM:191480]
67365 Q9ULW8 (PADI3) R Q 618 rs35624745 Benign
67366 Q9ULX3 (NOB1) R Q 231 rs3811348 Benign
67367 Q9ULX3 (NOB1) Y F 366 rs1075935 Benign
67368 Q9ULX6 (AKAP8L) Q H 458 rs2058322 Benign
67369 Q9UM01 (SLC7A7) T I 5 rs386833792 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67370 Q9UM01 (SLC7A7) M K 50 rs386833811 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67371 Q9UM01 (SLC7A7) S L 53 rs386833793 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67372 Q9UM01 (SLC7A7) G V 54 rs121908677 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67373 Q9UM01 (SLC7A7) A V 91 rs11568438 Benign
67374 Q9UM01 (SLC7A7) L P 124 rs386833814 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67375 Q9UM01 (SLC7A7) A P 140 rs386833815 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67376 Q9UM01 (SLC7A7) F L 152 rs386833816 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67377 Q9UM01 (SLC7A7) R C 159 rs11568437 Benign
67378 Q9UM01 (SLC7A7) T I 188 rs386833819 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67379 Q9UM01 (SLC7A7) K E 191 rs386833820 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67380 Q9UM01 (SLC7A7) S F 238 rs386833823 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67381 Q9UM01 (SLC7A7) E D 251 rs386833824 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67382 Q9UM01 (SLC7A7) L P 261 rs386833825 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67383 Q9UM01 (SLC7A7) R M 333 rs386833829 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67384 Q9UM01 (SLC7A7) L R 334 rs72552272 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67385 Q9UM01 (SLC7A7) G D 338 rs386833795 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67386 Q9UM01 (SLC7A7) N Y 365 rs386833797 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67387 Q9UM01 (SLC7A7) S R 386 rs386833799 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67388 Q9UM01 (SLC7A7) S P 489 rs386833810 Disease: Lysinuric protein intolerance (LPI) [MIM:222700]
67389 Q9UM07 (PADI4) R H 8 rs35381732 Benign
67390 Q9UM07 (PADI4) G S 55 rs11203366 Benign
67391 Q9UM07 (PADI4) T M 79 rs35809521 Benign
67392 Q9UM07 (PADI4) V A 82 rs11203367 Benign
67393 Q9UM07 (PADI4) D N 89 rs143187209 Benign
67394 Q9UM07 (PADI4) P T 102 rs34309058 Benign
67395 Q9UM07 (PADI4) G A 112 rs874881 Benign
67396 Q9UM07 (PADI4) R T 131 rs12733102 Benign
67397 Q9UM07 (PADI4) M T 164 rs11588132 Benign
67398 Q9UM07 (PADI4) D N 260 rs35903413 Benign
67399 Q9UM07 (PADI4) S F 275 rs1748020 Benign
67400 Q9UM13 (ANAPC10) R Q 46 rs35257136 Benign
67401 Q9UM44 (HHLA2) I T 30 rs6779254 Benign
67402 Q9UM44 (HHLA2) N K 344 rs3792332 Benign
67403 Q9UM44 (HHLA2) S R 364 rs6779094 Benign
67404 Q9UM47 (NOTCH3) C G 43 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67405 Q9UM47 (NOTCH3) C F 49 rs193921045 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67406 Q9UM47 (NOTCH3) C Y 49 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67407 Q9UM47 (NOTCH3) R C 54 rs1555730189 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67408 Q9UM47 (NOTCH3) S C 60 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67409 Q9UM47 (NOTCH3) C S 65 rs1555730176 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67410 Q9UM47 (NOTCH3) C Y 67 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67411 Q9UM47 (NOTCH3) W C 71 rs28937321 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67412 Q9UM47 (NOTCH3) C R 76 rs1555729610 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67413 Q9UM47 (NOTCH3) C W 76 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67414 Q9UM47 (NOTCH3) C R 87 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67415 Q9UM47 (NOTCH3) C Y 87 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67416 Q9UM47 (NOTCH3) R C 90 rs1555729604 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67417 Q9UM47 (NOTCH3) C F 93 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67418 Q9UM47 (NOTCH3) C Y 93 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67419 Q9UM47 (NOTCH3) C W 106 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67420 Q9UM47 (NOTCH3) C W 108 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67421 Q9UM47 (NOTCH3) C Y 108 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67422 Q9UM47 (NOTCH3) R C 110 rs775836288 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67423 Q9UM47 (NOTCH3) C F 117 rs773539041 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67424 Q9UM47 (NOTCH3) S C 118 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67425 Q9UM47 (NOTCH3) C F 123 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67426 Q9UM47 (NOTCH3) C Y 123 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67427 Q9UM47 (NOTCH3) C Y 128 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67428 Q9UM47 (NOTCH3) R C 133 rs137852642 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67429 Q9UM47 (NOTCH3) C W 134 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67430 Q9UM47 (NOTCH3) R C 141 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67431 Q9UM47 (NOTCH3) F C 142 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67432 Q9UM47 (NOTCH3) C F 144 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67433 Q9UM47 (NOTCH3) C S 144 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67434 Q9UM47 (NOTCH3) C Y 144 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67435 Q9UM47 (NOTCH3) S C 145 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67436 Q9UM47 (NOTCH3) C R 146 rs1555729510 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67437 Q9UM47 (NOTCH3) G C 149 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67438 Q9UM47 (NOTCH3) Y C 150 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67439 Q9UM47 (NOTCH3) R C 153 rs797045014 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67440 Q9UM47 (NOTCH3) C S 155 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67441 Q9UM47 (NOTCH3) C S 162 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67442 Q9UM47 (NOTCH3) R C 169 rs28933696 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67443 Q9UM47 (NOTCH3) H R 170 rs147373451 Benign
67444 Q9UM47 (NOTCH3) G C 171 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67445 Q9UM47 (NOTCH3) C F 174 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67446 Q9UM47 (NOTCH3) C R 174 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67447 Q9UM47 (NOTCH3) C Y 174 rs1555729486 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67448 Q9UM47 (NOTCH3) S C 180 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67449 Q9UM47 (NOTCH3) R C 182 rs28933697 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67450 Q9UM47 (NOTCH3) C F 183 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67451 Q9UM47 (NOTCH3) C R 183 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67452 Q9UM47 (NOTCH3) C S 183 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67453 Q9UM47 (NOTCH3) C G 185 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67454 Q9UM47 (NOTCH3) C R 185 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67455 Q9UM47 (NOTCH3) Y C 189 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67456 Q9UM47 (NOTCH3) C F 194 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67457 Q9UM47 (NOTCH3) C R 194 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67458 Q9UM47 (NOTCH3) C S 194 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67459 Q9UM47 (NOTCH3) C Y 194 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67460 Q9UM47 (NOTCH3) C Y 201 rs1555729468 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67461 Q9UM47 (NOTCH3) C Y 206 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67462 Q9UM47 (NOTCH3) R C 207 rs775267348 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67463 Q9UM47 (NOTCH3) C S 212 rs1555729455 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67464 Q9UM47 (NOTCH3) R K 213 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67465 Q9UM47 (NOTCH3) C G 222 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67466 Q9UM47 (NOTCH3) C Y 222 rs1555729452 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67467 Q9UM47 (NOTCH3) C Y 224 rs1555729451 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67468 Q9UM47 (NOTCH3) C S 233 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67469 Q9UM47 (NOTCH3) C Y 233 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67470 Q9UM47 (NOTCH3) C S 240 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67471 Q9UM47 (NOTCH3) C R 245 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67472 Q9UM47 (NOTCH3) C R 251 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67473 Q9UM47 (NOTCH3) Y C 258 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67474 Q9UM47 (NOTCH3) C Y 260 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67475 Q9UM47 (NOTCH3) A C 319 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67476 Q9UM47 (NOTCH3) R C 332 rs137852641 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67477 Q9UM47 (NOTCH3) S C 335 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67478 Q9UM47 (NOTCH3) Y C 337 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67479 Q9UM47 (NOTCH3) C S 379 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67480 Q9UM47 (NOTCH3) C R 395 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67481 Q9UM47 (NOTCH3) G C 420 rs1323608032 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67482 Q9UM47 (NOTCH3) R C 421 rs1555729068 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67483 Q9UM47 (NOTCH3) C S 428 rs267606915 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67484 Q9UM47 (NOTCH3) C Y 428 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67485 Q9UM47 (NOTCH3) C G 440 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67486 Q9UM47 (NOTCH3) C R 440 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67487 Q9UM47 (NOTCH3) C S 446 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67488 Q9UM47 (NOTCH3) R C 449 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67489 Q9UM47 (NOTCH3) C R 455 rs28933698 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67490 Q9UM47 (NOTCH3) C F 484 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67491 Q9UM47 (NOTCH3) C Y 484 rs1313319587 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67492 Q9UM47 (NOTCH3) C Y 495 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67493 Q9UM47 (NOTCH3) P L 496 rs11670799 Benign
67494 Q9UM47 (NOTCH3) C R 511 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67495 Q9UM47 (NOTCH3) C Y 542 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67496 Q9UM47 (NOTCH3) R C 544 rs201118034 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67497 Q9UM47 (NOTCH3) C Y 549 rs1555728814 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67498 Q9UM47 (NOTCH3) R C 558 rs75068032 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67499 Q9UM47 (NOTCH3) R C 578 rs769773673 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67500 Q9UM47 (NOTCH3) R C 607 rs777751303 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67501 Q9UM47 (NOTCH3) Y C 710 rs1328784046 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67502 Q9UM47 (NOTCH3) R C 728 rs1057519101 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67503 Q9UM47 (NOTCH3) C S 775 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67504 Q9UM47 (NOTCH3) G C 953 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67505 Q9UM47 (NOTCH3) F C 984 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67506 Q9UM47 (NOTCH3) R C 985 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67507 Q9UM47 (NOTCH3) R C 1006 rs1555727942 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67508 Q9UM47 (NOTCH3) C R 1015 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67509 Q9UM47 (NOTCH3) A P 1020 rs35769976 Benign
67510 Q9UM47 (NOTCH3) Y C 1021 rs1167405466 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67511 Q9UM47 (NOTCH3) R C 1031 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67512 Q9UM47 (NOTCH3) D C 1063 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67513 Q9UM47 (NOTCH3) H Q 1133 rs112197217 Benign
67514 Q9UM47 (NOTCH3) V M 1183 rs10408676 Benign
67515 Q9UM47 (NOTCH3) R C 1231 rs201680145 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67516 Q9UM47 (NOTCH3) C R 1261 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67517 Q9UM47 (NOTCH3) C Y 1261 rs1209610920 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 1 (CADASIL1) [MIM:125310]
67518 Q9UM47 (NOTCH3) L P 1519 rs367543285 Disease: Myofibromato sis, infantile 2 (IMF2) [MIM:615293]
67519 Q9UM47 (NOTCH3) A V 2223 rs1044009 Benign
67520 Q9UM54 (MYO6) E V 216 rs121912559 Disease: Deafness, autosomal recessive, 37 (DFNB37) [MIM:607821]
67521 Q9UM54 (MYO6) H R 246 rs121912560 Disease: Deafness, autosomal dominant 22, with hypertrophic cardiomyopat hy (DFNHCM) [MIM:606346]
67522 Q9UM54 (MYO6) C Y 442 - Disease: Deafness, autosomal dominant, 22 (DFNA22) [MIM:606346]
67523 Q9UM63 (PLAGL1) A V 272 rs35263016 Benign
67524 Q9UM73 (ALK) S L 90 rs34617074 Benign
67525 Q9UM73 (ALK) V L 163 rs55697431 Benign
67526 Q9UM73 (ALK) E Q 296 rs56077855 Benign
67527 Q9UM73 (ALK) V A 476 rs35093491 Benign
67528 Q9UM73 (ALK) T I 680 rs35228363 Benign
67529 Q9UM73 (ALK) A T 704 rs34829159 Benign
67530 Q9UM73 (ALK) L Q 868 rs55941323 Benign
67531 Q9UM73 (ALK) T M 1012 rs35073634 Benign
67532 Q9UM73 (ALK) D N 1091 rs864309584 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67533 Q9UM73 (ALK) G D 1121 rs55760835 Benign
67534 Q9UM73 (ALK) G A 1128 rs113994088 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67535 Q9UM73 (ALK) T M 1151 rs113994091 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67536 Q9UM73 (ALK) M R 1166 rs1057520019 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67537 Q9UM73 (ALK) I N 1171 rs1057519698 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67538 Q9UM73 (ALK) F C 1174 rs1057519697 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67539 Q9UM73 (ALK) F I 1174 rs281864719 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67540 Q9UM73 (ALK) F L 1174 rs863225281 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67541 Q9UM73 (ALK) F V 1174 rs281864719 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67542 Q9UM73 (ALK) R P 1192 rs113994089 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67543 Q9UM73 (ALK) A T 1234 - Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67544 Q9UM73 (ALK) F C 1245 rs863225283 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67545 Q9UM73 (ALK) F V 1245 rs281864720 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67546 Q9UM73 (ALK) I T 1250 rs113994092 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67547 Q9UM73 (ALK) A T 1274 rs45502292 Benign
67548 Q9UM73 (ALK) R L 1275 rs113994087 Benign
67549 Q9UM73 (ALK) R Q 1275 rs113994087 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67550 Q9UM73 (ALK) Y S 1278 rs863225285 Disease: Neuroblastom a 3 (NBLST3) [MIM:613014]
67551 Q9UM73 (ALK) M L 1328 rs56160491 Benign
67552 Q9UM73 (ALK) F S 1376 rs17694720 Benign
67553 Q9UM73 (ALK) K N 1416 rs55782189 Benign
67554 Q9UM73 (ALK) E K 1419 rs56181542 Benign
67555 Q9UM73 (ALK) Q R 1429 rs55906201 Benign
67556 Q9UM73 (ALK) I V 1461 rs1670283 Benign
67557 Q9UM73 (ALK) K R 1491 rs1881420 Benign
67558 Q9UM73 (ALK) D E 1529 rs1881421 Benign
67559 Q9UM73 (ALK) P H 1599 rs1881423 Benign
67560 Q9UM82 (SPATA2) L F 443 rs2072985 Benign
67561 Q9UMD9 (COL17A1) T A 4 rs17116471 Benign
67562 Q9UMD9 (COL17A1) T M 210 rs805708 Benign
67563 Q9UMD9 (COL17A1) M I 231 rs1054113 Benign
67564 Q9UMD9 (COL17A1) M T 238 - Benign
67565 Q9UMD9 (COL17A1) S C 265 - Disease: Generalized atrophic benign epidermolysi s bullosa (GABEB) [MIM:226650]
67566 Q9UMD9 (COL17A1) G S 428 rs805698 Benign
67567 Q9UMD9 (COL17A1) G V 627 - Disease: Generalized atrophic benign epidermolysi s bullosa (GABEB) [MIM:226650]
67568 Q9UMD9 (COL17A1) G D 633 rs121912773 Disease: Generalized atrophic benign epidermolysi s bullosa (GABEB) [MIM:226650]
67569 Q9UMD9 (COL17A1) M V 703 rs805722 Benign
67570 Q9UMD9 (COL17A1) T I 939 rs797045142 Disease: Epithelial recurrent erosion dystrophy (ERED) [MIM:122400]
67571 Q9UMD9 (COL17A1) R Q 1303 rs121912771 Disease: Generalized atrophic benign epidermolysi s bullosa (GABEB) [MIM:226650]
67572 Q9UMD9 (COL17A1) D G 1370 rs17116350 Benign
67573 Q9UMF0 (ICAM5) V I 301 rs1056538 Benign
67574 Q9UMF0 (ICAM5) A T 348 rs2228615 Benign
67575 Q9UMN6 (KMT2B) T I 172 rs60207923 Benign
67576 Q9UMN6 (KMT2B) T N 215 - Benign
67577 Q9UMN6 (KMT2B) P R 587 rs2242519 Benign
67578 Q9UMN6 (KMT2B) P L 754 rs179686 Benign
67579 Q9UMN6 (KMT2B) P L 1097 rs34014681 Benign
67580 Q9UMN6 (KMT2B) P L 1829 rs16970649 Benign
67581 Q9UMN6 (KMT2B) D G 2364 rs231591 Benign
67582 Q9UMN6 (KMT2B) K N 2408 rs36062432 Benign
67583 Q9UMQ6 (CAPN11) V M 266 rs6938938 Benign
67584 Q9UMQ6 (CAPN11) V A 441 rs16871612 Benign
67585 Q9UMQ6 (CAPN11) I V 521 rs34710081 Benign
67586 Q9UMQ6 (CAPN11) S R 544 rs35527493 Benign
67587 Q9UMQ6 (CAPN11) S N 728 rs7761137 Benign
67588 Q9UMR2 (DDX19B) V L 149 rs34607244 Benign
67589 Q9UMR3 (TBX20) I M 121 rs267607106 Disease: Atrial septal defect 4 (ASD4) [MIM:611363]
67590 Q9UMR3 (TBX20) I M 152 rs137852954 Disease: Atrial septal defect 4 (ASD4) [MIM:611363]
67591 Q9UMR5 (PPT2) C W 5 rs3134604 Benign
67592 Q9UMR5 (PPT2) A E 34 rs3096696 Benign
67593 Q9UMR7 (CLEC4A) H L 36 rs2024301 Benign
67594 Q9UMS0 (NFU1) R P 21 rs776875884 Disease: Multiple mitochondria l dysfunctions syndrome 1 (MMDS1) [MIM:605711]
67595 Q9UMS0 (NFU1) M K 25 rs4453725 Benign
67596 Q9UMS0 (NFU1) R W 182 rs1354126704 Disease: Multiple mitochondria l dysfunctions syndrome 1 (MMDS1) [MIM:605711]
67597 Q9UMS0 (NFU1) G R 189 - Disease: Multiple mitochondria l dysfunctions syndrome 1 (MMDS1) [MIM:605711]
67598 Q9UMS0 (NFU1) G C 208 rs374514431 Disease: Multiple mitochondria l dysfunctions syndrome 1 (MMDS1) [MIM:605711]
67599 Q9UMS6 (SYNPO2) G A 154 rs12645298 Benign
67600 Q9UMS6 (SYNPO2) Q H 174 rs17263971 Benign
67601 Q9UMS6 (SYNPO2) A T 179 rs17050152 Benign
67602 Q9UMS6 (SYNPO2) T A 573 rs7698598 Benign
67603 Q9UMW8 (USP18) T M 169 rs3180408 Benign
67604 Q9UMX1 (SUFU) P L 15 rs28942088 Benign
67605 Q9UMX1 (SUFU) G V 19 - Benign
67606 Q9UMX1 (SUFU) I V 37 rs745793517 Benign
67607 Q9UMX1 (SUFU) V M 77 - Benign
67608 Q9UMX1 (SUFU) H R 176 rs1554852272 Disease: Joubert syndrome 32 (JBTS32) [MIM:617757]
67609 Q9UMX1 (SUFU) R Q 289 rs149016373 Benign
67610 Q9UMX1 (SUFU) I V 293 rs574002050 Benign
67611 Q9UMX1 (SUFU) A S 340 rs34135067 Benign
67612 Q9UMX1 (SUFU) P L 382 rs1401882800 Benign
67613 Q9UMX1 (SUFU) I T 406 rs1554854758 Disease: Joubert syndrome 32 (JBTS32) [MIM:617757]
67614 Q9UMX1 (SUFU) K R 442 rs772598739 Benign
67615 Q9UMX1 (SUFU) S N 481 - Benign
67616 Q9UMX6 (GUCA1B) E D 155 rs139923590 Benign
67617 Q9UMX6 (GUCA1B) G R 157 rs121909124 Disease: Retinitis pigmentosa 48 (RP48) [MIM:613827]
67618 Q9UMX9 (SLC45A2) M I 42 - Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67619 Q9UMX9 (SLC45A2) P A 58 rs1290584600 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67620 Q9UMX9 (SLC45A2) P S 58 - Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67621 Q9UMX9 (SLC45A2) L R 60 rs925113610 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67622 Q9UMX9 (SLC45A2) G S 64 - Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67623 Q9UMX9 (SLC45A2) G R 110 rs762813061 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67624 Q9UMX9 (SLC45A2) L P 151 - Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67625 Q9UMX9 (SLC45A2) D N 157 rs121912621 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67626 Q9UMX9 (SLC45A2) D H 160 rs760780597 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67627 Q9UMX9 (SLC45A2) G V 188 - Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67628 Q9UMX9 (SLC45A2) W C 202 rs146802593 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67629 Q9UMX9 (SLC45A2) H Q 233 - Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67630 Q9UMX9 (SLC45A2) E K 272 rs26722 Benign
67631 Q9UMX9 (SLC45A2) T S 302 rs553073635 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67632 Q9UMX9 (SLC45A2) Y C 317 - Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67633 Q9UMX9 (SLC45A2) R C 348 rs372465070 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67634 Q9UMX9 (SLC45A2) G R 349 rs146930801 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67635 Q9UMX9 (SLC45A2) L P 361 rs121912619 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67636 Q9UMX9 (SLC45A2) E K 368 rs1307137184 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67637 Q9UMX9 (SLC45A2) L F 374 rs16891982 Benign
67638 Q9UMX9 (SLC45A2) F L 418 rs144503724 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67639 Q9UMX9 (SLC45A2) A T 477 rs1352999116 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67640 Q9UMX9 (SLC45A2) A V 486 rs121912620 Disease: Albinism, oculocutaneo us, 4 (OCA4) [MIM:606574]
67641 Q9UMX9 (SLC45A2) T P 500 rs11568737 Benign
67642 Q9UMX9 (SLC45A2) V L 507 rs3733808 Benign
67643 Q9UMZ2 (SYNRG) A G 40 rs12944821 Benign
67644 Q9UMZ2 (SYNRG) T A 222 rs12602536 Benign
67645 Q9UMZ3 (PTPRQ) R G 281 - Disease: Deafness, autosomal recessive, 84A (DFNB84A) [MIM:613391]
67646 Q9UMZ3 (PTPRQ) Q E 471 rs61729287 Benign
67647 Q9UMZ3 (PTPRQ) T I 1040 rs12316867 Benign
67648 Q9UMZ3 (PTPRQ) F L 1098 rs6539524 Benign
67649 Q9UMZ3 (PTPRQ) A P 1120 rs7975340 Benign
67650 Q9UMZ3 (PTPRQ) N D 1244 rs17713202 Benign
67651 Q9UMZ3 (PTPRQ) I T 1734 rs7963963 Benign
67652 Q9UMZ3 (PTPRQ) R K 2121 rs1163042 Benign
67653 Q9UN36 (NDRG2) T S 45 rs36007455 Benign
67654 Q9UN36 (NDRG2) G V 48 rs11552412 Benign
67655 Q9UN42 (ATP1B4) V A 48 rs2072452 Benign
67656 Q9UN66 (PCDHB8) K N 199 rs2950845 Benign
67657 Q9UN66 (PCDHB8) E G 232 rs17096954 Benign
67658 Q9UN66 (PCDHB8) E Q 244 rs2950844 Benign
67659 Q9UN66 (PCDHB8) K E 305 rs3733694 Benign
67660 Q9UN66 (PCDHB8) A V 322 rs7700833 Benign
67661 Q9UN66 (PCDHB8) I T 382 rs3733693 Benign
67662 Q9UN66 (PCDHB8) Q H 639 rs2740582 Benign
67663 Q9UN66 (PCDHB8) V L 661 rs2697541 Benign
67664 Q9UN66 (PCDHB8) S N 745 rs17096961 Benign
67665 Q9UN66 (PCDHB8) G V 759 rs35245446 Benign
67666 Q9UN66 (PCDHB8) L F 767 rs2740583 Benign
67667 Q9UN72 (PCDHA7) R K 138 rs10067182 Benign
67668 Q9UN72 (PCDHA7) A G 663 rs6880234 Benign
67669 Q9UN73 (PCDHA6) L V 585 rs60309716 Benign
67670 Q9UN74 (PCDHA4) E D 55 rs11167605 Benign
67671 Q9UN74 (PCDHA4) P S 184 rs3822346 Benign
67672 Q9UN79 (SOX13) P S 532 rs34758764 Benign
67673 Q9UN88 (GABRQ) L I 15 rs4996045 Benign
67674 Q9UN88 (GABRQ) F I 478 rs3810651 Benign
67675 Q9UNA0 (ADAMTS5) G A 138 rs457947 Benign
67676 Q9UNA0 (ADAMTS5) R H 614 rs2830585 Benign
67677 Q9UNA0 (ADAMTS5) L P 692 rs226794 Benign
67678 Q9UNA1 (ARHGAP26) N S 417 rs121918546 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
67679 Q9UNA3 (A4GNT) A D 218 rs2246945 Benign
67680 Q9UNA4 (POLI) R G 96 rs3218778 Benign
67681 Q9UNA4 (POLI) I M 261 rs3218784 Benign
67682 Q9UNA4 (POLI) E K 276 rs3218783 Benign
67683 Q9UNA4 (POLI) H R 474 rs3730823 Benign
67684 Q9UNA4 (POLI) F S 532 rs3218786 Benign
67685 Q9UNA4 (POLI) C R 560 rs3218787 Benign
67686 Q9UNA4 (POLI) A T 731 rs8305 Benign
67687 Q9UND3 (NPIPA1) R C 93 rs1136474 Benign
67688 Q9UNE0 (EDAR) C Y 47 rs778903951 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67689 Q9UNE0 (EDAR) C R 87 rs121908451 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67690 Q9UNE0 (EDAR) R H 89 rs121908450 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67691 Q9UNE0 (EDAR) R Q 98 rs144473052 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67692 Q9UNE0 (EDAR) D A 110 rs121908455 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67693 Q9UNE0 (EDAR) C R 148 - Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67694 Q9UNE0 (EDAR) R Q 358 rs886039564 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67695 Q9UNE0 (EDAR) V A 370 rs3827760 Benign
67696 Q9UNE0 (EDAR) V L 370 rs1267372612 Benign
67697 Q9UNE0 (EDAR) R H 375 rs121908454 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67698 Q9UNE0 (EDAR) L F 377 - Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67699 Q9UNE0 (EDAR) G S 382 rs747806672 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67700 Q9UNE0 (EDAR) T M 403 - Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67701 Q9UNE0 (EDAR) I F 408 - Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67702 Q9UNE0 (EDAR) T P 413 - Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67703 Q9UNE0 (EDAR) I T 418 - Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67704 Q9UNE0 (EDAR) R Q 420 rs121908453 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67705 Q9UNE0 (EDAR) W C 434 rs528478080 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67706 Q9UNE0 (EDAR) W R 434 rs773885029 Disease: Ectodermal dysplasia 10B, hypohidrotic /hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
67707 Q9UNE7 (STUB1) E K 28 - Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67708 Q9UNE7 (STUB1) N S 65 rs690016544 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67709 Q9UNE7 (STUB1) A D 79 rs587777347 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67710 Q9UNE7 (STUB1) A T 79 rs587777346 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67711 Q9UNE7 (STUB1) L V 123 rs587777344 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67712 Q9UNE7 (STUB1) N I 130 rs587777341 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67713 Q9UNE7 (STUB1) K Q 145 rs146251364 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67714 Q9UNE7 (STUB1) W C 147 rs587777342 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67715 Q9UNE7 (STUB1) L F 165 rs587777340 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67716 Q9UNE7 (STUB1) S T 236 - Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67717 Q9UNE7 (STUB1) M T 240 rs587777345 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67718 Q9UNE7 (STUB1) T M 246 rs587777343 Disease: Spinocerebel lar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
67719 Q9UNF0 (PACSIN2) N S 175 rs35383004 Benign
67720 Q9UNF0 (PACSIN2) M I 294 rs2746984 Benign
67721 Q9UNF0 (PACSIN2) V F 324 rs1062913 Benign
67722 Q9UNF1 (MAGED2) E D 187 rs12014977 Benign
67723 Q9UNF1 (MAGED2) Q R 266 rs1021000890 Benign
67724 Q9UNF1 (MAGED2) R C 446 rs878854407 Disease: Bartter syndrome 5, antenatal, transient (BARTS5) [MIM:300971]
67725 Q9UNH5 (CDC14A) R G 312 - Disease: Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653]
67726 Q9UNH5 (CDC14A) R Q 312 rs369245990 Disease: Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653]
67727 Q9UNH5 (CDC14A) Q P 320 rs1339709390 Disease: Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653]
67728 Q9UNH5 (CDC14A) R Q 345 rs28364897 Benign
67729 Q9UNH5 (CDC14A) S F 589 rs28364923 Benign
67730 Q9UNH6 (SNX7) F L 186 rs35391040 Benign
67731 Q9UNH6 (SNX7) S N 278 rs12033678 Benign
67732 Q9UNI1 (CELA1) Q H 10 rs17860287 Benign
67733 Q9UNI1 (CELA1) R W 44 rs17860299 Benign
67734 Q9UNI1 (CELA1) M V 59 rs17860300 Benign
67735 Q9UNI1 (CELA1) Q R 243 rs17860364 Benign
67736 Q9UNI6 (DUSP12) A E 51 rs35106830 Benign
67737 Q9UNK4 (PLA2G2D) Q H 65 rs62541890 Benign
67738 Q9UNK4 (PLA2G2D) H R 73 rs62541891 Benign
67739 Q9UNK4 (PLA2G2D) S G 80 rs584367 Benign
67740 Q9UNK4 (PLA2G2D) H R 96 rs62541892 Benign
67741 Q9UNK4 (PLA2G2D) R C 121 rs62541900 Benign
67742 Q9UNK4 (PLA2G2D) R L 121 rs62541901 Benign
67743 Q9UNK9 (ANGEL1) G W 141 rs34270005 Benign
67744 Q9UNK9 (ANGEL1) V L 383 rs45499197 Benign
67745 Q9UNK9 (ANGEL1) F C 515 rs2075773 Benign
67746 Q9UNM6 (PSMD13) N S 13 rs1045288 Benign
67747 Q9UNM6 (PSMD13) S L 150 rs28927679 Benign
67748 Q9UNM6 (PSMD13) G E 204 rs1794108 Benign
67749 Q9UNM6 (PSMD13) L F 205 rs1794109 Benign
67750 Q9UNN8 (PROCR) S G 219 rs867186 Benign
67751 Q9UNP4 (ST3GAL5) H R 104 rs1138484 Benign
67752 Q9UNQ0 (ABCG2) V M 12 rs2231137 Benign
67753 Q9UNQ0 (ABCG2) S L 13 rs1319203095 Benign
67754 Q9UNQ0 (ABCG2) Q K 141 rs2231142 Benign
67755 Q9UNQ0 (ABCG2) R W 147 rs372192400 Benign
67756 Q9UNQ0 (ABCG2) T M 153 rs753759474 Benign
67757 Q9UNQ0 (ABCG2) R Q 160 rs528655917 Benign
67758 Q9UNQ0 (ABCG2) Q E 166 rs1061017 Benign
67759 Q9UNQ0 (ABCG2) I L 206 rs12721643 Benign
67760 Q9UNQ0 (ABCG2) F S 208 rs1061018 Benign
67761 Q9UNQ0 (ABCG2) S P 248 rs3116448 Benign
67762 Q9UNQ0 (ABCG2) D H 296 rs41282401 Benign
67763 Q9UNQ0 (ABCG2) T P 316 - Benign
67764 Q9UNQ0 (ABCG2) G R 354 rs138606116 Benign
67765 Q9UNQ0 (ABCG2) F C 373 rs752626614 Benign
67766 Q9UNQ0 (ABCG2) T A 421 rs199854112 Benign
67767 Q9UNQ0 (ABCG2) F L 431 - Benign
67768 Q9UNQ0 (ABCG2) T M 434 rs769734146 Benign
67769 Q9UNQ0 (ABCG2) S N 441 rs1354553769 Benign
67770 Q9UNQ0 (ABCG2) S P 476 rs1274428653 Benign
67771 Q9UNQ0 (ABCG2) F L 489 rs192169063 Benign
67772 Q9UNQ0 (ABCG2) A T 528 rs45605536 Benign
67773 Q9UNQ0 (ABCG2) F I 571 rs9282571 Benign
67774 Q9UNQ0 (ABCG2) S R 572 rs200894058 Benign
67775 Q9UNQ0 (ABCG2) N Y 590 rs34264773 Benign
67776 Q9UNQ0 (ABCG2) D N 620 rs34783571 Benign
67777 Q9UNS1 (TIMELESS) A S 129 rs72478986 Benign
67778 Q9UNS1 (TIMELESS) I L 455 rs774027 Benign
67779 Q9UNS1 (TIMELESS) N S 471 rs72478993 Benign
67780 Q9UNS1 (TIMELESS) R Q 831 rs774047 Benign
67781 Q9UNS1 (TIMELESS) M V 870 rs61733875 Benign
67782 Q9UNS1 (TIMELESS) R H 922 rs72478999 Benign
67783 Q9UNS1 (TIMELESS) R W 924 rs72479000 Benign
67784 Q9UNS1 (TIMELESS) I T 1017 rs61376834 Benign
67785 Q9UNS1 (TIMELESS) P L 1018 rs2291739 Benign
67786 Q9UNU6 (CYP8B1) S P 88 rs9865715 Benign
67787 Q9UNU6 (CYP8B1) R H 234 rs199955644 Benign
67788 Q9UNU6 (CYP8B1) K R 238 rs35764459 Benign
67789 Q9UNU6 (CYP8B1) L F 357 rs35637877 Benign
67790 Q9UNW1 (MINPP1) S L 41 rs119486096 Disease: Thyroid cancer, non- medullary, 2 (NMTC2) [MIM:188470]
67791 Q9UNW1 (MINPP1) Q R 270 rs104894171 Disease: Thyroid cancer, non- medullary, 2 (NMTC2) [MIM:188470]
67792 Q9UNX4 (WDR3) P A 234 rs3738420 Benign
67793 Q9UNX9 (KCNJ14) R C 289 rs3745725 Benign
67794 Q9UNY4 (TTF2) K E 167 rs998532 Benign
67795 Q9UNY4 (TTF2) K R 213 rs7535524 Benign
67796 Q9UNY4 (TTF2) E G 256 rs34334470 Benign
67797 Q9UNY4 (TTF2) K R 1134 rs41276572 Benign
67798 Q9UNY4 (TTF2) D H 1155 rs34236116 Benign
67799 Q9UNZ2 (NSFL1C) D N 290 rs9575 Benign
67800 Q9UNZ5 (C19orf53) K R 39 rs10104 Benign
67801 Q9UP38 (FZD1) V M 343 rs3750146 Benign
67802 Q9UP52 (TFR2) V I 22 rs80338876 Disease: Hemochromato sis 3 (HFE3) [MIM:604250]
67803 Q9UP52 (TFR2) M K 172 rs80338879 Disease: Hemochromato sis 3 (HFE3) [MIM:604250]
67804 Q9UP52 (TFR2) D E 230 rs41303465 Benign
67805 Q9UP52 (TFR2) I M 238 rs34242818 Benign
67806 Q9UP52 (TFR2) R Q 455 rs41303501 Benign
67807 Q9UP52 (TFR2) Q P 690 rs80338889 Disease: Hemochromato sis 3 (HFE3) [MIM:604250]
67808 Q9UP52 (TFR2) R H 752 rs41295942 Benign
67809 Q9UP65 (PLA2G4C) E K 21 rs11564522 Benign
67810 Q9UP65 (PLA2G4C) A P 38 rs2307279 Benign
67811 Q9UP65 (PLA2G4C) A V 127 rs11564532 Benign
67812 Q9UP65 (PLA2G4C) V F 142 rs11564534 Benign
67813 Q9UP65 (PLA2G4C) I V 143 rs2303744 Benign
67814 Q9UP65 (PLA2G4C) R G 148 rs2307282 Benign
67815 Q9UP65 (PLA2G4C) P L 151 rs11564538 Benign
67816 Q9UP65 (PLA2G4C) S P 203 rs156631 Benign
67817 Q9UP65 (PLA2G4C) T S 226 rs11564541 Benign
67818 Q9UP65 (PLA2G4C) T P 360 rs11564620 Benign
67819 Q9UP65 (PLA2G4C) D N 411 rs11564638 Benign
67820 Q9UP65 (PLA2G4C) R C 430 rs191276960 Benign
67821 Q9UP83 (COG5) F L 330 rs2269970 Benign
67822 Q9UP83 (COG5) I V 365 rs34087251 Benign
67823 Q9UP83 (COG5) H R 452 rs35393416 Benign
67824 Q9UP83 (COG5) S P 558 - Benign
67825 Q9UPA5 (BSN) A T 741 rs34762726 Benign
67826 Q9UPA5 (BSN) G D 1213 rs35762866 Benign
67827 Q9UPA5 (BSN) A T 3863 rs2005557 Benign
67828 Q9UPE1 (SRPK3) R C 101 rs55910507 Benign
67829 Q9UPE1 (SRPK3) G E 114 rs35865042 Benign
67830 Q9UPE1 (SRPK3) E K 233 rs34497419 Benign
67831 Q9UPI3 (FLVCR2) V A 16 rs2287015 Benign
67832 Q9UPI3 (FLVCR2) R H 84 - Disease: Proliferativ e vasculopathy and hydranenceph aly- hydrocephaly syndrome (PVHH) [MIM:225790]
67833 Q9UPI3 (FLVCR2) P R 280 rs267606823 Disease: Proliferativ e vasculopathy and hydranenceph aly- hydrocephaly syndrome (PVHH) [MIM:225790]
67834 Q9UPI3 (FLVCR2) A V 326 rs267606824 Disease: Proliferativ e vasculopathy and hydranenceph aly- hydrocephaly syndrome (PVHH) [MIM:225790]
67835 Q9UPI3 (FLVCR2) T R 352 - Disease: Proliferativ e vasculopathy and hydranenceph aly- hydrocephaly syndrome (PVHH) [MIM:225790]
67836 Q9UPI3 (FLVCR2) L V 398 rs267606822 Disease: Proliferativ e vasculopathy and hydranenceph aly- hydrocephaly syndrome (PVHH) [MIM:225790]
67837 Q9UPI3 (FLVCR2) G R 412 - Disease: Proliferativ e vasculopathy and hydranenceph aly- hydrocephaly syndrome (PVHH) [MIM:225790]
67838 Q9UPI3 (FLVCR2) T M 430 rs267606825 Disease: Proliferativ e vasculopathy and hydranenceph aly- hydrocephaly syndrome (PVHH) [MIM:225790]
67839 Q9UPI3 (FLVCR2) T R 430 rs267606825 Disease: Proliferativ e vasculopathy and hydranenceph aly- hydrocephaly syndrome (PVHH) [MIM:225790]
67840 Q9UPI3 (FLVCR2) A T 481 rs35126362 Benign
67841 Q9UPM8 (AP4E1) I T 85 rs147005786 Benign
67842 Q9UPM8 (AP4E1) T S 145 rs200034177 Benign
67843 Q9UPM8 (AP4E1) C R 163 rs2306331 Benign
67844 Q9UPM8 (AP4E1) R Q 211 rs750328226 Benign
67845 Q9UPM8 (AP4E1) N S 264 rs145541719 Benign
67846 Q9UPM8 (AP4E1) I L 426 rs148817957 Benign
67847 Q9UPM8 (AP4E1) V I 517 rs760021635 Disease: Stuttering, familial persistent 1 (STUT1) [MIM:184450]
67848 Q9UPM8 (AP4E1) V I 618 rs142215198 Benign
67849 Q9UPM8 (AP4E1) I K 706 rs865868636 Benign
67850 Q9UPM8 (AP4E1) E K 801 rs556450190 Disease: Stuttering, familial persistent 1 (STUT1) [MIM:184450]
67851 Q9UPM8 (AP4E1) M V 813 rs779094838 Benign
67852 Q9UPM9 (B9D1) Y C 32 rs771170000 Disease: Joubert syndrome 27 (JBTS27) [MIM:617120]
67853 Q9UPM9 (B9D1) S P 51 rs546359789 Benign
67854 Q9UPM9 (B9D1) R W 61 rs73980038 Benign
67855 Q9UPM9 (B9D1) R Q 156 rs886038205 Disease: Joubert syndrome 27 (JBTS27) [MIM:617120]
67856 Q9UPN3 (MACF1) M V 4357 rs2296172 Benign
67857 Q9UPN3 (MACF1) K R 6201 rs682351 Benign
67858 Q9UPN3 (MACF1) A T 6308 rs587404 Benign
67859 Q9UPN3 (MACF1) S T 6628 rs668556 Benign
67860 Q9UPN3 (MACF1) T I 6752 rs2296174 Benign
67861 Q9UPN3 (MACF1) I V 6855 rs12068423 Benign
67862 Q9UPN3 (MACF1) C F 7135 - Disease: Lissencephal y 9 with complex brainstem malformation (LIS9) [MIM:618325]
67863 Q9UPN3 (MACF1) D Y 7186 - Disease: Lissencephal y 9 with complex brainstem malformation (LIS9) [MIM:618325]
67864 Q9UPN3 (MACF1) C F 7188 - Disease: Lissencephal y 9 with complex brainstem malformation (LIS9) [MIM:618325]
67865 Q9UPN3 (MACF1) C G 7188 - Disease: Lissencephal y 9 with complex brainstem malformation (LIS9) [MIM:618325]
67866 Q9UPN4 (CEP131) V I 43 rs8067409 Benign
67867 Q9UPN4 (CEP131) I V 70 rs752612451 Benign
67868 Q9UPN4 (CEP131) T A 272 rs2466773 Benign
67869 Q9UPN4 (CEP131) T A 397 rs2659015 Benign
67870 Q9UPN4 (CEP131) V A 473 rs2659016 Benign
67871 Q9UPN6 (SCAF8) S N 865 rs34802160 Benign
67872 Q9UPN9 (TRIM33) V A 67 rs6691166 Benign
67873 Q9UPN9 (TRIM33) L S 696 rs56151583 Benign
67874 Q9UPN9 (TRIM33) I T 840 rs6537825 Benign
67875 Q9UPN9 (TRIM33) V M 961 rs55688622 Benign
67876 Q9UPN9 (TRIM33) P T 1090 rs55784699 Benign
67877 Q9UPP1 (PHF8) F S 315 rs121918524 Disease: Mental retardation, X-linked, syndromic, Siderius type (MRXSSD) [MIM:300263]
67878 Q9UPP2 (IQSEC3) A G 558 rs56204927 Benign
67879 Q9UPP5 (KIAA1107) H R 292 rs2128647 Benign
67880 Q9UPP5 (KIAA1107) S I 312 rs12084085 Benign
67881 Q9UPP5 (KIAA1107) V L 392 rs7552286 Benign
67882 Q9UPP5 (KIAA1107) Q R 472 rs11166332 Benign
67883 Q9UPP5 (KIAA1107) D G 551 rs7523466 Benign
67884 Q9UPP5 (KIAA1107) N Y 585 rs7523552 Benign
67885 Q9UPP5 (KIAA1107) K E 696 rs3738439 Benign
67886 Q9UPP5 (KIAA1107) N S 815 rs560389 Benign
67887 Q9UPP5 (KIAA1107) T N 918 rs565156 Benign
67888 Q9UPP5 (KIAA1107) F V 953 rs17578364 Benign
67889 Q9UPP5 (KIAA1107) V I 1028 rs566576 Benign
67890 Q9UPQ0 (LIMCH1) M T 759 rs11734372 Benign
67891 Q9UPQ3 (AGAP1) D G 148 rs17855721 Benign
67892 Q9UPQ3 (AGAP1) V I 671 rs2034648 Benign
67893 Q9UPQ3 (AGAP1) R G 798 rs762355360 Benign
67894 Q9UPQ3 (AGAP1) E K 829 rs15718 Benign
67895 Q9UPQ3 (AGAP1) P T 854 rs368301945 Benign
67896 Q9UPQ7 (PDZRN3) A V 783 rs3205537 Benign
67897 Q9UPQ8 (DOLK) C S 99 rs137853109 Disease: Congenital disorder of glycosylatio n 1M (CDG1M) [MIM:610768]
67898 Q9UPQ8 (DOLK) D V 224 rs17485436 Benign
67899 Q9UPQ8 (DOLK) Y S 441 rs137853110 Disease: Congenital disorder of glycosylatio n 1M (CDG1M) [MIM:610768]
67900 Q9UPQ9 (TNRC6B) S C 517 rs17001767 Benign
67901 Q9UPR0 (PLCL2) Q R 211 rs17853614 Benign
67902 Q9UPR0 (PLCL2) V M 635 rs17857109 Benign
67903 Q9UPR0 (PLCL2) A V 742 rs17857110 Benign
67904 Q9UPR0 (PLCL2) P H 809 rs17853612 Benign
67905 Q9UPR0 (PLCL2) H R 890 rs17853613 Benign
67906 Q9UPR3 (SMG5) N D 1004 rs17853821 Benign
67907 Q9UPR5 (SLC8A2) V L 429 rs17759929 Benign
67908 Q9UPR6 (ZFR2) S L 164 rs2240235 Benign
67909 Q9UPR6 (ZFR2) V M 183 rs2240234 Benign
67910 Q9UPR6 (ZFR2) V L 210 rs2240233 Benign
67911 Q9UPR6 (ZFR2) P L 235 rs2240232 Benign
67912 Q9UPR6 (ZFR2) A T 577 rs2301843 Benign
67913 Q9UPR6 (ZFR2) D N 589 rs2301839 Benign
67914 Q9UPR6 (ZFR2) I M 718 rs45465594 Benign
67915 Q9UPS8 (ANKRD26) Q R 20 rs7897309 Benign
67916 Q9UPS8 (ANKRD26) I V 425 rs12359281 Benign
67917 Q9UPS8 (ANKRD26) V L 1220 rs12572862 Benign
67918 Q9UPS8 (ANKRD26) V I 1305 rs10829163 Benign
67919 Q9UPS8 (ANKRD26) F L 1514 rs2274741 Benign
67920 Q9UPT6 (MAPK8IP3) L P 444 - Disease: Neurodevelop mental disorder with or without variable brain abnormalitie s (NEDBA) [MIM:618443]
67921 Q9UPT6 (MAPK8IP3) R C 578 - Disease: Neurodevelop mental disorder with or without variable brain abnormalitie s (NEDBA) [MIM:618443]
67922 Q9UPT6 (MAPK8IP3) T A 753 rs2294619 Benign
67923 Q9UPT6 (MAPK8IP3) R C 1146 - Disease: Neurodevelop mental disorder with or without variable brain abnormalitie s (NEDBA) [MIM:618443]
67924 Q9UPT8 (ZC3H4) E K 287 rs192824 Benign
67925 Q9UPT8 (ZC3H4) M V 464 rs402833 Benign
67926 Q9UPT8 (ZC3H4) A G 1228 rs309195 Benign
67927 Q9UPU5 (USP24) T I 226 rs1165222 Benign
67928 Q9UPU5 (USP24) G S 1940 rs2274540 Benign
67929 Q9UPU5 (USP24) Y S 2134 rs12753590 Benign
67930 Q9UPU5 (USP24) V A 2468 rs487230 Benign
67931 Q9UPV0 (CEP164) Q P 11 rs387907309 Disease: Nephronophth isis 15 (NPHP15) [MIM:614845]
67932 Q9UPV0 (CEP164) R W 93 rs387907310 Disease: Nephronophth isis 15 (NPHP15) [MIM:614845]
67933 Q9UPV0 (CEP164) S N 94 rs490262 Benign
67934 Q9UPV0 (CEP164) T S 988 rs2305830 Benign
67935 Q9UPV0 (CEP164) Q R 1119 rs573455 Benign
67936 Q9UPW0 (FOXJ3) V A 162 rs343376 Benign
67937 Q9UPW0 (FOXJ3) T P 377 rs1139978 Benign
67938 Q9UPW5 (AGTPBP1) Y D 694 - Disease: Neurodegener ation, childhood- onset, with cerebellar atrophy (CONDCA) [MIM:618276]
67939 Q9UPW5 (AGTPBP1) T M 851 rs760300826 Disease: Neurodegener ation, childhood- onset, with cerebellar atrophy (CONDCA) [MIM:618276]
67940 Q9UPW5 (AGTPBP1) R W 918 - Disease: Neurodegener ation, childhood- onset, with cerebellar atrophy (CONDCA) [MIM:618276]
67941 Q9UPW5 (AGTPBP1) H L 990 - Disease: Neurodegener ation, childhood- onset, with cerebellar atrophy (CONDCA) [MIM:618276]
67942 Q9UPW6 (SATB2) S P 263 rs12619995 Benign
67943 Q9UPW8 (UNC13A) A T 359 rs34752754 Benign
67944 Q9UPX0 (IGSF9B) T M 178 rs77432041 Benign
67945 Q9UPX0 (IGSF9B) E K 268 rs369063193 Benign
67946 Q9UPX6 (MINAR1) V F 320 rs11634652 Benign
67947 Q9UPX6 (MINAR1) I V 832 rs2297773 Benign
67948 Q9UPY3 (DICER1) S F 839 rs387906934 Disease: Goiter multinodular 1, with or without Sertoli- Leydig cell tumors (MNG1) [MIM:138800]
67949 Q9UPY3 (DICER1) L R 1583 rs137852976 Disease: Pleuropulmon ary blastoma (PPB) [MIM:601200]
67950 Q9UPY3 (DICER1) D Y 1709 - Disease: Global developmenta l delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]
67951 Q9UPY3 (DICER1) D V 1713 - Disease: Global developmenta l delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]
67952 Q9UPY6 (WASF3) S L 415 rs17084492 Benign
67953 Q9UPZ3 (HPS5) L M 417 rs7128017 Benign
67954 Q9UPZ3 (HPS5) L R 624 rs281865102 Disease: Hermansky- Pudlak syndrome 5 (HPS5) [MIM:614074]
67955 Q9UPZ3 (HPS5) T I 1098 rs61884288 Disease: Hermansky- Pudlak syndrome 5 (HPS5) [MIM:614074]
67956 Q9UPZ6 (THSD7A) F L 238 rs2074599 Benign
67957 Q9UPZ6 (THSD7A) N H 583 rs47 Benign
67958 Q9UPZ6 (THSD7A) D E 771 rs2285744 Benign
67959 Q9UPZ6 (THSD7A) D E 906 rs1432 Benign
67960 Q9UPZ6 (THSD7A) D E 1652 rs56264449 Benign
67961 Q9UPZ9 (CILK1) P L 98 rs1493105 Benign
67962 Q9UPZ9 (CILK1) K E 220 - Disease: Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924]
67963 Q9UPZ9 (CILK1) R Q 272 rs118203918 Disease: Endocrine-ce rebroosteody splasia (ECO) [MIM:612651]
67964 Q9UPZ9 (CILK1) K T 305 rs765078446 Disease: Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924]
67965 Q9UPZ9 (CILK1) V I 320 rs33936662 Benign
67966 Q9UPZ9 (CILK1) T K 471 rs56164633 Benign
67967 Q9UPZ9 (CILK1) R Q 476 rs55895113 Benign
67968 Q9UQ03 (CORO2B) L V 238 rs17852400 Benign
67969 Q9UQ07 (MOK) R H 38 rs34114580 Benign
67970 Q9UQ07 (MOK) D N 86 rs34084056 Benign
67971 Q9UQ07 (MOK) V I 217 rs148360666 Benign
67972 Q9UQ07 (MOK) K R 230 rs34965156 Benign
67973 Q9UQ07 (MOK) P S 248 rs34299975 Benign
67974 Q9UQ07 (MOK) Q R 398 rs2236493 Benign
67975 Q9UQ10 (DHDH) A P 2 rs10401800 Benign
67976 Q9UQ10 (DHDH) S N 66 rs2270941 Benign
67977 Q9UQ10 (DHDH) V M 200 rs35453148 Benign
67978 Q9UQ10 (DHDH) V A 247 rs11666105 Benign
67979 Q9UQ10 (DHDH) G R 282 rs3765148 Benign
67980 Q9UQ13 (SHOC2) S G 2 rs267607048 Disease: Noonan syndrome- like disorder with loose anagen hair 1 (NSLH1) [MIM:607721]
67981 Q9UQ13 (SHOC2) M I 173 rs730881020 Disease: Noonan syndrome- like disorder with loose anagen hair 1 (NSLH1) [MIM:607721]
67982 Q9UQ35 (SRRM2) P T 804 rs2240140 Benign
67983 Q9UQ35 (SRRM2) T R 856 rs12185191 Benign
67984 Q9UQ35 (SRRM2) S C 883 rs17136053 Benign
67985 Q9UQ49 (NEU3) R Q 15 rs7115499 Benign
67986 Q9UQ52 (CNTN6) F S 150 rs6808056 Benign
67987 Q9UQ52 (CNTN6) R Q 303 rs41293401 Benign
67988 Q9UQ52 (CNTN6) F V 314 rs774763830 Benign
67989 Q9UQ52 (CNTN6) A S 440 rs265771 Benign
67990 Q9UQ52 (CNTN6) E V 954 rs1447631177 Benign
67991 Q9UQ53 (MGAT4B) Q H 257 rs190631 Benign
67992 Q9UQ53 (MGAT4B) L F 491 rs17854722 Benign
67993 Q9UQ72 (PSG11) V I 83 rs2471952 Benign
67994 Q9UQ72 (PSG11) A T 176 rs1058085 Benign
67995 Q9UQ72 (PSG11) N D 264 rs10414166 Benign
67996 Q9UQ72 (PSG11) E K 310 rs10412348 Benign
67997 Q9UQ74 (PSG8) Q P 315 rs11879884 Benign
67998 Q9UQ74 (PSG8) V D 349 rs1064490 Benign
67999 Q9UQ84 (EXO1) V A 27 rs1472620416 Benign
68000 Q9UQ84 (EXO1) V I 76 rs4149864 Benign
68001 Q9UQ84 (EXO1) R G 93 rs4149865 Benign
68002 Q9UQ84 (EXO1) E K 109 rs143546023 Benign
68003 Q9UQ84 (EXO1) A S 137 rs147663824 Benign
68004 Q9UQ84 (EXO1) A V 153 - Benign
68005 Q9UQ84 (EXO1) N S 279 rs4149909 Benign
68006 Q9UQ84 (EXO1) N S 299 rs4149910 Benign
68007 Q9UQ84 (EXO1) H R 354 rs735943 Benign
68008 Q9UQ84 (EXO1) L R 410 rs571928768 Benign
68009 Q9UQ84 (EXO1) D N 428 rs4149962 Benign
68010 Q9UQ84 (EXO1) F C 438 - Benign
68011 Q9UQ84 (EXO1) T M 439 rs4149963 Benign
68012 Q9UQ84 (EXO1) S Y 456 rs4149964 Benign
68013 Q9UQ84 (EXO1) V M 458 rs4149965 Benign
68014 Q9UQ84 (EXO1) V L 460 rs4149966 Benign
68015 Q9UQ84 (EXO1) R T 503 rs4149967 Benign
68016 Q9UQ84 (EXO1) E K 589 rs1047840 Benign
68017 Q9UQ84 (EXO1) S G 610 rs12122770 Benign
68018 Q9UQ84 (EXO1) R Q 634 rs4149978 Benign
68019 Q9UQ84 (EXO1) P A 640 rs61736331 Benign
68020 Q9UQ84 (EXO1) P S 640 rs61736331 Benign
68021 Q9UQ84 (EXO1) E G 670 rs1776148 Benign
68022 Q9UQ84 (EXO1) R C 723 rs1635498 Benign
68023 Q9UQ84 (EXO1) H P 726 - Benign
68024 Q9UQ84 (EXO1) P L 757 rs9350 Benign
68025 Q9UQ84 (EXO1) G E 759 rs4150001 Benign
68026 Q9UQ84 (EXO1) P L 770 rs200622305 Benign
68027 Q9UQ84 (EXO1) A V 827 rs145975455 Benign
68028 Q9UQ88 (CDK11A) C R 57 rs1059832 Benign
68029 Q9UQ88 (CDK11A) S P 92 rs7531938 Benign
68030 Q9UQ88 (CDK11A) R W 93 rs1059831 Benign
68031 Q9UQ88 (CDK11A) L S 402 rs1059828 Benign
68032 Q9UQ88 (CDK11A) V A 658 rs866149312 Benign
68033 Q9UQ90 (SPG7) A T 2 rs535030441 Benign
68034 Q9UQ90 (SPG7) R H 294 rs115661328 Benign
68035 Q9UQ90 (SPG7) G S 349 rs141659620 Disease: Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]
68036 Q9UQ90 (SPG7) R Q 486 rs111475461 Benign
68037 Q9UQ90 (SPG7) T A 503 rs2292954 Benign
68038 Q9UQ90 (SPG7) A V 510 rs61755320 Disease: Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]
68039 Q9UQ90 (SPG7) F L 545 rs758338586 Benign
68040 Q9UQ90 (SPG7) W C 583 rs267607085 Disease: Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]
68041 Q9UQ90 (SPG7) A T 603 rs370852816 Benign
68042 Q9UQ90 (SPG7) F C 623 rs17783943 Benign
68043 Q9UQ90 (SPG7) S L 635 rs864622507 Benign
68044 Q9UQ90 (SPG7) S T 645 rs2099104 Benign
68045 Q9UQ90 (SPG7) R Q 688 rs12960 Benign
68046 Q9UQ90 (SPG7) S T 692 rs121918357 Disease: Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]
68047 Q9UQ90 (SPG7) N D 730 rs35749032 Benign
68048 Q9UQB3 (CTNND2) G S 34 rs151129181 Disease: -
68049 Q9UQB3 (CTNND2) P L 189 rs149573037 Disease: -
68050 Q9UQB3 (CTNND2) P L 224 rs769623284 Disease: -
68051 Q9UQB3 (CTNND2) R H 330 rs199506424 Benign
68052 Q9UQB3 (CTNND2) R H 454 rs750266236 Disease: -
68053 Q9UQB3 (CTNND2) D N 465 rs200377770 Benign
68054 Q9UQB3 (CTNND2) A T 482 rs61750706 Benign
68055 Q9UQB3 (CTNND2) Q P 507 rs142843736 Disease: -
68056 Q9UQB3 (CTNND2) R C 713 rs768575356 Disease: -
68057 Q9UQB3 (CTNND2) G R 810 rs61754599 Benign
68058 Q9UQB8 (BAIAP2) Q R 519 rs4969391 Benign
68059 Q9UQC2 (GAB2) P L 320 rs752597583 Benign
68060 Q9UQC2 (GAB2) P L 344 rs2279374 Benign
68061 Q9UQC9 (CLCA2) V I 80 rs11580625 Benign
68062 Q9UQC9 (CLCA2) Q E 306 rs17409304 Benign
68063 Q9UQC9 (CLCA2) G D 534 rs1413426 Benign
68064 Q9UQD0 (SCN8A) F L 210 - Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68065 Q9UQD0 (SCN8A) V D 216 rs879255696 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68066 Q9UQD0 (SCN8A) R G 223 rs672601319 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68067 Q9UQD0 (SCN8A) S P 232 - Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68068 Q9UQD0 (SCN8A) T I 767 rs797045013 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68069 Q9UQD0 (SCN8A) F S 846 rs879255700 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68070 Q9UQD0 (SCN8A) R E 850 - Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68071 Q9UQD0 (SCN8A) A T 890 rs879255702 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68072 Q9UQD0 (SCN8A) V M 891 - Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68073 Q9UQD0 (SCN8A) S G 978 rs1057519540 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68074 Q9UQD0 (SCN8A) N K 984 rs876657399 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68075 Q9UQD0 (SCN8A) L V 1279 - Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68076 Q9UQD0 (SCN8A) I V 1327 rs879255704 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68077 Q9UQD0 (SCN8A) G S 1451 rs863223345 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68078 Q9UQD0 (SCN8A) N K 1466 rs587777722 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68079 Q9UQD0 (SCN8A) N T 1466 rs587777723 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68080 Q9UQD0 (SCN8A) G R 1475 rs796053216 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68081 Q9UQD0 (SCN8A) E K 1483 rs879255652 Disease: Seizures, benign familial infantile, 5 (BFIS5) [MIM:617080]
68082 Q9UQD0 (SCN8A) V A 1598 - Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68083 Q9UQD0 (SCN8A) R Q 1617 rs587777721 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68084 Q9UQD0 (SCN8A) A T 1650 rs879255709 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68085 Q9UQD0 (SCN8A) P R 1719 - Disease: Myoclonus, familial, 2 (MYOCL2) [MIM:618364]
68086 Q9UQD0 (SCN8A) N D 1768 rs202151337 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68087 Q9UQD0 (SCN8A) R L 1872 rs796053229 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68088 Q9UQD0 (SCN8A) R Q 1872 rs796053229 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68089 Q9UQD0 (SCN8A) R W 1872 rs796053228 Disease: Epileptic encephalopat hy, early infantile, 13 (EIEE13) [MIM:614558]
68090 Q9UQD0 (SCN8A) N S 1877 rs587780455 Disease: Seizures, benign familial infantile, 5 (BFIS5) [MIM:617080]
68091 Q9UQF0 (ERVW-1) V A 129 rs142852059 Benign
68092 Q9UQF0 (ERVW-1) R Q 138 rs55903518 Benign
68093 Q9UQF0 (ERVW-1) S N 307 rs10266695 Benign
68094 Q9UQF0 (ERVW-1) S F 477 rs141340741 Benign
68095 Q9UQF2 (MAPK8IP1) S N 59 rs119489103 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
68096 Q9UQF2 (MAPK8IP1) A V 322 rs34420676 Benign
68097 Q9UQF2 (MAPK8IP1) R Q 353 rs12295161 Benign
68098 Q9UQK1 (PPP1R3C) A S 109 rs7089948 Benign
68099 Q9UQK1 (PPP1R3C) N S 249 rs373998228 Benign
68100 Q9UQL6 (HDAC5) R Q 137 rs438096 Benign
68101 Q9UQL6 (HDAC5) G A 565 rs33916560 Benign
68102 Q9UQM7 (CAMK2A) F S 98 rs1554122526 Disease: Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
68103 Q9UQM7 (CAMK2A) E D 109 - Disease: Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
68104 Q9UQM7 (CAMK2A) E V 183 rs1554122129 Disease: Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
68105 Q9UQM7 (CAMK2A) P Q 212 - Disease: Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
68106 Q9UQM7 (CAMK2A) H R 282 rs1554121875 Disease: Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
68107 Q9UQM7 (CAMK2A) T P 286 rs1554121872 Disease: Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
68108 Q9UQM7 (CAMK2A) H Y 466 rs1554119274 Disease: Mental retardation, autosomal recessive 63 (MRT63) [MIM:618095]
68109 Q9UQN3 (CHMP2B) I V 29 rs63750818 Disease: Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]
68110 Q9UQN3 (CHMP2B) T N 104 rs281864934 Disease: Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]
68111 Q9UQN3 (CHMP2B) D Y 148 rs63750653 Disease: Frontotempor al dementia, chromosome 3-linked (FTD3) [MIM:600795]
68112 Q9UQN3 (CHMP2B) Q H 206 rs63751126 Disease: Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]
68113 Q9UQP3 (TNN) R G 79 rs2072032 Benign
68114 Q9UQP3 (TNN) D N 289 rs16847812 Benign
68115 Q9UQP3 (TNN) R S 440 rs6664276 Benign
68116 Q9UQP3 (TNN) T M 499 rs17374761 Benign
68117 Q9UQP3 (TNN) W R 807 rs6696455 Benign
68118 Q9UQP3 (TNN) M V 859 rs6694078 Benign
68119 Q9UQP3 (TNN) P L 930 rs2285215 Benign
68120 Q9UQP3 (TNN) T M 941 rs10798333 Benign
68121 Q9UQP3 (TNN) D E 1135 rs10158841 Benign
68122 Q9UQP3 (TNN) A V 1156 rs2072036 Benign
68123 Q9UQQ1 (NAALADL1) Q H 2 rs35422506 Benign
68124 Q9UQQ1 (NAALADL1) K T 398 rs12223986 Benign
68125 Q9UQQ1 (NAALADL1) L V 611 rs36053340 Benign
68126 Q9UQQ2 (SH2B3) F L 182 rs7972796 Benign
68127 Q9UQQ2 (SH2B3) W R 262 rs3184504 Benign
68128 Q9UQV4 (LAMP3) E G 32 rs17853113 Benign
68129 Q9UQV4 (LAMP3) I V 318 rs482912 Benign
68130 Q9Y210 (TRPC6) P S 15 rs3802829 Benign
68131 Q9Y210 (TRPC6) G S 109 - Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68132 Q9Y210 (TRPC6) P Q 112 rs121434390 Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68133 Q9Y210 (TRPC6) N S 143 rs121434391 Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68134 Q9Y210 (TRPC6) N T 157 rs35857503 Benign
68135 Q9Y210 (TRPC6) R Q 175 rs1451194842 Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68136 Q9Y210 (TRPC6) H L 218 rs779430565 Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68137 Q9Y210 (TRPC6) S T 270 rs121434392 Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68138 Q9Y210 (TRPC6) A V 404 rs36111323 Benign
68139 Q9Y210 (TRPC6) G D 757 - Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68140 Q9Y210 (TRPC6) R C 895 rs121434394 Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68141 Q9Y210 (TRPC6) R L 895 - Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68142 Q9Y210 (TRPC6) E K 897 rs121434395 Disease: Focal segmental glomeruloscl erosis 2 (FSGS2) [MIM:603965]
68143 Q9Y215 (COLQ) P Q 59 - Disease: Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
68144 Q9Y215 (COLQ) S G 312 rs6782980 Benign
68145 Q9Y215 (COLQ) I T 337 rs1057521153 Disease: Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
68146 Q9Y215 (COLQ) D E 342 rs758554049 Disease: Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
68147 Q9Y215 (COLQ) R Q 410 rs1025361623 Disease: Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
68148 Q9Y215 (COLQ) Y S 430 rs121908923 Disease: Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
68149 Q9Y215 (COLQ) C Y 444 - Disease: Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
68150 Q9Y216 (MTMR7) P A 44 rs7388581 Benign
68151 Q9Y216 (MTMR7) Q H 559 rs3764796 Benign
68152 Q9Y217 (MTMR6) A T 131 rs34885345 Benign
68153 Q9Y217 (MTMR6) I V 319 rs7995033 Benign
68154 Q9Y219 (JAG2) E K 501 rs1057744 Benign
68155 Q9Y219 (JAG2) D N 538 rs9972231 Benign
68156 Q9Y222 (DMTF1) V I 479 rs1558049 Benign
68157 Q9Y223 (GNE) P S 27 rs1554664064 Disease: Nonaka myopathy (NM) [MIM:605820]
68158 Q9Y223 (GNE) P L 36 - Disease: Nonaka myopathy (NM) [MIM:605820]
68159 Q9Y223 (GNE) H Q 132 - Disease: Nonaka myopathy (NM) [MIM:605820]
68160 Q9Y223 (GNE) R C 162 rs769215411 Disease: Nonaka myopathy (NM) [MIM:605820]
68161 Q9Y223 (GNE) M V 171 rs121908634 Disease: Nonaka myopathy (NM) [MIM:605820]
68162 Q9Y223 (GNE) D V 176 rs139425890 Disease: Nonaka myopathy (NM) [MIM:605820]
68163 Q9Y223 (GNE) R C 177 rs539332585 Disease: Nonaka myopathy (NM) [MIM:605820]
68164 Q9Y223 (GNE) I F 200 rs369328625 Disease: Nonaka myopathy (NM) [MIM:605820]
68165 Q9Y223 (GNE) G S 206 rs766266918 Disease: Nonaka myopathy (NM) [MIM:605820]
68166 Q9Y223 (GNE) V A 216 rs779694939 Disease: Nonaka myopathy (NM) [MIM:605820]
68167 Q9Y223 (GNE) D N 225 rs121908630 Disease: Nonaka myopathy (NM) [MIM:605820]
68168 Q9Y223 (GNE) R Q 246 rs121908629 Disease: Nonaka myopathy (NM) [MIM:605820]
68169 Q9Y223 (GNE) R W 246 rs773729410 Disease: Nonaka myopathy (NM) [MIM:605820]
68170 Q9Y223 (GNE) R L 263 rs121908623 Disease: Sialuria (SIALURIA) [MIM:269921]
68171 Q9Y223 (GNE) R Q 266 rs121908622 Disease: Sialuria (SIALURIA) [MIM:269921]
68172 Q9Y223 (GNE) R W 266 rs121908621 Disease: Sialuria (SIALURIA) [MIM:269921]
68173 Q9Y223 (GNE) C V 303 rs121908633 Disease: Nonaka myopathy (NM) [MIM:605820]
68174 Q9Y223 (GNE) R Q 306 rs1455785164 Disease: Nonaka myopathy (NM) [MIM:605820]
68175 Q9Y223 (GNE) V A 331 - Disease: Nonaka myopathy (NM) [MIM:605820]
68176 Q9Y223 (GNE) D Y 378 rs199877522 Disease: Nonaka myopathy (NM) [MIM:605820]
68177 Q9Y223 (GNE) A V 460 rs121908631 Disease: Nonaka myopathy (NM) [MIM:605820]
68178 Q9Y223 (GNE) I T 472 - Disease: Nonaka myopathy (NM) [MIM:605820]
68179 Q9Y223 (GNE) N S 519 rs1554658910 Disease: Nonaka myopathy (NM) [MIM:605820]
68180 Q9Y223 (GNE) A V 524 rs764698870 Disease: Nonaka myopathy (NM) [MIM:605820]
68181 Q9Y223 (GNE) F C 528 rs986773986 Disease: Nonaka myopathy (NM) [MIM:605820]
68182 Q9Y223 (GNE) I T 557 rs886043979 Disease: Nonaka myopathy (NM) [MIM:605820]
68183 Q9Y223 (GNE) V L 572 rs121908632 Disease: Nonaka myopathy (NM) [MIM:605820]
68184 Q9Y223 (GNE) G E 576 rs121908625 Disease: Nonaka myopathy (NM) [MIM:605820]
68185 Q9Y223 (GNE) I T 587 rs748949603 Disease: Nonaka myopathy (NM) [MIM:605820]
68186 Q9Y223 (GNE) A T 600 rs387906347 Disease: Nonaka myopathy (NM) [MIM:605820]
68187 Q9Y223 (GNE) A T 630 rs1382191649 Disease: Nonaka myopathy (NM) [MIM:605820]
68188 Q9Y223 (GNE) A T 631 rs121908626 Disease: Nonaka myopathy (NM) [MIM:605820]
68189 Q9Y223 (GNE) A V 631 rs62541771 Disease: Nonaka myopathy (NM) [MIM:605820]
68190 Q9Y223 (GNE) Y H 675 rs1191857860 Disease: Nonaka myopathy (NM) [MIM:605820]
68191 Q9Y223 (GNE) V M 696 rs121908627 Disease: Nonaka myopathy (NM) [MIM:605820]
68192 Q9Y223 (GNE) M T 712 rs28937594 Disease: Nonaka myopathy (NM) [MIM:605820]
68193 Q9Y226 (SLC22A13) V I 43 rs17853496 Benign
68194 Q9Y226 (SLC22A13) L F 443 rs17857080 Benign
68195 Q9Y227 (ENTPD4) I V 341 rs549468877 Benign
68196 Q9Y227 (ENTPD4) K E 354 rs2272641 Benign
68197 Q9Y228 (TRAF3IP3) Q E 373 rs669694 Benign
68198 Q9Y231 (FUT9) T A 237 rs3811069 Benign
68199 Q9Y231 (FUT9) W G 358 rs9986564 Benign
68200 Q9Y232 (CDYL) T A 2 rs3812179 Benign
68201 Q9Y232 (CDYL) S P 9 rs3812178 Benign
68202 Q9Y232 (CDYL) V A 48 rs13196069 Benign
68203 Q9Y232 (CDYL) A G 60 rs28360500 Benign
68204 Q9Y233 (PDE10A) Y C 97 rs778899140 Disease: Dyskinesia, limb and orofacial, infantile- onset (IOLOD) [MIM:616921]
68205 Q9Y233 (PDE10A) A P 106 rs875989839 Disease: Dyskinesia, limb and orofacial, infantile- onset (IOLOD) [MIM:616921]
68206 Q9Y233 (PDE10A) F L 290 rs875989841 Disease: Striatal degeneration , autosomal dominant 2 (ADSD2) [MIM:616922]
68207 Q9Y233 (PDE10A) L P 303 - Benign
68208 Q9Y233 (PDE10A) F L 324 rs875989840 Disease: Striatal degeneration , autosomal dominant 2 (ADSD2) [MIM:616922]
68209 Q9Y233 (PDE10A) R K 706 rs2224252 Benign
68210 Q9Y233 (PDE10A) D N 707 rs2860112 Benign
68211 Q9Y234 (LIPT1) S F 71 rs767568897 Disease: Lipoyltransf erase 1 deficiency (LIPT1D) [MIM:616299]
68212 Q9Y234 (LIPT1) R G 98 rs137973334 Disease: Lipoyltransf erase 1 deficiency (LIPT1D) [MIM:616299]
68213 Q9Y234 (LIPT1) T A 179 rs786205156 Disease: Lipoyltransf erase 1 deficiency (LIPT1D) [MIM:616299]
68214 Q9Y235 (APOBEC2) I T 136 rs2076472 Benign
68215 Q9Y236 (OSGIN2) Y H 101 rs35542900 Benign
68216 Q9Y236 (OSGIN2) C S 319 rs35599414 Benign
68217 Q9Y238 (DLEC1) L R 79 rs7625806 Benign
68218 Q9Y238 (DLEC1) S F 192 rs34012183 Benign
68219 Q9Y238 (DLEC1) K N 1022 rs36012922 Benign
68220 Q9Y238 (DLEC1) N D 1150 rs9840172 Benign
68221 Q9Y238 (DLEC1) L P 1227 rs9810085 Benign
68222 Q9Y239 (NOD1) E K 266 rs2075820 Benign
68223 Q9Y239 (NOD1) D N 372 rs5743342 Benign
68224 Q9Y239 (NOD1) R H 447 rs2975634 Benign
68225 Q9Y239 (NOD1) R W 605 rs5743345 Benign
68226 Q9Y239 (NOD1) A T 610 rs5743346 Benign
68227 Q9Y240 (CLEC11A) P R 104 rs2303688 Benign
68228 Q9Y242 (TCF19) P S 109 rs7750641 Benign
68229 Q9Y242 (TCF19) M V 211 rs2073721 Benign
68230 Q9Y242 (TCF19) P L 241 rs2073724 Benign
68231 Q9Y243 (AKT3) E K 17 rs397514606 Disease: Melanoma
68232 Q9Y243 (AKT3) N S 229 rs397514605 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 2 (MPPH2) [MIM:615937]
68233 Q9Y243 (AKT3) R W 465 rs587776935 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 2 (MPPH2) [MIM:615937]
68234 Q9Y250 (LZTS1) S P 29 rs28937897 Benign
68235 Q9Y250 (LZTS1) S F 50 rs34620053 Benign
68236 Q9Y250 (LZTS1) K E 119 rs119473032 Benign
68237 Q9Y250 (LZTS1) L V 475 rs723874 Benign
68238 Q9Y251 (HPSE) K R 307 rs11099592 Benign
68239 Q9Y252 (RNF6) N S 48 rs3910433 Benign
68240 Q9Y252 (RNF6) R K 102 rs121434522 Benign
68241 Q9Y252 (RNF6) I T 164 rs61760897 Benign
68242 Q9Y252 (RNF6) V E 203 rs7990167 Benign
68243 Q9Y252 (RNF6) A T 242 rs121434523 Benign
68244 Q9Y252 (RNF6) G D 244 rs121434524 Benign
68245 Q9Y252 (RNF6) R Q 572 rs138379662 Benign
68246 Q9Y252 (RNF6) S N 623 rs17083436 Benign
68247 Q9Y253 (POLH) R P 93 rs756931657 Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68248 Q9Y253 (POLH) R H 111 rs758423288 Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68249 Q9Y253 (POLH) T P 122 - Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68250 Q9Y253 (POLH) G V 209 rs2307456 Benign
68251 Q9Y253 (POLH) G V 263 rs1413703153 Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68252 Q9Y253 (POLH) V D 266 - Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68253 Q9Y253 (POLH) G R 295 - Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68254 Q9Y253 (POLH) R W 334 rs9333548 Benign
68255 Q9Y253 (POLH) R S 361 - Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68256 Q9Y253 (POLH) T M 478 rs9296419 Benign
68257 Q9Y253 (POLH) K E 535 rs56307355 Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68258 Q9Y253 (POLH) L P 584 rs9333554 Benign
68259 Q9Y253 (POLH) K T 589 rs121908565 Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68260 Q9Y253 (POLH) M V 595 rs9333555 Benign
68261 Q9Y253 (POLH) M L 647 rs6941583 Benign
68262 Q9Y253 (POLH) T A 692 rs199562456 Disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]
68263 Q9Y257 (KCNK6) T I 150 rs35762773 Benign
68264 Q9Y257 (KCNK6) V I 240 rs35496032 Benign
68265 Q9Y257 (KCNK6) V M 259 rs34989303 Benign
68266 Q9Y258 (CCL26) L R 18 rs11465333 Benign
68267 Q9Y259 (CHKB) E K 283 - Disease: Muscular dystrophy, congenital, megaconial type (MDCMC) [MIM:602541]
68268 Q9Y259 (CHKB) T I 301 rs147485527 Benign
68269 Q9Y259 (CHKB) Q R 328 rs141381896 Benign
68270 Q9Y259 (CHKB) R L 377 - Disease: Muscular dystrophy, congenital, megaconial type (MDCMC) [MIM:602541]
68271 Q9Y263 (PLAA) G V 23 rs747956857 Disease: Neurodevelop mental disorder with progressive microcephaly , spasticity, and brain anomalies (NDMSBA) [MIM:617527]
68272 Q9Y263 (PLAA) L F 752 rs1114167457 Disease: Neurodevelop mental disorder with progressive microcephaly , spasticity, and brain anomalies (NDMSBA) [MIM:617527]
68273 Q9Y264 (ANGPT4) E K 395 rs869171 Benign
68274 Q9Y267 (SLC22A14) P H 108 rs9847584 Benign
68275 Q9Y267 (SLC22A14) K E 112 rs2073714 Benign
68276 Q9Y267 (SLC22A14) I T 144 rs194685 Benign
68277 Q9Y267 (SLC22A14) S L 245 rs1078846 Benign
68278 Q9Y267 (SLC22A14) V M 284 rs818818 Benign
68279 Q9Y267 (SLC22A14) S G 292 rs818817 Benign
68280 Q9Y267 (SLC22A14) L P 466 rs34256819 Benign
68281 Q9Y267 (SLC22A14) A V 512 rs2070492 Benign
68282 Q9Y267 (SLC22A14) P R 560 rs240033 Benign
68283 Q9Y274 (ST3GAL6) A T 311 rs28489284 Benign
68284 Q9Y275 (TNFSF13B) A T 105 rs201543678 Benign
68285 Q9Y276 (BCS1L) G R 35 rs121908579 Disease: Bjoernstad syndrome (BJS) [MIM:262000]
68286 Q9Y276 (BCS1L) R C 45 rs121908575 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68287 Q9Y276 (BCS1L) T A 50 rs121908580 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68288 Q9Y276 (BCS1L) R C 73 rs140812286 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68289 Q9Y276 (BCS1L) S G 78 rs28937590 Disease: GRACILE syndrome (GRACILE) [MIM:603358]
68290 Q9Y276 (BCS1L) P L 99 rs121908572 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68291 Q9Y276 (BCS1L) R W 114 rs778769841 Disease: Bjoernstad syndrome (BJS) [MIM:262000]
68292 Q9Y276 (BCS1L) G R 129 rs1057521059 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68293 Q9Y276 (BCS1L) R Q 144 rs386833857 Disease: GRACILE syndrome (GRACILE) [MIM:603358]
68294 Q9Y276 (BCS1L) R P 155 rs121908573 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68295 Q9Y276 (BCS1L) R C 183 rs144885874 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68296 Q9Y276 (BCS1L) R H 183 rs121908577 Disease: Bjoernstad syndrome (BJS) [MIM:262000]
68297 Q9Y276 (BCS1L) R C 184 rs121908578 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68298 Q9Y276 (BCS1L) S N 277 rs121908571 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68299 Q9Y276 (BCS1L) Y N 301 rs587777278 Disease: Bjoernstad syndrome (BJS) [MIM:262000]
68300 Q9Y276 (BCS1L) Q E 302 rs1457171169 Disease: Bjoernstad syndrome (BJS) [MIM:262000]
68301 Q9Y276 (BCS1L) R H 306 rs1280810181 Disease: Bjoernstad syndrome (BJS) [MIM:262000]
68302 Q9Y276 (BCS1L) V A 327 rs386833858 Disease: GRACILE syndrome (GRACILE) [MIM:603358]
68303 Q9Y276 (BCS1L) V M 353 rs121908574 Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68304 Q9Y276 (BCS1L) F I 368 - Disease: Mitochondria l complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
68305 Q9Y278 (HS3ST2) P A 339 rs17725080 Benign
68306 Q9Y279 (VSIG4) R W 108 rs34581041 Benign
68307 Q9Y279 (VSIG4) G E 272 rs34222730 Benign
68308 Q9Y279 (VSIG4) G E 279 rs17315645 Benign
68309 Q9Y279 (VSIG4) S I 397 rs35553694 Benign
68310 Q9Y281 (CFL2) A T 35 rs80358250 Disease: Nemaline myopathy 7 (NEM7) [MIM:610687]
68311 Q9Y282 (ERGIC3) I L 113 rs35505616 Benign
68312 Q9Y283 (INVS) S L 242 rs2491097 Benign
68313 Q9Y283 (INVS) P R 482 - Disease: Nephronophth isis 2 (NPHP2) [MIM:602088]
68314 Q9Y283 (INVS) L S 493 rs121964995 Disease: Nephronophth isis 2 (NPHP2) [MIM:602088]
68315 Q9Y283 (INVS) S R 888 rs1052867 Benign
68316 Q9Y284 (WDR83OS) P A 104 rs3209404 Benign
68317 Q9Y285 (FARSA) Q R 341 rs35087277 Benign
68318 Q9Y287 (ITM2B) A T 15 rs11556905 Benign
68319 Q9Y287 (ITM2B) E A 261 rs606231283 Disease: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalitie s (RDGCA) [MIM:616079]
68320 Q9Y289 (SLC5A6) S F 481 rs1395 Benign
68321 Q9Y289 (SLC5A6) S N 492 rs1064845 Benign
68322 Q9Y296 (TRAPPC4) D A 78 rs11640 Benign
68323 Q9Y297 (BTRC) A S 543 rs4151060 Benign
68324 Q9Y297 (BTRC) P H 592 rs2270439 Benign
68325 Q9Y2A4 (ZNF443) K I 111 rs28599549 Benign
68326 Q9Y2A4 (ZNF443) K N 111 rs4239550 Benign
68327 Q9Y2A4 (ZNF443) Q H 397 rs35699767 Benign
68328 Q9Y2A4 (ZNF443) C F 485 rs10422063 Benign
68329 Q9Y2A4 (ZNF443) P Q 591 rs7256321 Benign
68330 Q9Y2A9 (B3GNT3) I F 317 - Benign
68331 Q9Y2A9 (B3GNT3) R H 328 rs36686 Benign
68332 Q9Y2B1 (RXYLT1) Y C 339 rs150736997 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041]
68333 Q9Y2B1 (RXYLT1) R L 340 rs397514544 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041]
68334 Q9Y2B2 (PIGL) L P 167 rs145303331 Disease: Coloboma, congenital heart disease, ichthyosifor m dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM:280000]
68335 Q9Y2B4 (TP53TG5) R H 57 rs2231616 Benign
68336 Q9Y2B4 (TP53TG5) V A 172 rs2231619 Benign
68337 Q9Y2B4 (TP53TG5) R H 191 rs2231620 Benign
68338 Q9Y2B4 (TP53TG5) H Q 219 rs2231622 Benign
68339 Q9Y2B4 (TP53TG5) P L 221 rs2231623 Benign
68340 Q9Y2B4 (TP53TG5) V A 257 rs2231627 Benign
68341 Q9Y2B4 (TP53TG5) H N 275 rs2231628 Benign
68342 Q9Y2C2 (UST) M L 21 rs9498146 Benign
68343 Q9Y2C3 (B3GALT5) S R 27 rs12627708 Benign
68344 Q9Y2C3 (B3GALT5) M T 85 rs3746887 Benign
68345 Q9Y2C3 (B3GALT5) R H 144 rs734411 Benign
68346 Q9Y2C4 (EXOG) G V 277 rs1141223 Benign
68347 Q9Y2C5 (SLC17A4) A T 372 rs11754288 Benign
68348 Q9Y2C9 (TLR6) I T 120 rs5743808 Benign
68349 Q9Y2C9 (TLR6) L V 128 rs137853178 Benign
68350 Q9Y2C9 (TLR6) L P 194 rs5743809 Benign
68351 Q9Y2C9 (TLR6) A G 210 rs137853180 Benign
68352 Q9Y2C9 (TLR6) A T 210 rs137853179 Benign
68353 Q9Y2C9 (TLR6) R K 247 rs35220466 Benign
68354 Q9Y2C9 (TLR6) S P 249 rs5743810 Benign
68355 Q9Y2C9 (TLR6) I V 283 rs137853181 Benign
68356 Q9Y2C9 (TLR6) V M 327 rs3796508 Benign
68357 Q9Y2C9 (TLR6) H Y 345 rs5743813 Benign
68358 Q9Y2C9 (TLR6) V A 427 rs5743815 Benign
68359 Q9Y2C9 (TLR6) D A 442 rs137853182 Benign
68360 Q9Y2C9 (TLR6) V I 465 rs5743816 Benign
68361 Q9Y2C9 (TLR6) A T 474 rs5743817 Benign
68362 Q9Y2C9 (TLR6) A V 474 rs1302799168 Benign
68363 Q9Y2C9 (TLR6) G V 592 rs75244616 Benign
68364 Q9Y2C9 (TLR6) N T 690 rs114855575 Benign
68365 Q9Y2C9 (TLR6) Q H 708 rs137853183 Benign
68366 Q9Y2C9 (TLR6) M V 783 rs5743822 Benign
68367 Q9Y2D1 (ATF5) P L 121 rs283526 Benign
68368 Q9Y2D5 (AKAP2) L S 561 rs914358 Benign
68369 Q9Y2D8 (SSX2IP) C R 578 rs1057746 Benign
68370 Q9Y2E5 (MAN2B2) Q P 243 rs2301796 Benign
68371 Q9Y2E5 (MAN2B2) V M 320 rs2301795 Benign
68372 Q9Y2E5 (MAN2B2) R C 365 rs6858328 Benign
68373 Q9Y2E5 (MAN2B2) M V 446 rs2301790 Benign
68374 Q9Y2E5 (MAN2B2) N S 541 rs2301788 Benign
68375 Q9Y2F5 (ICE1) C S 391 rs2619844 Benign
68376 Q9Y2F5 (ICE1) K E 596 rs10475299 Benign
68377 Q9Y2F5 (ICE1) V I 901 rs2578500 Benign
68378 Q9Y2F5 (ICE1) T A 1054 rs3806873 Benign
68379 Q9Y2F5 (ICE1) G D 1058 rs3806874 Benign
68380 Q9Y2F5 (ICE1) Q P 1597 rs10065646 Benign
68381 Q9Y2F5 (ICE1) P L 1618 rs3747731 Benign
68382 Q9Y2G1 (MYRF) Q R 403 - Disease: Encephalitis /encephalopa thy, mild, with reversible myelin vacuolizatio n (MMERV) [MIM:618113]
68383 Q9Y2G1 (MYRF) G R 435 - Disease: Cardiac- urogenital syndrome (CUGS) [MIM:618280]
68384 Q9Y2G1 (MYRF) A T 723 rs34038946 Benign
68385 Q9Y2G2 (CARD8) I V 68 rs11881179 Benign
68386 Q9Y2G2 (CARD8) E A 99 rs59878320 Benign
68387 Q9Y2G4 (ANKRD6) Q E 122 rs16881983 Benign
68388 Q9Y2G4 (ANKRD6) I V 128 rs3748085 Benign
68389 Q9Y2G4 (ANKRD6) T M 233 rs2273238 Benign
68390 Q9Y2G4 (ANKRD6) T A 545 rs9362667 Benign
68391 Q9Y2G4 (ANKRD6) A T 550 rs9362667 Benign
68392 Q9Y2H0 (DLGAP4) A T 486 rs6019652 Benign
68393 Q9Y2H0 (DLGAP4) R Q 861 rs2275807 Benign
68394 Q9Y2H2 (INPP5F) I V 453 rs3736822 Benign
68395 Q9Y2H2 (INPP5F) N D 997 rs3188055 Benign
68396 Q9Y2H5 (PLEKHA6) V I 43 rs10900571 Benign
68397 Q9Y2H5 (PLEKHA6) R K 837 rs10900562 Benign
68398 Q9Y2H6 (FNDC3A) S G 107 rs34539036 Benign
68399 Q9Y2H8 (ZNF510) Q R 43 rs2289651 Benign
68400 Q9Y2H8 (ZNF510) C R 89 rs3780548 Benign
68401 Q9Y2H8 (ZNF510) N K 273 rs10217154 Benign
68402 Q9Y2H8 (ZNF510) H D 398 rs11999094 Benign
68403 Q9Y2H8 (ZNF510) M I 401 rs10217494 Benign
68404 Q9Y2H8 (ZNF510) G E 634 rs10119874 Benign
68405 Q9Y2H9 (MAST1) G S 517 - Disease: Mega-corpus- callosum syndrome with cerebellar hypoplasia and cortical malformation s (MCCCHCM) [MIM:618273]
68406 Q9Y2H9 (MAST1) A S 1048 rs35052801 Benign
68407 Q9Y2H9 (MAST1) P S 1292 rs35071862 Benign
68408 Q9Y2I1 (NISCH) V I 299 rs9856575 Benign
68409 Q9Y2I1 (NISCH) A V 1056 rs887515 Benign
68410 Q9Y2I6 (NINL) G V 79 rs6115203 Benign
68411 Q9Y2I6 (NINL) S R 191 rs34585177 Benign
68412 Q9Y2I6 (NINL) R W 276 rs13044759 Benign
68413 Q9Y2I6 (NINL) T A 296 rs379538 Benign
68414 Q9Y2I6 (NINL) R G 969 rs6115193 Benign
68415 Q9Y2I6 (NINL) E K 973 rs428801 Benign
68416 Q9Y2I6 (NINL) D N 1077 rs35666277 Benign
68417 Q9Y2I6 (NINL) R C 1276 rs41310175 Benign
68418 Q9Y2I6 (NINL) R H 1366 rs17857107 Benign
68419 Q9Y2I7 (PIKFYVE) M V 617 rs16840913 Benign
68420 Q9Y2I7 (PIKFYVE) S N 696 rs10932258 Benign
68421 Q9Y2I7 (PIKFYVE) L S 932 rs2363468 Benign
68422 Q9Y2I7 (PIKFYVE) Q L 995 rs893254 Benign
68423 Q9Y2I7 (PIKFYVE) T S 998 rs893253 Benign
68424 Q9Y2I7 (PIKFYVE) S A 1033 rs999890 Benign
68425 Q9Y2I7 (PIKFYVE) K R 1103 rs121918336 Disease: Corneal dystrophy, fleck (CFD) [MIM:121850]
68426 Q9Y2I7 (PIKFYVE) Q K 1183 rs1529979 Benign
68427 Q9Y2I7 (PIKFYVE) R Q 1858 rs2289170 Benign
68428 Q9Y2I8 (WDR37) A T 11 rs17856557 Benign
68429 Q9Y2I8 (WDR37) S F 119 - Disease: Neurooculoca rdiogenitour inary syndrome (NOCGUS) [MIM:618652]
68430 Q9Y2I8 (WDR37) T I 125 - Disease: Neurooculoca rdiogenitour inary syndrome (NOCGUS) [MIM:618652]
68431 Q9Y2I8 (WDR37) S C 129 - Disease: Neurooculoca rdiogenitour inary syndrome (NOCGUS) [MIM:618652]
68432 Q9Y2I8 (WDR37) T I 130 - Disease: Neurooculoca rdiogenitour inary syndrome (NOCGUS) [MIM:618652]
68433 Q9Y2I8 (WDR37) Q K 221 rs17856556 Benign
68434 Q9Y2I8 (WDR37) I V 225 rs2306407 Benign
68435 Q9Y2I9 (TBC1D30) Q H 296 rs11615287 Benign
68436 Q9Y2I9 (TBC1D30) N D 596 rs2290527 Benign
68437 Q9Y2I9 (TBC1D30) V I 752 rs939875 Benign
68438 Q9Y2I9 (TBC1D30) N D 759 rs2290527 Benign
68439 Q9Y2J2 (EPB41L3) A T 555 rs9966357 Benign
68440 Q9Y2J2 (EPB41L3) Y C 575 rs8082898 Benign
68441 Q9Y2J2 (EPB41L3) E Q 859 rs8096452 Benign
68442 Q9Y2J4 (AMOTL2) T I 227 rs35377537 Benign
68443 Q9Y2J4 (AMOTL2) A P 342 rs2303635 Benign
68444 Q9Y2J4 (AMOTL2) G S 415 rs2241559 Benign
68445 Q9Y2J4 (AMOTL2) E D 731 rs1353776 Benign
68446 Q9Y2K2 (SIK3) R C 187 - Disease: Spondyloepim etaphyseal dysplasia, Krakow type (SEMDK) [MIM:618162]
68447 Q9Y2K2 (SIK3) D E 1098 rs11216163 Benign
68448 Q9Y2K2 (SIK3) P R 1136 rs12225230 Benign
68449 Q9Y2K3 (MYH15) R Q 454 rs4299484 Benign
68450 Q9Y2K3 (MYH15) H Y 504 rs9868484 Benign
68451 Q9Y2K3 (MYH15) T I 949 rs12638212 Benign
68452 Q9Y2K3 (MYH15) T A 1125 rs3900940 Benign
68453 Q9Y2K3 (MYH15) D N 1467 rs1078456 Benign
68454 Q9Y2K5 (R3HDM2) T A 35 rs11832661 Benign
68455 Q9Y2K6 (USP20) S Y 103 rs36086252 Benign
68456 Q9Y2K6 (USP20) V I 444 rs36055332 Benign
68457 Q9Y2K9 (STXBP5L) T S 568 rs17249244 Benign
68458 Q9Y2K9 (STXBP5L) V I 855 rs17740066 Benign
68459 Q9Y2L1 (DIS3) N S 269 rs4883918 Benign
68460 Q9Y2L1 (DIS3) T R 326 rs7332388 Benign
68461 Q9Y2L5 (TRAPPC8) N S 74 rs34292533 Benign
68462 Q9Y2L5 (TRAPPC8) L S 137 rs6506948 Benign
68463 Q9Y2L5 (TRAPPC8) S G 517 rs17857486 Benign
68464 Q9Y2L5 (TRAPPC8) Q E 708 rs16962530 Benign
68465 Q9Y2L5 (TRAPPC8) R H 954 rs2170562 Benign
68466 Q9Y2L5 (TRAPPC8) T A 1146 rs3737374 Benign
68467 Q9Y2L5 (TRAPPC8) I V 1189 rs36034613 Benign
68468 Q9Y2L5 (TRAPPC8) S P 1298 rs633500 Benign
68469 Q9Y2L9 (LRCH1) S P 234 rs842381 Benign
68470 Q9Y2L9 (LRCH1) A S 486 rs11617392 Benign
68471 Q9Y2M0 (FAN1) G E 233 rs4779794 Benign
68472 Q9Y2M0 (FAN1) C R 871 - Disease: Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
68473 Q9Y2M0 (FAN1) Q P 929 - Disease: Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
68474 Q9Y2M0 (FAN1) G D 937 rs1270571213 Disease: Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
68475 Q9Y2M0 (FAN1) D N 960 rs751703979 Disease: Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
68476 Q9Y2M2 (SSUH2) P L 29 rs2276800 Benign
68477 Q9Y2M2 (SSUH2) P Q 118 rs140981580 Disease: -
68478 Q9Y2N7 (HIF3A) Q R 343 rs3764609 Benign
68479 Q9Y2N7 (HIF3A) F L 463 rs7253301 Benign
68480 Q9Y2P0 (ZNF835) E K 29 rs12462469 Benign
68481 Q9Y2P0 (ZNF835) E A 88 rs12460400 Benign
68482 Q9Y2P4 (SLC27A6) L V 19 rs2526247 Benign
68483 Q9Y2P5 (SLC27A5) M T 50 rs35350976 Benign
68484 Q9Y2P5 (SLC27A5) R W 53 rs34415062 Benign
68485 Q9Y2P7 (ZNF256) F I 304 rs953619 Benign
68486 Q9Y2Q0 (ATP8A1) T M 673 rs3792687 Benign
68487 Q9Y2Q9 (MRPS28) R W 103 rs16919579 Benign
68488 Q9Y2R2 (PTPN22) S F 201 rs7416347 Benign
68489 Q9Y2R2 (PTPN22) R Q 263 rs33996649 Benign
68490 Q9Y2R2 (PTPN22) R W 266 rs72650670 Benign
68491 Q9Y2R2 (PTPN22) R W 620 rs2476601 Disease: Vitiligo (VTLG) [MIM:193200]
68492 Q9Y2R4 (DDX52) M V 403 rs7216445 Benign
68493 Q9Y2R9 (MRPS7) A V 2 rs8075276 Benign
68494 Q9Y2R9 (MRPS7) M V 184 rs115047866 Disease: Combined oxidative phosphorylat ion deficiency 34 (COXPD34) [MIM:617872]
68495 Q9Y2T1 (AXIN2) S P 50 rs2240308 Benign
68496 Q9Y2T6 (GPR55) G V 195 rs3749073 Benign
68497 Q9Y2T6 (GPR55) T N 215 rs34229723 Benign
68498 Q9Y2T7 (YBX2) G V 9 rs222859 Benign
68499 Q9Y2T7 (YBX2) S P 63 rs8069533 Benign
68500 Q9Y2U5 (MAP3K2) I V 110 rs55767983 Benign
68501 Q9Y2U5 (MAP3K2) D G 140 rs56307783 Benign
68502 Q9Y2U8 (LEMD3) D Y 260 rs7487311 Benign
68503 Q9Y2V0 (CDIN1) L V 73 rs3784678 Benign
68504 Q9Y2V0 (CDIN1) Y C 94 rs587777101 Disease: Anemia, congenital dyserythropo ietic, 1B (CDAN1B) [MIM:615631]
68505 Q9Y2V0 (CDIN1) Y S 94 rs587777101 Disease: Anemia, congenital dyserythropo ietic, 1B (CDAN1B) [MIM:615631]
68506 Q9Y2V0 (CDIN1) L Q 178 rs587777100 Disease: Anemia, congenital dyserythropo ietic, 1B (CDAN1B) [MIM:615631]
68507 Q9Y2V0 (CDIN1) H P 230 - Disease: Anemia, congenital dyserythropo ietic, 1B (CDAN1B) [MIM:615631]
68508 Q9Y2V3 (RAX) D E 44 rs2271733 Benign
68509 Q9Y2V3 (RAX) R Q 192 rs121909127 Disease: Microphthalm ia, isolated, 3 (MCOP3) [MIM:611038]
68510 Q9Y2V7 (COG6) A T 10 rs3812882 Benign
68511 Q9Y2V7 (COG6) C S 32 rs3812883 Benign
68512 Q9Y2V7 (COG6) H Y 300 rs34555836 Benign
68513 Q9Y2V7 (COG6) M T 447 rs41286961 Benign
68514 Q9Y2V7 (COG6) G V 549 rs387906959 Disease: Congenital disorder of glycosylatio n 2L (CDG2L) [MIM:614576]
68515 Q9Y2W1 (THRAP3) A V 201 rs6425977 Benign
68516 Q9Y2W3 (SLC45A1) I T 90 rs141816307 Disease: Intellectual developmenta l disorder with neuropsychia tric features (IDDNPF) [MIM:617532]
68517 Q9Y2W3 (SLC45A1) R W 210 rs781036625 Disease: Intellectual developmenta l disorder with neuropsychia tric features (IDDNPF) [MIM:617532]
68518 Q9Y2W3 (SLC45A1) A V 244 rs150539474 Disease: Intellectual developmenta l disorder with neuropsychia tric features (IDDNPF) [MIM:617532]
68519 Q9Y2W6 (TDRKH) G A 257 rs17853082 Benign
68520 Q9Y2W7 (KCNIP3) A V 119 rs35658670 Benign
68521 Q9Y2X0 (MED16) L F 770 rs34859566 Benign
68522 Q9Y2X0 (MED16) E K 874 rs13090 Benign
68523 Q9Y2X3 (NOP58) N T 387 rs34748654 Benign
68524 Q9Y2X3 (NOP58) A P 389 rs34458926 Benign
68525 Q9Y2X3 (NOP58) D A 400 rs35900977 Benign
68526 Q9Y2X3 (NOP58) T P 508 rs34523815 Benign
68527 Q9Y2Y0 (ARL2BP) M R 45 rs398123053 Disease: Retinitis pigmentosa 82 with or without situs inversus (RP82) [MIM:615434]
68528 Q9Y2Y0 (ARL2BP) E K 87 rs7198865 Benign
68529 Q9Y2Y1 (POLR3K) S A 24 rs183360 Benign
68530 Q9Y2Y4 (ZBTB32) R S 174 rs2227278 Benign
68531 Q9Y2Y6 (TMEM98) W R 83 rs35124349 Benign
68532 Q9Y2Y6 (TMEM98) A P 193 rs587777690 Disease: Nanophthalmo s 4 (NNO4) [MIM:615972]
68533 Q9Y2Y6 (TMEM98) H P 196 rs869312733 Disease: Nanophthalmo s 4 (NNO4) [MIM:615972]
68534 Q9Y2Y8 (PRG3) C R 3 rs669661 Benign
68535 Q9Y2Y8 (PRG3) I T 109 rs540687 Benign
68536 Q9Y2Z2 (MTO1) A T 453 rs143747297 Disease: Combined oxidative phosphorylat ion deficiency 10 (COXPD10) [MIM:614702]
68537 Q9Y2Z4 (YARS2) G D 46 rs587777213 Disease: Myopathy with lactic acidosis and sideroblasti c anemia 2 (MLASA2) [MIM:613561]
68538 Q9Y2Z4 (YARS2) F L 52 rs267607180 Disease: Myopathy with lactic acidosis and sideroblasti c anemia 2 (MLASA2) [MIM:613561]
68539 Q9Y2Z4 (YARS2) G V 191 rs11539445 Benign
68540 Q9Y2Z9 (COQ6) D H 208 rs606231262 Disease: -
68541 Q9Y2Z9 (COQ6) G R 255 rs1057519350 Disease: Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]
68542 Q9Y2Z9 (COQ6) E K 287 rs17851169 Benign
68543 Q9Y2Z9 (COQ6) D Y 300 rs1044640 Benign
68544 Q9Y2Z9 (COQ6) D V 339 rs2074930 Benign
68545 Q9Y2Z9 (COQ6) A D 353 rs397514479 Disease: Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]
68546 Q9Y2Z9 (COQ6) T M 395 rs34746680 Benign
68547 Q9Y2Z9 (COQ6) V M 406 rs8500 Benign
68548 Q9Y312 (AAR2) P T 124 rs6121183 Benign
68549 Q9Y314 (NOSIP) T M 168 rs17850728 Benign
68550 Q9Y320 (TMX2) R C 53 - Disease: Neurodevelop mental disorder with microcephaly , cortical malformation s, and spasticity (NEDMCMS) [MIM:618730]
68551 Q9Y320 (TMX2) R Q 205 - Disease: Neurodevelop mental disorder with microcephaly , cortical malformation s, and spasticity (NEDMCMS) [MIM:618730]
68552 Q9Y320 (TMX2) R W 231 - Disease: Neurodevelop mental disorder with microcephaly , cortical malformation s, and spasticity (NEDMCMS) [MIM:618730]
68553 Q9Y334 (VWA7) R H 139 rs17207531 Benign
68554 Q9Y334 (VWA7) R Q 488 rs11966331 Benign
68555 Q9Y334 (VWA7) R Q 680 rs28400004 Benign
68556 Q9Y334 (VWA7) G V 704 rs28400002 Benign
68557 Q9Y334 (VWA7) R C 711 rs28400001 Benign
68558 Q9Y334 (VWA7) T A 861 rs3101017 Benign
68559 Q9Y336 (SIGLEC9) K E 100 rs2075803 Benign
68560 Q9Y336 (SIGLEC9) S N 125 rs200658 Benign
68561 Q9Y336 (SIGLEC9) K Q 131 rs16988910 Benign
68562 Q9Y336 (SIGLEC9) N K 147 rs273687 Benign
68563 Q9Y336 (SIGLEC9) A E 315 rs2258983 Benign
68564 Q9Y336 (SIGLEC9) A D 316 rs273688 Benign
68565 Q9Y336 (SIGLEC9) V A 349 rs273690 Benign
68566 Q9Y337 (KLK5) G R 55 rs2232532 Benign
68567 Q9Y337 (KLK5) D N 153 rs183854 Benign
68568 Q9Y345 (SLC6A5) A E 89 rs61736602 Benign
68569 Q9Y345 (SLC6A5) G S 102 rs1443547 Benign
68570 Q9Y345 (SLC6A5) F S 124 rs1443548 Benign
68571 Q9Y345 (SLC6A5) A G 132 rs34243519 Benign
68572 Q9Y345 (SLC6A5) A G 162 rs1443549 Benign
68573 Q9Y345 (SLC6A5) Q R 184 - Benign
68574 Q9Y345 (SLC6A5) L V 306 rs121908496 Disease: Hyperekplexi a 3 (HKPX3) [MIM:614618]
68575 Q9Y345 (SLC6A5) T M 425 rs121908498 Disease: Hyperekplexi a 3 (HKPX3) [MIM:614618]
68576 Q9Y345 (SLC6A5) P L 429 rs745539706 Disease: Hyperekplexi a 3 (HKPX3) [MIM:614618]
68577 Q9Y345 (SLC6A5) K N 457 rs3740870 Benign
68578 Q9Y345 (SLC6A5) D N 463 rs1805091 Benign
68579 Q9Y345 (SLC6A5) W C 482 - Disease: Hyperekplexi a 3 (HKPX3) [MIM:614618]
68580 Q9Y345 (SLC6A5) Y C 491 rs121908494 Disease: Hyperekplexi a 3 (HKPX3) [MIM:614618]
68581 Q9Y345 (SLC6A5) Y F 499 rs7944684 Benign
68582 Q9Y345 (SLC6A5) N S 509 rs121908497 Disease: Hyperekplexi a 3 (HKPX3) [MIM:614618]
68583 Q9Y345 (SLC6A5) S R 510 rs281864926 Disease: Hyperekplexi a 3 (HKPX3) [MIM:614618]
68584 Q9Y345 (SLC6A5) V A 751 - Benign
68585 Q9Y345 (SLC6A5) G R 767 rs16906628 Benign
68586 Q9Y366 (IFT52) A T 199 rs886037869 Disease: Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16) [MIM:617102]
68587 Q9Y375 (NDUFAF1) R H 9 rs1899 Benign
68588 Q9Y375 (NDUFAF1) R L 31 rs3204853 Benign
68589 Q9Y375 (NDUFAF1) E K 176 rs35227875 Benign
68590 Q9Y375 (NDUFAF1) T P 207 rs387906956 Disease: Mitochondria l complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]
68591 Q9Y375 (NDUFAF1) R C 211 rs387906958 Disease: Mitochondria l complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]
68592 Q9Y375 (NDUFAF1) G R 245 rs376344575 Disease: Mitochondria l complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]
68593 Q9Y375 (NDUFAF1) K R 253 rs387906957 Disease: Mitochondria l complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]
68594 Q9Y375 (NDUFAF1) A G 314 rs12900702 Benign
68595 Q9Y383 (LUC7L2) D E 361 rs3757435 Benign
68596 Q9Y385 (UBE2J1) G V 55 rs8099 Benign
68597 Q9Y385 (UBE2J1) L V 229 rs10502 Benign
68598 Q9Y388 (RBMX2) R H 287 rs5977266 Benign
68599 Q9Y394 (DHRS7) R Q 218 rs34583017 Benign
68600 Q9Y397 (ZDHHC9) R W 148 rs137852214 Disease: Mental retardation, X-linked, syndromic, ZDHHC9-relat ed (MRXSZ) [MIM:300799]
68601 Q9Y397 (ZDHHC9) P S 150 rs137852215 Disease: Mental retardation, X-linked, syndromic, ZDHHC9-relat ed (MRXSZ) [MIM:300799]
68602 Q9Y399 (MRPS2) R C 110 rs761334309 Disease: Combined oxidative phosphorylat ion deficiency 36 (COXPD36) [MIM:617950]
68603 Q9Y399 (MRPS2) D G 112 rs35140806 Benign
68604 Q9Y399 (MRPS2) D N 114 rs201229537 Disease: Combined oxidative phosphorylat ion deficiency 36 (COXPD36) [MIM:617950]
68605 Q9Y399 (MRPS2) R H 138 rs758539748 Disease: Combined oxidative phosphorylat ion deficiency 36 (COXPD36) [MIM:617950]
68606 Q9Y399 (MRPS2) M V 158 rs35293407 Benign
68607 Q9Y399 (MRPS2) H R 294 rs3748199 Benign
68608 Q9Y3A0 (COQ4) R Q 20 rs9697215 Benign
68609 Q9Y3A0 (COQ4) G A 50 rs3003601 Benign
68610 Q9Y3A0 (COQ4) L S 52 rs786204770 Disease: Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]
68611 Q9Y3A0 (COQ4) P S 64 rs766317663 Disease: Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]
68612 Q9Y3A0 (COQ4) R G 145 rs774395996 Disease: Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]
68613 Q9Y3A0 (COQ4) R C 240 rs143441644 Disease: Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]
68614 Q9Y3A4 (RRP7A) L M 75 rs8139383 Benign
68615 Q9Y3A4 (RRP7A) V I 85 rs1812240 Benign
68616 Q9Y3A4 (RRP7A) V I 88 rs11553441 Benign
68617 Q9Y3A5 (SBDS) K T 33 rs373730800 Disease: Shwachman- Diamond syndrome 1 (SDS1) [MIM:260400]
68618 Q9Y3A5 (SBDS) R T 126 rs113993995 Disease: Shwachman- Diamond syndrome 1 (SDS1) [MIM:260400]
68619 Q9Y3A5 (SBDS) I T 212 rs79344818 Benign
68620 Q9Y3A6 (TMED5) T I 175 rs1060622 Benign
68621 Q9Y3B6 (EMC9) A V 97 rs11574512 Benign
68622 Q9Y3B9 (RRP15) A V 32 rs34358288 Benign
68623 Q9Y3B9 (RRP15) K N 149 rs11118075 Benign
68624 Q9Y3B9 (RRP15) K R 230 rs3737978 Benign
68625 Q9Y3C4 (TPRKB) L P 136 rs1553433412 Disease: Galloway- Mowat syndrome 5 (GAMOS5) [MIM:617731]
68626 Q9Y3C4 (TPRKB) Y C 149 rs1233885358 Disease: Galloway- Mowat syndrome 5 (GAMOS5) [MIM:617731]
68627 Q9Y3C5 (RNF11) D E 11 rs12077069 Benign
68628 Q9Y3C6 (PPIL1) C S 36 rs12194408 Benign
68629 Q9Y3C8 (UFC1) R Q 23 rs1181612302 Disease: Neurodevelop mental disorder with spasticity and poor growth (NEDSG) [MIM:618076]
68630 Q9Y3C8 (UFC1) Y C 90 rs17849932 Benign
68631 Q9Y3C8 (UFC1) T I 106 rs1553232770 Disease: Neurodevelop mental disorder with spasticity and poor growth (NEDSG) [MIM:618076]
68632 Q9Y3D2 (MSRB2) E G 46 rs2296466 Benign
68633 Q9Y3D3 (MRPS16) Y H 12 rs7905009 Benign
68634 Q9Y3D7 (PAM16) N D 76 rs786203989 Disease: Spondylometa physeal dysplasia, Megarbane- Dagher- Melike type (SMDMDM) [MIM:613320]
68635 Q9Y3D7 (PAM16) Q K 114 rs11989 Benign
68636 Q9Y3D9 (MRPS23) P R 40 - Disease: -
68637 Q9Y3E2 (BOLA1) G A 98 rs1044808 Benign
68638 Q9Y3E5 (PTRH2) Q P 85 rs730882234 Disease: Neurologic, endocrine, and pancreatic disease, multisystem, infantile- onset (IMNEPD) [MIM:616263]
68639 Q9Y3I0 (RTCB) V A 153 rs11545747 Benign
68640 Q9Y3I0 (RTCB) L F 343 rs17849275 Benign
68641 Q9Y3I1 (FBXO7) M I 115 rs11107 Benign
68642 Q9Y3I1 (FBXO7) R G 378 rs71799110 Disease: Parkinson disease 15 (PARK15) [MIM:260300]
68643 Q9Y3I1 (FBXO7) R C 481 rs148272407 Benign
68644 Q9Y3L3 (SH3BP1) P L 511 rs929038 Benign
68645 Q9Y3L3 (SH3BP1) S F 656 rs2269548 Benign
68646 Q9Y3M8 (STARD13) T M 175 rs9568878 Benign
68647 Q9Y3M8 (STARD13) K R 250 rs3742321 Benign
68648 Q9Y3M8 (STARD13) R P 383 rs34425674 Benign
68649 Q9Y3M8 (STARD13) N S 798 rs35144435 Benign
68650 Q9Y3M9 (ZNF337) V I 17 rs926487 Benign
68651 Q9Y3M9 (ZNF337) R G 467 rs16987972 Benign
68652 Q9Y3N9 (OR2W1) M V 81 rs34892006 Benign
68653 Q9Y3N9 (OR2W1) D N 296 rs35771565 Benign
68654 Q9Y3P4 (RHBDD3) T M 86 rs2272902 Benign
68655 Q9Y3P4 (RHBDD3) H R 227 rs2231397 Benign
68656 Q9Y3Q0 (NAALAD2) V I 101 rs11018879 Benign
68657 Q9Y3Q0 (NAALAD2) I V 446 rs10830430 Benign
68658 Q9Y3Q3 (TMED3) D N 86 rs3784543 Benign
68659 Q9Y3Q4 (HCN4) A V 485 rs1454748709 Disease: Sick sinus syndrome 2 (SSS2) [MIM:163800]
68660 Q9Y3Q4 (HCN4) D N 553 rs104894485 Disease: Sick sinus syndrome 2 (SSS2) [MIM:163800]
68661 Q9Y3Q4 (HCN4) S R 672 rs104894488 Disease: Sick sinus syndrome 2 (SSS2) [MIM:163800]
68662 Q9Y3Q7 (ADAM18) V F 212 rs10093794 Benign
68663 Q9Y3R0 (GRIP1) A T 322 rs17102531 Benign
68664 Q9Y3R4 (NEU2) S R 11 rs2233384 Benign
68665 Q9Y3R4 (NEU2) R Q 41 rs2233385 Benign
68666 Q9Y3R4 (NEU2) A T 145 rs2233390 Benign
68667 Q9Y3R4 (NEU2) H N 168 rs2233391 Benign
68668 Q9Y3R4 (NEU2) R Q 182 rs2233393 Benign
68669 Q9Y3R5 (DOP1B) S W 1021 rs7278340 Benign
68670 Q9Y3R5 (DOP1B) C G 1118 rs4817788 Benign
68671 Q9Y3R5 (DOP1B) P H 1149 rs3746866 Benign
68672 Q9Y3R5 (DOP1B) R S 1217 rs3746867 Benign
68673 Q9Y3R5 (DOP1B) G E 2139 rs3827183 Benign
68674 Q9Y3S1 (WNK2) V M 828 rs10761203 Benign
68675 Q9Y3S1 (WNK2) R L 974 rs10114908 Benign
68676 Q9Y3S2 (ZNF330) T A 28 rs35353789 Benign
68677 Q9Y3S2 (ZNF330) L M 298 rs34631212 Benign
68678 Q9Y3T6 (R3HCC1) A T 96 rs6980542 Benign
68679 Q9Y3T6 (R3HCC1) R K 145 rs3808536 Benign
68680 Q9Y3T6 (R3HCC1) V M 307 rs2272761 Benign
68681 Q9Y3T6 (R3HCC1) L R 363 rs13530 Benign
68682 Q9Y3T9 (NOC2L) A V 271 rs3828049 Benign
68683 Q9Y3T9 (NOC2L) I V 300 rs3748597 Benign
68684 Q9Y3T9 (NOC2L) S L 556 rs35471880 Benign
68685 Q9Y3U8 (RPL36) K E 67 rs11556110 Benign
68686 Q9Y3V2 (RWDD3) V A 47 rs259358 Benign
68687 Q9Y3V2 (RWDD3) N K 86 rs2296308 Benign
68688 Q9Y3X0 (CCDC9) E D 215 rs2032811 Benign
68689 Q9Y3X0 (CCDC9) A V 456 rs35119724 Benign
68690 Q9Y3X0 (CCDC9) L P 478 rs888836 Benign
68691 Q9Y3Y4 (PYGO1) P H 299 rs11858624 Benign
68692 Q9Y3Z3 (SAMHD1) H P 123 rs121434520 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68693 Q9Y3Z3 (SAMHD1) R C 143 rs387906948 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68694 Q9Y3Z3 (SAMHD1) R H 143 rs369035155 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68695 Q9Y3Z3 (SAMHD1) R Q 145 rs515726145 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68696 Q9Y3Z3 (SAMHD1) H Y 167 - Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68697 Q9Y3Z3 (SAMHD1) I N 201 rs138603088 Disease: Chilblain lupus 2 (CHBL2) [MIM:614415]
68698 Q9Y3Z3 (SAMHD1) G S 209 rs121434516 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68699 Q9Y3Z3 (SAMHD1) M V 254 rs121434521 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68700 Q9Y3Z3 (SAMHD1) R H 290 rs559553527 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68701 Q9Y3Z3 (SAMHD1) L S 369 rs515726139 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68702 Q9Y3Z3 (SAMHD1) M V 385 rs515726140 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68703 Q9Y3Z3 (SAMHD1) I T 448 rs774964432 Disease: Aicardi- Goutieres syndrome 5 (AGS5) [MIM:612952]
68704 Q9Y426 (C2CD2) V A 211 rs2839421 Benign
68705 Q9Y426 (C2CD2) T A 618 rs9981024 Benign
68706 Q9Y442 (C22orf24) H L 11 rs1984388 Benign
68707 Q9Y448 (KNSTRN) S F 24 rs868438023 Benign
68708 Q9Y448 (KNSTRN) A E 40 rs7164132 Benign
68709 Q9Y448 (KNSTRN) R L 75 rs7169404 Benign
68710 Q9Y448 (KNSTRN) P S 92 rs7169262 Benign
68711 Q9Y450 (HBS1L) G S 440 rs4435957 Benign
68712 Q9Y458 (TBX22) G C 118 rs104894944 Disease: Cleft palate with or without ankyloglossi a, X-linked (CPX) [MIM:303400]
68713 Q9Y458 (TBX22) M V 121 - Disease: Cleft palate with or without ankyloglossi a, X-linked (CPX) [MIM:303400]
68714 Q9Y458 (TBX22) P L 183 - Disease: Cleft palate with or without ankyloglossi a, X-linked (CPX) [MIM:303400]
68715 Q9Y458 (TBX22) E K 187 rs34244923 Benign
68716 Q9Y458 (TBX22) L P 214 rs104894946 Disease: Cleft palate with or without ankyloglossi a, X-linked (CPX) [MIM:303400]
68717 Q9Y458 (TBX22) F Y 249 - Benign
68718 Q9Y458 (TBX22) T M 260 rs104894943 Disease: Cleft palate with or without ankyloglossi a, X-linked (CPX) [MIM:303400]
68719 Q9Y458 (TBX22) N Y 264 rs28935177 Disease: Cleft palate with or without ankyloglossi a, X-linked (CPX) [MIM:303400]
68720 Q9Y462 (ZNF711) T A 221 rs148609081 Benign
68721 Q9Y462 (ZNF711) I T 244 rs1060505033 Disease: Mental retardation, X-linked 97 (MRX97) [MIM:300803]
68722 Q9Y462 (ZNF711) M T 524 rs368788919 Benign
68723 Q9Y463 (DYRK1B) L P 28 rs34587974 Benign
68724 Q9Y463 (DYRK1B) H P 90 rs587777380 Disease: Abdominal obesity- metabolic syndrome 3 (AOMS3) [MIM:615812]
68725 Q9Y463 (DYRK1B) R H 102 rs55687541 Benign
68726 Q9Y463 (DYRK1B) R C 102 rs367643250 Disease: Abdominal obesity- metabolic syndrome 3 (AOMS3) [MIM:615812]
68727 Q9Y463 (DYRK1B) S G 234 rs35858874 Benign
68728 Q9Y467 (SALL2) S C 75 rs2242527 Benign
68729 Q9Y467 (SALL2) P S 122 rs1263811 Benign
68730 Q9Y467 (SALL2) G R 746 rs1263810 Benign
68731 Q9Y468 (L3MBTL1) S T 117 rs17857202 Benign
68732 Q9Y468 (L3MBTL1) I M 547 rs6017104 Benign
68733 Q9Y473 (ZNF175) Y N 363 rs60097262 Benign
68734 Q9Y473 (ZNF175) C R 505 rs3764548 Benign
68735 Q9Y473 (ZNF175) K R 622 - Benign
68736 Q9Y483 (MTF2) S C 140 rs2815427 Benign
68737 Q9Y485 (DMXL1) I M 221 rs7700801 Benign
68738 Q9Y485 (DMXL1) S N 851 rs4895362 Benign
68739 Q9Y485 (DMXL1) V M 2067 rs9790916 Benign
68740 Q9Y485 (DMXL1) T S 2107 rs9791092 Benign
68741 Q9Y487 (ATP6V0A2) R Q 685 rs7969410 Benign
68742 Q9Y487 (ATP6V0A2) A V 813 rs17883456 Benign
68743 Q9Y490 (TLN1) S L 1227 rs2295795 Benign
68744 Q9Y490 (TLN1) R W 1919 rs17854239 Benign
68745 Q9Y490 (TLN1) A T 1984 rs35642290 Benign
68746 Q9Y493 (ZAN) L F 16 rs12673246 Benign
68747 Q9Y493 (ZAN) G A 113 rs34828430 Benign
68748 Q9Y493 (ZAN) G S 412 rs17162408 Benign
68749 Q9Y493 (ZAN) Q H 430 rs221833 Benign
68750 Q9Y493 (ZAN) S T 690 rs13241461 Benign
68751 Q9Y493 (ZAN) L R 1012 rs6942733 Benign
68752 Q9Y493 (ZAN) F C 1096 rs221823 Benign
68753 Q9Y493 (ZAN) A T 1375 rs2293767 Benign
68754 Q9Y493 (ZAN) G C 1674 rs10953303 Benign
68755 Q9Y493 (ZAN) L P 1698 rs10247980 Benign
68756 Q9Y493 (ZAN) C R 1742 rs17147735 Benign
68757 Q9Y493 (ZAN) P S 1878 rs314298 Benign
68758 Q9Y493 (ZAN) C Y 1903 rs12673041 Benign
68759 Q9Y493 (ZAN) H C 1922 rs314299 Benign
68760 Q9Y493 (ZAN) F L 1969 rs542137 Benign
68761 Q9Y493 (ZAN) I M 1995 rs541275 Benign
68762 Q9Y493 (ZAN) S T 2035 rs539445 Benign
68763 Q9Y493 (ZAN) N S 2073 rs314300 Benign
68764 Q9Y493 (ZAN) L P 2111 rs531503 Benign
68765 Q9Y493 (ZAN) Y S 2334 rs60783739 Benign
68766 Q9Y493 (ZAN) L F 2349 rs59541653 Benign
68767 Q9Y493 (ZAN) T M 2527 rs3847059 Benign
68768 Q9Y493 (ZAN) W R 2643 rs314339 Benign
68769 Q9Y496 (KIF3A) K I 172 rs17854353 Benign
68770 Q9Y4A5 (TRRAP) S F 722 rs147405090 Benign
68771 Q9Y4A5 (TRRAP) R L 878 rs17161510 Benign
68772 Q9Y4A5 (TRRAP) I M 1031 - Disease: Developmenta l delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454]
68773 Q9Y4A5 (TRRAP) A T 1043 rs1562945106 Disease: Developmenta l delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454]
68774 Q9Y4A5 (TRRAP) S G 1070 rs55920979 Benign
68775 Q9Y4A5 (TRRAP) E G 1104 - Disease: Developmenta l delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454]
68776 Q9Y4A5 (TRRAP) E K 1106 - Disease: Developmenta l delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454]
68777 Q9Y4A5 (TRRAP) G R 1159 - Disease: Developmenta l delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454]
68778 Q9Y4A5 (TRRAP) R C 1859 - Disease: Developmenta l delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454]
68779 Q9Y4A5 (TRRAP) W R 1866 rs1562957569 Disease: Developmenta l delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454]
68780 Q9Y4A5 (TRRAP) G R 1883 - Disease: Developmenta l delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454]
68781 Q9Y4A5 (TRRAP) A V 1925 rs56197298 Benign
68782 Q9Y4A5 (TRRAP) W G 2139 rs34185633 Benign
68783 Q9Y4A5 (TRRAP) S G 2433 rs35634065 Benign
68784 Q9Y4A5 (TRRAP) E D 2750 rs55755466 Benign
68785 Q9Y4A5 (TRRAP) K E 2801 rs56341061 Benign
68786 Q9Y4A8 (NFE2L3) V E 441 rs2072129 Benign
68787 Q9Y4A9 (OR10H1) G R 16 rs4808383 Benign
68788 Q9Y4A9 (OR10H1) A V 65 rs4808382 Benign
68789 Q9Y4A9 (OR10H1) H Q 175 rs1859298 Benign
68790 Q9Y4B4 (RAD54L2) F L 1369 rs35712917 Benign
68791 Q9Y4B5 (MTCL1) M T 602 rs35739383 Benign
68792 Q9Y4B5 (MTCL1) Q R 861 rs1965665 Benign
68793 Q9Y4B5 (MTCL1) D G 898 rs3744979 Benign
68794 Q9Y4B5 (MTCL1) G S 1097 rs12386117 Benign
68795 Q9Y4B5 (MTCL1) K Q 1211 rs11874468 Benign
68796 Q9Y4B6 (DCAF1) N D 267 rs3749318 Benign
68797 Q9Y4B6 (DCAF1) L F 378 rs17712228 Benign
68798 Q9Y4B6 (DCAF1) L P 1031 rs9835229 Benign
68799 Q9Y4C1 (KDM3A) E K 194 rs13424350 Benign
68800 Q9Y4C1 (KDM3A) I V 212 rs2030259 Benign
68801 Q9Y4C1 (KDM3A) S P 447 rs34605051 Benign
68802 Q9Y4C1 (KDM3A) V E 710 rs11677451 Benign
68803 Q9Y4C4 (MFHAS1) L V 163 rs34984230 Benign
68804 Q9Y4C4 (MFHAS1) L P 892 rs429433 Benign
68805 Q9Y4C8 (RBM19) Q E 602 rs7299217 Benign
68806 Q9Y4C8 (RBM19) H R 609 rs2290789 Benign
68807 Q9Y4C8 (RBM19) I T 623 rs2290788 Benign
68808 Q9Y4C8 (RBM19) T A 665 rs2290787 Benign
68809 Q9Y4C8 (RBM19) R G 821 rs16943379 Benign
68810 Q9Y4C8 (RBM19) R Q 921 rs2075387 Benign
68811 Q9Y4D2 (DAGLA) G V 735 rs35056845 Benign
68812 Q9Y4D2 (DAGLA) P L 889 rs3741252 Benign
68813 Q9Y4D2 (DAGLA) D E 945 rs34956386 Benign
68814 Q9Y4D7 (PLXND1) P S 617 rs2285372 Benign
68815 Q9Y4D7 (PLXND1) M V 870 rs2255703 Benign
68816 Q9Y4D7 (PLXND1) H R 894 rs2625962 Benign
68817 Q9Y4D7 (PLXND1) L V 1412 rs2625973 Benign
68818 Q9Y4D7 (PLXND1) S N 1542 rs2713625 Benign
68819 Q9Y4F1 (FARP1) P L 8 rs9300466 Benign
68820 Q9Y4F4 (TOGARAM1) E Q 416 rs3825629 Benign
68821 Q9Y4F4 (TOGARAM1) L V 511 rs3742591 Benign
68822 Q9Y4F9 (RIPOR2) A G 145 rs11967003 Benign
68823 Q9Y4F9 (RIPOR2) V M 320 rs35331811 Benign
68824 Q9Y4F9 (RIPOR2) E K 424 rs34016544 Benign
68825 Q9Y4F9 (RIPOR2) S C 452 rs34298086 Benign
68826 Q9Y4F9 (RIPOR2) E K 495 rs35514577 Benign
68827 Q9Y4F9 (RIPOR2) R C 520 rs35780910 Benign
68828 Q9Y4F9 (RIPOR2) R Q 868 rs9461073 Benign
68829 Q9Y4G2 (PLEKHM1) R H 377 rs1859059 Benign
68830 Q9Y4G6 (TLN2) V A 340 rs11634784 Benign
68831 Q9Y4G6 (TLN2) A S 1148 rs2280279 Benign
68832 Q9Y4G6 (TLN2) A T 1148 rs2280279 Benign
68833 Q9Y4G6 (TLN2) V I 1877 rs7182971 Benign
68834 Q9Y4G6 (TLN2) T I 2144 rs11633796 Benign
68835 Q9Y4G6 (TLN2) F L 2266 rs3816988 Benign
68836 Q9Y4H2 (IRS2) H Y 789 rs35223808 Benign
68837 Q9Y4H2 (IRS2) G S 879 rs549588978 Benign
68838 Q9Y4H2 (IRS2) G A 882 rs201499247 Benign
68839 Q9Y4H2 (IRS2) V M 999 rs35927012 Benign
68840 Q9Y4H2 (IRS2) G D 1057 rs1805097 Benign
68841 Q9Y4I1 (MYO5A) M T 627 rs16964944 Benign
68842 Q9Y4I1 (MYO5A) R C 1246 rs1058219 Benign
68843 Q9Y4I1 (MYO5A) S L 1673 rs9282796 Benign
68844 Q9Y4I5 (TESMIN) C R 223 rs12365708 Benign
68845 Q9Y4I5 (TESMIN) V A 260 rs35773957 Benign
68846 Q9Y4J8 (DTNA) A E 180 rs1048081 Benign
68847 Q9Y4K0 (LOXL2) S W 359 rs4602894 Benign
68848 Q9Y4K0 (LOXL2) M L 570 rs1063582 Benign
68849 Q9Y4K1 (CRYBG1) G D 267 rs11968933 Benign
68850 Q9Y4K1 (CRYBG1) Q P 293 rs1159148 Benign
68851 Q9Y4K1 (CRYBG1) C R 491 rs3747787 Benign
68852 Q9Y4K1 (CRYBG1) L V 1096 rs1350902 Benign
68853 Q9Y4K1 (CRYBG1) E A 1196 rs783396 Benign
68854 Q9Y4K1 (CRYBG1) C Y 1395 rs2297970 Benign
68855 Q9Y4K1 (CRYBG1) T S 1445 rs1676015 Benign
68856 Q9Y4K4 (MAP4K5) H Y 41 rs34726242 Benign
68857 Q9Y4K4 (MAP4K5) A T 334 rs12881869 Benign
68858 Q9Y4K4 (MAP4K5) P L 407 rs34818002 Benign
68859 Q9Y4K4 (MAP4K5) I V 446 rs55815015 Benign
68860 Q9Y4K4 (MAP4K5) K N 473 rs35768475 Benign
68861 Q9Y4K4 (MAP4K5) R Q 552 rs55997280 Benign
68862 Q9Y4K4 (MAP4K5) T M 633 rs17780143 Benign
68863 Q9Y4L5 (RNF115) G R 194 rs11577731 Benign
68864 Q9Y4P1 (ATG4B) L Q 354 rs7601000 Benign
68865 Q9Y4P3 (TBL2) V I 345 rs35607697 Benign
68866 Q9Y4P8 (WIPI2) V M 249 - Disease: Intellectual developmenta l disorder with short stature and variable skeletal anomalies (IDDSSA) [MIM:618453]
68867 Q9Y4R7 (TTLL3) E K 174 rs3806669 Benign
68868 Q9Y4R7 (TTLL3) N H 418 rs2290302 Benign
68869 Q9Y4R7 (TTLL3) M R 502 rs2290305 Benign
68870 Q9Y4R7 (TTLL3) A T 689 rs1057278 Benign
68871 Q9Y4R8 (TELO2) E G 7 rs2667661 Benign
68872 Q9Y4R8 (TELO2) E Q 7 rs2667660 Benign
68873 Q9Y4R8 (TELO2) Q R 146 rs2235624 Benign
68874 Q9Y4R8 (TELO2) P L 260 rs369656775 Disease: You-Hoover- Fong syndrome (YHFS) [MIM:616954]
68875 Q9Y4R8 (TELO2) C F 367 rs202020308 Disease: You-Hoover- Fong syndrome (YHFS) [MIM:616954]
68876 Q9Y4R8 (TELO2) A V 511 rs58099766 Benign
68877 Q9Y4R8 (TELO2) R H 609 rs754162070 Disease: You-Hoover- Fong syndrome (YHFS) [MIM:616954]
68878 Q9Y4R8 (TELO2) Q R 674 rs2248128 Benign
68879 Q9Y4R8 (TELO2) D V 720 rs878853271 Disease: You-Hoover- Fong syndrome (YHFS) [MIM:616954]
68880 Q9Y4R8 (TELO2) V M 766 rs371675497 Disease: You-Hoover- Fong syndrome (YHFS) [MIM:616954]
68881 Q9Y4U1 (MMACHC) Q R 27 rs546099787 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68882 Q9Y4U1 (MMACHC) L P 116 rs121918240 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68883 Q9Y4U1 (MMACHC) H R 122 - Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68884 Q9Y4U1 (MMACHC) Y H 130 rs372670428 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68885 Q9Y4U1 (MMACHC) G A 147 rs140522266 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68886 Q9Y4U1 (MMACHC) G D 147 rs140522266 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68887 Q9Y4U1 (MMACHC) G D 156 rs1553162910 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68888 Q9Y4U1 (MMACHC) W C 157 rs1002571805 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68889 Q9Y4U1 (MMACHC) R G 161 rs370596113 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68890 Q9Y4U1 (MMACHC) R Q 161 rs121918243 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68891 Q9Y4U1 (MMACHC) R S 189 rs200895671 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68892 Q9Y4U1 (MMACHC) L P 193 rs1233135084 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68893 Q9Y4U1 (MMACHC) R P 206 rs371753672 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68894 Q9Y4U1 (MMACHC) R W 206 rs538023671 Disease: Methylmaloni c aciduria and homocystinur ia, cblC type (MAHCC) [MIM:277400]
68895 Q9Y4U1 (MMACHC) S G 271 rs35219601 Benign
68896 Q9Y4W6 (AFG3L2) N T 432 rs151344512 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68897 Q9Y4W6 (AFG3L2) Y C 616 rs387906889 Disease: Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487]
68898 Q9Y4W6 (AFG3L2) T I 654 rs151344513 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68899 Q9Y4W6 (AFG3L2) M R 666 rs151344515 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68900 Q9Y4W6 (AFG3L2) M T 666 rs151344515 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68901 Q9Y4W6 (AFG3L2) M V 666 rs151344514 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68902 Q9Y4W6 (AFG3L2) G E 671 rs151344518 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68903 Q9Y4W6 (AFG3L2) G R 671 rs151344517 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68904 Q9Y4W6 (AFG3L2) Y H 689 - Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68905 Q9Y4W6 (AFG3L2) Y N 689 - Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68906 Q9Y4W6 (AFG3L2) E K 691 rs151344520 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68907 Q9Y4W6 (AFG3L2) A E 694 rs151344521 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68908 Q9Y4W6 (AFG3L2) E K 700 rs151344522 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68909 Q9Y4W6 (AFG3L2) R Q 702 rs151344523 Disease: Spinocerebel lar ataxia 28 (SCA28) [MIM:610246]
68910 Q9Y4X0 (AMMECR1) G D 177 rs1057519337 Disease: Midface hypoplasia, hearing impairment, elliptocytos is, and nephrocalcin osis (MFHIEN) [MIM:300990]
68911 Q9Y4X3 (CCL27) I V 78 rs11575594 Benign
68912 Q9Y4X3 (CCL27) L F 96 rs11575584 Benign
68913 Q9Y4X5 (ARIH1) E Q 15 - Disease: -
68914 Q9Y4X5 (ARIH1) E G 44 - Disease: -
68915 Q9Y4Z2 (NEUROG3) R L 93 rs121917838 Disease: Diarrhea 4, malabsorptiv e, congenital (DIAR4) [MIM:610370]
68916 Q9Y4Z2 (NEUROG3) R S 107 rs121917837 Disease: Diarrhea 4, malabsorptiv e, congenital (DIAR4) [MIM:610370]
68917 Q9Y4Z2 (NEUROG3) F S 199 rs4536103 Benign
68918 Q9Y512 (SAMM50) D G 110 rs3761472 Benign
68919 Q9Y512 (SAMM50) I V 345 rs8418 Benign
68920 Q9Y520 (PRRC2C) A T 235 rs10913157 Benign
68921 Q9Y520 (PRRC2C) N K 343 rs36013361 Benign
68922 Q9Y520 (PRRC2C) E G 468 rs704839 Benign
68923 Q9Y520 (PRRC2C) A T 906 rs760644 Benign
68924 Q9Y520 (PRRC2C) P S 959 rs34269512 Benign
68925 Q9Y520 (PRRC2C) S C 1624 rs235468 Benign
68926 Q9Y520 (PRRC2C) P S 1771 rs1687056 Benign
68927 Q9Y520 (PRRC2C) L R 1868 rs3820169 Benign
68928 Q9Y520 (PRRC2C) A T 1885 rs12025905 Benign
68929 Q9Y520 (PRRC2C) P R 1924 rs183523 Benign
68930 Q9Y520 (PRRC2C) T A 2717 rs2421847 Benign
68931 Q9Y543 (HES2) P S 139 rs2235687 Benign
68932 Q9Y561 (LRP12) S G 694 rs16871494 Benign
68933 Q9Y566 (SHANK1) A V 6 rs10423744 Benign
68934 Q9Y566 (SHANK1) V A 1504 rs3745521 Benign
68935 Q9Y572 (RIPK3) E V 260 rs7153640 Benign
68936 Q9Y572 (RIPK3) T M 300 rs34106261 Benign
68937 Q9Y572 (RIPK3) P Q 492 rs3212254 Benign
68938 Q9Y573 (IPP) K R 264 rs28375469 Benign
68939 Q9Y574 (ASB4) V L 17 rs35047380 Benign
68940 Q9Y581 (INSL6) F L 80 rs2149554 Benign
68941 Q9Y585 (OR1A2) L F 244 rs56058341 Benign
68942 Q9Y585 (OR1A2) G C 256 rs2241091 Benign
68943 Q9Y585 (OR1A2) R C 260 rs2469791 Benign
68944 Q9Y585 (OR1A2) W C 293 rs12150427 Benign
68945 Q9Y586 (MAB21L2) E K 49 rs587777513 Disease: Microphthalm ia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
68946 Q9Y586 (MAB21L2) R C 51 rs587777512 Disease: Microphthalm ia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
68947 Q9Y586 (MAB21L2) R G 51 rs587777512 Disease: Microphthalm ia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
68948 Q9Y586 (MAB21L2) R H 51 rs587777511 Disease: Microphthalm ia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
68949 Q9Y586 (MAB21L2) R Q 247 rs587777514 Disease: Microphthalm ia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
68950 Q9Y592 (CEP83) Q R 78 rs2271979 Benign
68951 Q9Y592 (CEP83) L P 87 - Disease: Nephronophth isis 18 (NPHP18) [MIM:615862]
68952 Q9Y592 (CEP83) R P 511 rs587777487 Disease: Nephronophth isis 18 (NPHP18) [MIM:615862]
68953 Q9Y597 (KCTD3) F V 9 rs2275768 Benign
68954 Q9Y5A7 (NUB1) Q R 13 rs2302131 Benign
68955 Q9Y5A9 (YTHDF2) T S 217 rs16838382 Benign
68956 Q9Y5A9 (YTHDF2) P S 454 rs35288745 Benign
68957 Q9Y5B0 (CTDP1) S F 282 rs4799078 Benign
68958 Q9Y5B0 (CTDP1) T M 340 rs2279103 Benign
68959 Q9Y5B0 (CTDP1) P H 519 rs557503 Benign
68960 Q9Y5B0 (CTDP1) L S 755 rs34967023 Benign
68961 Q9Y5C1 (ANGPTL3) K T 63 rs146749211 Benign
68962 Q9Y5C1 (ANGPTL3) E G 91 rs139334976 Benign
68963 Q9Y5C1 (ANGPTL3) L F 127 rs72649573 Benign
68964 Q9Y5C1 (ANGPTL3) L F 164 rs775976787 Benign
68965 Q9Y5C1 (ANGPTL3) N S 173 rs149624466 Benign
68966 Q9Y5C1 (ANGPTL3) M T 259 rs77871363 Benign
68967 Q9Y5C1 (ANGPTL3) R Q 288 rs763904695 Benign
68968 Q9Y5C1 (ANGPTL3) S P 292 rs138899888 Benign
68969 Q9Y5C1 (ANGPTL3) Y S 344 rs1334979946 Benign
68970 Q9Y5C1 (ANGPTL3) E K 375 rs768802285 Benign
68971 Q9Y5C1 (ANGPTL3) Y C 417 rs376210525 Benign
68972 Q9Y5C1 (ANGPTL3) N Y 418 rs4145257 Benign
68973 Q9Y5E1 (PCDHB9) R S 124 rs2740588 Benign
68974 Q9Y5E1 (PCDHB9) S P 174 rs11167742 Benign
68975 Q9Y5E1 (PCDHB9) S G 185 rs17844512 Benign
68976 Q9Y5E1 (PCDHB9) A V 239 rs11167743 Benign
68977 Q9Y5E1 (PCDHB9) K E 414 rs10040383 Benign
68978 Q9Y5E1 (PCDHB9) L M 426 rs2697530 Benign
68979 Q9Y5E2 (PCDHB7) E K 120 rs17286891 Benign
68980 Q9Y5E2 (PCDHB7) E K 187 rs17096946 Benign
68981 Q9Y5E2 (PCDHB7) V L 389 rs2910313 Benign
68982 Q9Y5E2 (PCDHB7) P L 575 rs13189280 Benign
68983 Q9Y5E2 (PCDHB7) L V 576 rs13174866 Benign
68984 Q9Y5E2 (PCDHB7) R W 716 rs2910314 Benign
68985 Q9Y5E3 (PCDHB6) V I 231 rs3776096 Benign
68986 Q9Y5E3 (PCDHB6) L F 232 rs10076554 Benign
68987 Q9Y5E3 (PCDHB6) V A 446 rs246707 Benign
68988 Q9Y5E3 (PCDHB6) H Q 636 rs246703 Benign
68989 Q9Y5E3 (PCDHB6) Y H 747 rs17685621 Benign
68990 Q9Y5E3 (PCDHB6) G D 776 rs17844444 Benign
68991 Q9Y5E4 (PCDHB5) I T 156 rs17096901 Benign
68992 Q9Y5E4 (PCDHB5) S P 720 rs400562 Benign
68993 Q9Y5E5 (PCDHB4) K R 168 rs34350292 Benign
68994 Q9Y5E5 (PCDHB4) P L 255 rs3733697 Benign
68995 Q9Y5E5 (PCDHB4) P S 255 rs3733698 Benign
68996 Q9Y5E5 (PCDHB4) A T 421 rs3776099 Benign
68997 Q9Y5E5 (PCDHB4) T A 553 rs246669 Benign
68998 Q9Y5E6 (PCDHB3) K R 41 rs31849 Benign
68999 Q9Y5E6 (PCDHB3) E K 207 rs12515688 Benign
69000 Q9Y5E6 (PCDHB3) R S 414 rs3733699 Benign
69001 Q9Y5E7 (PCDHB2) V I 128 rs31853 Benign
69002 Q9Y5E7 (PCDHB2) L P 674 rs384081 Benign
69003 Q9Y5E7 (PCDHB2) G D 760 rs1047372 Benign
69004 Q9Y5E8 (PCDHB15) S R 474 rs618506 Benign
69005 Q9Y5E8 (PCDHB15) R Q 494 rs618096 Benign
69006 Q9Y5F0 (PCDHB13) R G 471 rs2910329 Benign
69007 Q9Y5F1 (PCDHB12) T I 420 rs2910327 Benign
69008 Q9Y5F1 (PCDHB12) K E 763 rs2910006 Benign
69009 Q9Y5F2 (PCDHB11) Q R 4 rs3756323 Benign
69010 Q9Y5F2 (PCDHB11) R H 7 rs917535 Benign
69011 Q9Y5F2 (PCDHB11) D E 528 rs799834 Benign
69012 Q9Y5F3 (PCDHB1) F L 385 rs2233591 Benign
69013 Q9Y5F3 (PCDHB1) L F 390 rs2233592 Benign
69014 Q9Y5F3 (PCDHB1) A V 524 rs17208383 Benign
69015 Q9Y5F3 (PCDHB1) T I 611 rs10476822 Benign
69016 Q9Y5F3 (PCDHB1) I T 712 rs31738 Benign
69017 Q9Y5F3 (PCDHB1) K I 719 rs2233595 Benign
69018 Q9Y5F3 (PCDHB1) F L 778 rs246679 Benign
69019 Q9Y5F6 (PCDHGC5) G S 275 rs2233603 Benign
69020 Q9Y5F6 (PCDHGC5) D G 570 rs2074912 Benign
69021 Q9Y5F8 (PCDHGB7) V L 405 rs17208397 Benign
69022 Q9Y5F9 (PCDHGB6) P S 684 rs3749768 Benign
69023 Q9Y5F9 (PCDHGB6) A T 722 rs3749767 Benign
69024 Q9Y5F9 (PCDHGB6) S A 775 rs6891442 Benign
69025 Q9Y5G0 (PCDHGB5) G S 188 rs6867460 Benign
69026 Q9Y5G1 (PCDHGB3) F Y 20 rs6860590 Benign
69027 Q9Y5G1 (PCDHGB3) A V 28 rs6860609 Benign
69028 Q9Y5G1 (PCDHGB3) N K 389 rs2240697 Benign
69029 Q9Y5G2 (PCDHGB2) P R 26 rs17097231 Benign
69030 Q9Y5G2 (PCDHGB2) V I 58 rs13171859 Benign
69031 Q9Y5G2 (PCDHGB2) K E 687 rs57735633 Benign
69032 Q9Y5G4 (PCDHGA9) L F 791 rs17097274 Benign
69033 Q9Y5G5 (PCDHGA8) L R 16 rs726684 Benign
69034 Q9Y5G5 (PCDHGA8) N K 187 rs11575958 Benign
69035 Q9Y5G6 (PCDHGA7) E G 188 rs2072315 Benign
69036 Q9Y5G6 (PCDHGA7) L F 212 rs2240698 Benign
69037 Q9Y5G6 (PCDHGA7) T M 239 rs17097251 Benign
69038 Q9Y5G7 (PCDHGA6) R S 248 rs11575953 Benign
69039 Q9Y5G9 (PCDHGA4) A T 181 rs11575949 Benign
69040 Q9Y5G9 (PCDHGA4) R K 672 rs4329068 Benign
69041 Q9Y5G9 (PCDHGA4) D H 714 rs11575951 Benign
69042 Q9Y5H0 (PCDHGA3) P S 79 rs11575947 Benign
69043 Q9Y5H0 (PCDHGA3) I L 154 rs11575948 Benign
69044 Q9Y5H0 (PCDHGA3) A V 743 rs7736541 Benign
69045 Q9Y5H1 (PCDHGA2) Q R 5 rs6878145 Benign
69046 Q9Y5H2 (PCDHGA11) F L 104 rs11167744 Benign
69047 Q9Y5H3 (PCDHGA10) I V 89 rs4912751 Benign
69048 Q9Y5H3 (PCDHGA10) S P 796 rs11575963 Benign
69049 Q9Y5H4 (PCDHGA1) V I 152 rs2472647 Benign
69050 Q9Y5H4 (PCDHGA1) H Q 282 rs17097185 Benign
69051 Q9Y5H5 (PCDHA9) S R 28 rs251353 Benign
69052 Q9Y5H5 (PCDHA9) F L 64 rs56926451 Benign
69053 Q9Y5H5 (PCDHA9) K R 138 rs364101 Benign
69054 Q9Y5H5 (PCDHA9) L V 336 rs251354 Benign
69055 Q9Y5H5 (PCDHA9) G R 430 rs251355 Benign
69056 Q9Y5H5 (PCDHA9) E Q 501 rs59056023 Benign
69057 Q9Y5H5 (PCDHA9) K Q 764 rs369636 Benign
69058 Q9Y5H5 (PCDHA9) K T 764 rs369639 Benign
69059 Q9Y5H6 (PCDHA8) S N 78 rs3756331 Benign
69060 Q9Y5H6 (PCDHA8) P R 269 rs525886 Benign
69061 Q9Y5H6 (PCDHA8) K E 579 rs6580012 Benign
69062 Q9Y5H7 (PCDHA5) A V 691 rs4141841 Benign
69063 Q9Y5H8 (PCDHA3) P Q 61 rs7731327 Benign
69064 Q9Y5H8 (PCDHA3) I T 289 rs3733709 Benign
69065 Q9Y5H8 (PCDHA3) I V 318 rs3733708 Benign
69066 Q9Y5H8 (PCDHA3) S I 440 rs7701755 Benign
69067 Q9Y5H8 (PCDHA3) C Y 759 rs2240694 Benign
69068 Q9Y5H9 (PCDHA2) E K 25 rs9686540 Benign
69069 Q9Y5H9 (PCDHA2) V L 106 rs11167600 Benign
69070 Q9Y5H9 (PCDHA2) P L 764 rs6858913 Benign
69071 Q9Y5I1 (PCDHA11) S Y 199 rs10071369 Benign
69072 Q9Y5I1 (PCDHA11) W S 418 rs17119218 Benign
69073 Q9Y5I2 (PCDHA10) S R 439 rs251362 Benign
69074 Q9Y5I2 (PCDHA10) V G 585 rs251364 Benign
69075 Q9Y5I2 (PCDHA10) T A 639 rs630162 Benign
69076 Q9Y5I3 (PCDHA1) R G 360 rs34575154 Benign
69077 Q9Y5I3 (PCDHA1) N H 449 rs3733712 Benign
69078 Q9Y5I3 (PCDHA1) Y C 732 rs2240696 Benign
69079 Q9Y5I3 (PCDHA1) C F 759 rs2240695 Benign
69080 Q9Y5I7 (CLDN16) M R 71 rs104893724 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69081 Q9Y5I7 (CLDN16) H D 141 - Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69082 Q9Y5I7 (CLDN16) L P 145 rs104893731 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69083 Q9Y5I7 (CLDN16) R L 149 rs968906940 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69084 Q9Y5I7 (CLDN16) L F 151 rs104893729 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69085 Q9Y5I7 (CLDN16) L P 151 - Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69086 Q9Y5I7 (CLDN16) L W 151 rs104893730 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69087 Q9Y5I7 (CLDN16) L P 167 rs104893725 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69088 Q9Y5I7 (CLDN16) G R 191 rs104893722 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69089 Q9Y5I7 (CLDN16) G A 198 - Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69090 Q9Y5I7 (CLDN16) G D 198 rs104893723 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69091 Q9Y5I7 (CLDN16) A T 209 rs1270704258 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69092 Q9Y5I7 (CLDN16) R T 216 - Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69093 Q9Y5I7 (CLDN16) F C 232 rs104893726 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69094 Q9Y5I7 (CLDN16) G D 233 rs104893727 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69095 Q9Y5I7 (CLDN16) S F 235 rs104893728 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69096 Q9Y5I7 (CLDN16) S P 235 - Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69097 Q9Y5I7 (CLDN16) G R 239 rs104893721 Disease: Hypomagnesem ia 3 (HOMG3) [MIM:248250]
69098 Q9Y5J5 (PHLDA3) R Q 28 rs35383942 Benign
69099 Q9Y5J6 (TIMM10B) A S 66 rs60702727 Benign
69100 Q9Y5J6 (TIMM10B) G S 90 rs17850713 Benign
69101 Q9Y5K1 (SPO11) T A 36 rs28368062 Benign
69102 Q9Y5K1 (SPO11) M V 91 rs3736832 Benign
69103 Q9Y5K1 (SPO11) A V 202 rs17406460 Benign
69104 Q9Y5K1 (SPO11) R W 211 rs28368082 Benign
69105 Q9Y5K2 (KLK4) S A 22 rs1654551 Benign
69106 Q9Y5K2 (KLK4) G D 159 rs34626614 Benign
69107 Q9Y5K2 (KLK4) H Q 197 rs2569527 Benign
69108 Q9Y5K5 (UCHL5) I F 197 - Benign
69109 Q9Y5K6 (CD2AP) N K 581 rs34069459 Benign
69110 Q9Y5L0 (TNPO3) R P 818 rs587777431 Disease: Muscular dystrophy, limb-girdle, autosomal dominant 2 (LGMDD2) [MIM:608423]
69111 Q9Y5L3 (ENTPD2) A V 103 rs34618694 Benign
69112 Q9Y5M8 (SRPRB) V L 9 rs1107413 Benign
69113 Q9Y5N5 (N6AMT1) D N 34 rs1997607 Benign
69114 Q9Y5N5 (N6AMT1) R K 146 rs2205447 Benign
69115 Q9Y5N5 (N6AMT1) R K 166 rs2205446 Benign
69116 Q9Y5N6 (ORC6) R W 32 rs3218744 Benign
69117 Q9Y5N6 (ORC6) P Q 138 rs3218745 Benign
69118 Q9Y5N6 (ORC6) Y S 232 rs387906969 Disease: Meier-Gorlin syndrome 3 (MGORS3) [MIM:613803]
69119 Q9Y5P0 (OR51B4) V I 36 rs7118113 Benign
69120 Q9Y5P0 (OR51B4) M T 147 rs10837771 Benign
69121 Q9Y5P1 (OR51B2) C R 120 rs7952293 Benign
69122 Q9Y5P1 (OR51B2) L F 134 rs10837814 Benign
69123 Q9Y5P1 (OR51B2) C S 209 rs7937237 Benign
69124 Q9Y5P1 (OR51B2) P S 283 rs11036815 Benign
69125 Q9Y5P1 (OR51B2) S R 312 rs11036814 Benign
69126 Q9Y5P3 (RAI2) M V 252 rs6527818 Benign
69127 Q9Y5P3 (RAI2) A P 342 rs17855524 Benign
69128 Q9Y5P4 (CERT1) S L 132 rs1064794019 Disease: Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351]
69129 Q9Y5P4 (CERT1) G R 243 - Disease: Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351]
69130 Q9Y5P4 (CERT1) K R 599 rs55882089 Benign
69131 Q9Y5P6 (GMPPB) P S 22 rs397509424 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69132 Q9Y5P6 (GMPPB) D H 27 rs142336618 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69133 Q9Y5P6 (GMPPB) P L 32 rs397509426 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B14 (MDDGB14) [MIM:615351]
69134 Q9Y5P6 (GMPPB) P S 32 - Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69135 Q9Y5P6 (GMPPB) H D 126 rs34345884 Benign
69136 Q9Y5P6 (GMPPB) S C 132 rs145535498 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69137 Q9Y5P6 (GMPPB) Q R 184 rs1466685 Benign
69138 Q9Y5P6 (GMPPB) R C 185 rs397509425 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B14 (MDDGB14) [MIM:615351]
69139 Q9Y5P6 (GMPPB) I T 219 rs761714818 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69140 Q9Y5P6 (GMPPB) P S 241 - Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69141 Q9Y5P6 (GMPPB) V M 254 rs875989850 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69142 Q9Y5P6 (GMPPB) R Q 287 rs202160208 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69143 Q9Y5P6 (GMPPB) R W 287 rs142908436 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69144 Q9Y5P6 (GMPPB) R W 293 rs756682220 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69145 Q9Y5P6 (GMPPB) V A 318 rs559784211 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69146 Q9Y5P6 (GMPPB) N K 322 rs781114909 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69147 Q9Y5P6 (GMPPB) V I 330 rs199922550 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69148 Q9Y5P6 (GMPPB) D N 334 rs397509422 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]
69149 Q9Y5P6 (GMPPB) G R 340 rs1064796834 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69150 Q9Y5P6 (GMPPB) R H 357 rs771861177 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C14 (MDDGC14) [MIM:615352]
69151 Q9Y5P8 (PPP2R3B) D E 163 rs3813594 Benign
69152 Q9Y5P8 (PPP2R3B) A V 519 rs1133520 Benign
69153 Q9Y5Q0 (FADS3) K N 192 rs35479241 Benign
69154 Q9Y5Q0 (FADS3) N K 216 rs34511441 Benign
69155 Q9Y5Q3 (MAFB) S L 54 rs730880014 Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69156 Q9Y5Q3 (MAFB) P L 59 - Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69157 Q9Y5Q3 (MAFB) T P 62 rs387907004 Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69158 Q9Y5Q3 (MAFB) P R 63 - Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69159 Q9Y5Q3 (MAFB) S C 66 - Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69160 Q9Y5Q3 (MAFB) S L 69 rs1555826433 Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69161 Q9Y5Q3 (MAFB) S A 70 rs387907005 Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69162 Q9Y5Q3 (MAFB) S L 70 rs387907006 Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69163 Q9Y5Q3 (MAFB) P L 71 rs387907008 Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69164 Q9Y5Q3 (MAFB) P S 71 rs387907007 Disease: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
69165 Q9Y5Q5 (CORIN) C Y 13 rs2289433 Benign
69166 Q9Y5Q5 (CORIN) K E 317 rs387906894 Disease: Pre-eclampsi a/eclampsia 5 (PEE5) [MIM:614595]
69167 Q9Y5Q5 (CORIN) D G 444 rs13105608 Benign
69168 Q9Y5Q5 (CORIN) S G 472 rs387906895 Disease: Pre-eclampsi a/eclampsia 5 (PEE5) [MIM:614595]
69169 Q9Y5Q5 (CORIN) H R 525 rs11934749 Benign
69170 Q9Y5Q6 (INSL5) Q L 50 rs549148 Benign
69171 Q9Y5Q8 (GTF3C5) D N 445 rs637435 Benign
69172 Q9Y5Q9 (GTF3C3) N S 70 rs11559078 Benign
69173 Q9Y5R2 (MMP24) R H 564 rs751887 Benign
69174 Q9Y5R4 (HEMK1) R Q 192 rs2232250 Benign
69175 Q9Y5R4 (HEMK1) H Q 200 rs2232251 Benign
69176 Q9Y5R5 (DMRT2) A P 381 rs3824419 Benign
69177 Q9Y5R5 (DMRT2) E Q 458 rs17641078 Benign
69178 Q9Y5R6 (DMRT1) S T 45 rs3739583 Benign
69179 Q9Y5R6 (DMRT1) Y S 221 - Benign
69180 Q9Y5R6 (DMRT1) R S 281 - Benign
69181 Q9Y5R6 (DMRT1) P L 295 rs902482318 Benign
69182 Q9Y5S1 (TRPV2) G A 17 rs3813768 Benign
69183 Q9Y5S1 (TRPV2) N S 764 rs8071215 Benign
69184 Q9Y5S2 (CDC42BPB) R Q 555 rs36001612 Benign
69185 Q9Y5S2 (CDC42BPB) R Q 671 rs55948035 Benign
69186 Q9Y5S2 (CDC42BPB) I V 1077 rs34822377 Benign
69187 Q9Y5S2 (CDC42BPB) R K 1203 rs146298297 Benign
69188 Q9Y5S2 (CDC42BPB) S Y 1633 rs56412851 Benign
69189 Q9Y5S8 (NOX1) R H 315 rs2071756 Benign
69190 Q9Y5S8 (NOX1) R K 378 rs35404864 Benign
69191 Q9Y5T4 (DNAJC15) R G 35 rs12015 Benign
69192 Q9Y5T5 (USP16) Q H 141 rs2274802 Benign
69193 Q9Y5U2 (TSSC4) H P 17 rs2234278 Benign
69194 Q9Y5U2 (TSSC4) R Q 124 rs1008265 Benign
69195 Q9Y5U2 (TSSC4) R S 230 rs2234280 Benign
69196 Q9Y5U2 (TSSC4) G R 262 rs2234281 Benign
69197 Q9Y5U2 (TSSC4) H P 274 rs2234283 Benign
69198 Q9Y5U5 (TNFRSF18) T R 43 rs11466676 Benign
69199 Q9Y5U5 (TNFRSF18) E K 64 rs11466687 Benign
69200 Q9Y5U5 (TNFRSF18) D N 83 rs11466688 Benign
69201 Q9Y5U5 (TNFRSF18) V M 173 rs11466693 Benign
69202 Q9Y5U8 (MPC1) L I 36 rs11557064 Benign
69203 Q9Y5U8 (MPC1) L H 79 rs387907238 Disease: Mitochondria l pyruvate carrier deficiency (MPYCD) [MIM:614741]
69204 Q9Y5U8 (MPC1) R W 97 rs387907237 Disease: Mitochondria l pyruvate carrier deficiency (MPYCD) [MIM:614741]
69205 Q9Y5U9 (IER3IP1) V G 21 rs387907011 Disease: Microcephaly , epilepsy, and diabetes syndrome (MEDS) [MIM:614231]
69206 Q9Y5U9 (IER3IP1) L P 78 rs387907012 Disease: Microcephaly , epilepsy, and diabetes syndrome (MEDS) [MIM:614231]
69207 Q9Y5V3 (MAGED1) L M 238 rs12689461 Benign
69208 Q9Y5W3 (KLF2) L P 104 rs3745318 Benign
69209 Q9Y5W3 (KLF2) R P 145 rs45586032 Benign
69210 Q9Y5W8 (SNX13) L S 472 rs35113148 Benign
69211 Q9Y5X0 (SNX10) R L 16 rs779298714 Disease: Osteopetrosi s, autosomal recessive 8 (OPTB8) [MIM:615085]
69212 Q9Y5X0 (SNX10) Y S 32 rs771038257 Disease: Osteopetrosi s, autosomal recessive 8 (OPTB8) [MIM:615085]
69213 Q9Y5X0 (SNX10) R P 51 - Disease: Osteopetrosi s, autosomal recessive 8 (OPTB8) [MIM:615085]
69214 Q9Y5X0 (SNX10) R Q 51 rs398123011 Disease: Osteopetrosi s, autosomal recessive 8 (OPTB8) [MIM:615085]
69215 Q9Y5X0 (SNX10) S I 187 rs1053042 Benign
69216 Q9Y5X4 (NR2E3) S L 44 rs202098481 Benign
69217 Q9Y5X4 (NR2E3) G R 56 rs121912631 Disease: Retinitis pigmentosa 37 (RP37) [MIM:611131]
69218 Q9Y5X4 (NR2E3) R Q 76 rs104894493 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69219 Q9Y5X4 (NR2E3) R W 76 rs104894492 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69220 Q9Y5X4 (NR2E3) G V 88 rs1278137915 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69221 Q9Y5X4 (NR2E3) R H 97 rs1489149705 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69222 Q9Y5X4 (NR2E3) R Q 104 rs766096417 Benign
69223 Q9Y5X4 (NR2E3) R W 104 rs990307718 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69224 Q9Y5X4 (NR2E3) E K 121 rs146403122 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69225 Q9Y5X4 (NR2E3) E G 140 rs1805020 Benign
69226 Q9Y5X4 (NR2E3) M T 163 rs1805021 Benign
69227 Q9Y5X4 (NR2E3) V I 232 rs1805023 Benign
69228 Q9Y5X4 (NR2E3) W S 234 - Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69229 Q9Y5X4 (NR2E3) A E 256 rs377257254 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69230 Q9Y5X4 (NR2E3) L P 263 - Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69231 Q9Y5X4 (NR2E3) G S 287 rs764901119 Benign
69232 Q9Y5X4 (NR2E3) V I 302 rs1805025 Benign
69233 Q9Y5X4 (NR2E3) R G 309 rs774102273 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69234 Q9Y5X4 (NR2E3) R Q 311 rs28937873 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69235 Q9Y5X4 (NR2E3) L P 336 rs752883545 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69236 Q9Y5X4 (NR2E3) L V 353 - Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69237 Q9Y5X4 (NR2E3) R P 385 rs766769900 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69238 Q9Y5X4 (NR2E3) M K 407 rs1303613101 Disease: Enhanced S cone syndrome (ESCS) [MIM:268100]
69239 Q9Y5X9 (LIPG) G S 26 rs9963243 Benign
69240 Q9Y5X9 (LIPG) G S 96 rs150879681 Benign
69241 Q9Y5X9 (LIPG) T I 111 rs2000813 Benign
69242 Q9Y5X9 (LIPG) R H 312 - Benign
69243 Q9Y5Y0 (FLVCR1) A P 52 rs11120047 Benign
69244 Q9Y5Y0 (FLVCR1) N D 121 rs267606820 Disease: Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
69245 Q9Y5Y0 (FLVCR1) C R 192 rs267606821 Disease: Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
69246 Q9Y5Y0 (FLVCR1) P S 221 rs753000469 Disease: -
69247 Q9Y5Y0 (FLVCR1) A T 241 rs267606819 Disease: Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
69248 Q9Y5Y0 (FLVCR1) G R 493 - Disease: Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
69249 Q9Y5Y0 (FLVCR1) T M 544 rs3207090 Benign
69250 Q9Y5Y2 (NUBP2) T A 200 rs57822546 Benign
69251 Q9Y5Y2 (NUBP2) P S 250 rs35030308 Benign
69252 Q9Y5Y2 (NUBP2) T M 266 rs34028164 Benign
69253 Q9Y5Y3 (GPR45) L F 312 rs35946826 Benign
69254 Q9Y5Y4 (PTGDR2) V A 204 rs2467642 Benign
69255 Q9Y5Y5 (PEX16) V M 103 rs11553094 Benign
69256 Q9Y5Y5 (PEX16) V I 116 rs10742772 Benign
69257 Q9Y5Y5 (PEX16) V L 254 rs35214605 Benign
69258 Q9Y5Y5 (PEX16) P T 289 - Disease: Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]
69259 Q9Y5Y5 (PEX16) Y C 331 rs397514472 Disease: Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]
69260 Q9Y5Y6 (ST14) M I 285 rs7126904 Benign
69261 Q9Y5Y6 (ST14) R S 381 rs17667603 Benign
69262 Q9Y5Y6 (ST14) G R 827 rs137852931 Disease: Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400]
69263 Q9Y5Y7 (LYVE1) W R 116 rs17852369 Benign
69264 Q9Y5Y7 (LYVE1) T I 214 rs16907980 Benign
69265 Q9Y5Y7 (LYVE1) V M 315 rs7948666 Benign
69266 Q9Y5Y9 (SCN10A) S P 509 rs7630989 Benign
69267 Q9Y5Y9 (SCN10A) L P 554 rs138404783 Disease: Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551]
69268 Q9Y5Y9 (SCN10A) G R 590 rs35332705 Benign
69269 Q9Y5Y9 (SCN10A) R W 916 rs370208223 Benign
69270 Q9Y5Y9 (SCN10A) P L 939 rs202174472 Benign
69271 Q9Y5Y9 (SCN10A) Q L 940 - Benign
69272 Q9Y5Y9 (SCN10A) D N 1056 rs751574392 Benign
69273 Q9Y5Y9 (SCN10A) V A 1073 rs6795970 Benign
69274 Q9Y5Y9 (SCN10A) L P 1092 rs12632942 Benign
69275 Q9Y5Y9 (SCN10A) A T 1304 rs142173735 Disease: Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551]
69276 Q9Y5Y9 (SCN10A) C Y 1523 rs142217269 Benign
69277 Q9Y5Y9 (SCN10A) G S 1662 rs151090729 Benign
69278 Q9Y5Y9 (SCN10A) M V 1713 rs6599241 Benign
69279 Q9Y5Z4 (HEBP2) R Q 140 rs3734303 Benign
69280 Q9Y5Z4 (HEBP2) E A 191 rs14812 Benign
69281 Q9Y5Z7 (HCFC2) A S 46 rs2700500 Benign
69282 Q9Y5Z7 (HCFC2) G A 268 rs17035206 Benign
69283 Q9Y5Z9 (UBIAD1) S F 75 rs114000606 Benign
69284 Q9Y5Z9 (UBIAD1) A T 97 - Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69285 Q9Y5Z9 (UBIAD1) G S 98 - Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69286 Q9Y5Z9 (UBIAD1) N S 102 rs118203945 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69287 Q9Y5Z9 (UBIAD1) D G 112 rs118203950 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69288 Q9Y5Z9 (UBIAD1) D N 112 - Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69289 Q9Y5Z9 (UBIAD1) D G 118 - Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69290 Q9Y5Z9 (UBIAD1) R G 119 rs118203947 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69291 Q9Y5Z9 (UBIAD1) L F 121 - Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69292 Q9Y5Z9 (UBIAD1) V E 122 - Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69293 Q9Y5Z9 (UBIAD1) V G 122 - Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69294 Q9Y5Z9 (UBIAD1) S P 171 rs118203951 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69295 Q9Y5Z9 (UBIAD1) T I 175 rs118203948 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69296 Q9Y5Z9 (UBIAD1) G E 177 rs397514669 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69297 Q9Y5Z9 (UBIAD1) G R 177 rs118203946 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69298 Q9Y5Z9 (UBIAD1) G R 186 rs118203952 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69299 Q9Y5Z9 (UBIAD1) L H 188 - Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69300 Q9Y5Z9 (UBIAD1) N S 232 rs118203949 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69301 Q9Y5Z9 (UBIAD1) D E 236 rs118203953 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69302 Q9Y5Z9 (UBIAD1) D N 240 rs371811409 Disease: Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
69303 Q9Y603 (ETV7) A T 86 rs9394345 Benign
69304 Q9Y603 (ETV7) H Y 138 rs9470262 Benign
69305 Q9Y603 (ETV7) G S 199 rs34306145 Benign
69306 Q9Y603 (ETV7) P L 212 rs2234079 Benign
69307 Q9Y603 (ETV7) A V 250 rs2234080 Benign
69308 Q9Y606 (PUS1) R W 144 rs104894371 Disease: Myopathy with lactic acidosis and sideroblasti c anemia 1 (MLASA1) [MIM:600462]
69309 Q9Y608 (LRRFIP2) K E 143 rs34902788 Benign
69310 Q9Y615 (ACTL7A) R C 45 rs368653764 Benign
69311 Q9Y615 (ACTL7A) A P 161 rs35995497 Benign
69312 Q9Y615 (ACTL7A) V M 340 rs7872077 Benign
69313 Q9Y615 (ACTL7A) L V 343 rs56031956 Benign
69314 Q9Y616 (IRAK3) P L 22 rs536546109 Benign
69315 Q9Y616 (IRAK3) H R 57 rs35239505 Benign
69316 Q9Y616 (IRAK3) G S 84 rs34443407 Benign
69317 Q9Y616 (IRAK3) P A 111 rs373806603 Benign
69318 Q9Y616 (IRAK3) V M 134 rs138559915 Benign
69319 Q9Y616 (IRAK3) I V 147 rs1152888 Benign
69320 Q9Y616 (IRAK3) I V 171 rs34682166 Benign
69321 Q9Y616 (IRAK3) G S 269 rs35823766 Benign
69322 Q9Y616 (IRAK3) I V 270 rs11465972 Benign
69323 Q9Y616 (IRAK3) S L 288 rs35574245 Benign
69324 Q9Y616 (IRAK3) R Q 384 rs34272472 Benign
69325 Q9Y616 (IRAK3) M T 391 rs35737689 Benign
69326 Q9Y616 (IRAK3) L V 400 rs146120640 Benign
69327 Q9Y616 (IRAK3) R Q 429 rs140671957 Benign
69328 Q9Y616 (IRAK3) D N 482 rs35756811 Benign
69329 Q9Y617 (PSAT1) P A 87 rs11540974 Benign
69330 Q9Y617 (PSAT1) A V 99 rs587777778 Disease: Neu-Laxova syndrome 2 (NLS2) [MIM:616038]
69331 Q9Y617 (PSAT1) D A 100 rs118203967 Disease: Phosphoserin e aminotransfe rase deficiency (PSATD) [MIM:610992]
69332 Q9Y617 (PSAT1) S L 179 rs587777777 Disease: Neu-Laxova syndrome 2 (NLS2) [MIM:616038]
69333 Q9Y618 (NCOR2) G E 781 rs7978237 Benign
69334 Q9Y618 (NCOR2) A T 1699 rs2229840 Benign
69335 Q9Y618 (NCOR2) P S 2001 rs2230944 Benign
69336 Q9Y619 (SLC25A15) G E 27 rs1208994024 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69337 Q9Y619 (SLC25A15) G R 27 rs104894430 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69338 Q9Y619 (SLC25A15) M R 37 rs121908533 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69339 Q9Y619 (SLC25A15) L Q 71 rs121908534 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69340 Q9Y619 (SLC25A15) G C 113 rs199894905 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69341 Q9Y619 (SLC25A15) P R 126 - Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69342 Q9Y619 (SLC25A15) E K 180 rs104894424 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69343 Q9Y619 (SLC25A15) F L 188 rs141028076 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69344 Q9Y619 (SLC25A15) G D 190 rs202247804 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69345 Q9Y619 (SLC25A15) G S 216 rs1417167600 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69346 Q9Y619 (SLC25A15) I L 254 rs17849654 Benign
69347 Q9Y619 (SLC25A15) T I 272 rs121908535 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69348 Q9Y619 (SLC25A15) M K 273 rs202247808 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69349 Q9Y619 (SLC25A15) R Q 275 rs104894431 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69350 Q9Y619 (SLC25A15) L F 283 rs202247809 Disease: Hyperornithi nemia-hypera mmonemia-hom ocitrullinur ia syndrome (HHH syndrome) [MIM:238970]
69351 Q9Y620 (RAD54B) L V 30 rs28910279 Benign
69352 Q9Y620 (RAD54B) D H 97 rs2919661 Benign
69353 Q9Y620 (RAD54B) G E 833 rs752511501 Benign
69354 Q9Y620 (RAD54B) I V 899 rs150017319 Benign
69355 Q9Y623 (MYH4) A T 594 rs12949680 Benign
69356 Q9Y623 (MYH4) T M 883 rs3744558 Benign
69357 Q9Y623 (MYH4) I M 1106 rs917361 Benign
69358 Q9Y623 (MYH4) A D 1117 rs16943441 Benign
69359 Q9Y623 (MYH4) E K 1209 rs11651295 Benign
69360 Q9Y623 (MYH4) D G 1802 rs2277649 Benign
69361 Q9Y623 (MYH4) R C 1862 rs34260986 Benign
69362 Q9Y623 (MYH4) K E 1911 rs3744554 Benign
69363 Q9Y625 (GPC6) V M 412 rs1535692 Benign
69364 Q9Y646 (CPQ) S N 138 rs34088584 Benign
69365 Q9Y651 (SOX21) G R 230 rs6492735 Benign
69366 Q9Y653 (ADGRG1) R Q 38 rs764367185 Disease: Polymicrogyr ia, bilateral frontopariet al (BFPP) [MIM:606854]
69367 Q9Y653 (ADGRG1) R W 38 rs121908462 Disease: Polymicrogyr ia, bilateral frontopariet al (BFPP) [MIM:606854]
69368 Q9Y653 (ADGRG1) Y C 88 rs121908466 Disease: Polymicrogyr ia, bilateral frontopariet al (BFPP) [MIM:606854]
69369 Q9Y653 (ADGRG1) C S 91 rs121908465 Disease: Polymicrogyr ia, bilateral frontopariet al (BFPP) [MIM:606854]
69370 Q9Y653 (ADGRG1) S R 281 rs1801257 Benign
69371 Q9Y653 (ADGRG1) Q H 306 rs1801255 Benign
69372 Q9Y653 (ADGRG1) C S 346 rs121908463 Disease: Polymicrogyr ia, bilateral frontopariet al (BFPP) [MIM:606854]
69373 Q9Y653 (ADGRG1) W S 349 - Disease: Polymicrogyr ia, bilateral frontopariet al (BFPP) [MIM:606854]
69374 Q9Y653 (ADGRG1) M T 493 rs17379472 Benign
69375 Q9Y653 (ADGRG1) E K 496 rs556518689 Disease: Polymicrogyr ia, bilateral frontopariet al (BFPP) [MIM:606854]
69376 Q9Y653 (ADGRG1) P L 527 rs16958679 Benign
69377 Q9Y653 (ADGRG1) R W 565 rs121908464 Disease: Polymicrogyr ia, bilateral frontopariet al (BFPP) [MIM:606854]
69378 Q9Y653 (ADGRG1) L R 640 - Disease: Polymicrogyr ia, bilateral frontopariet al (BFPP) [MIM:606854]
69379 Q9Y657 (SPIN1) A P 221 rs34794905 Benign
69380 Q9Y661 (HS3ST4) Q R 136 rs2943336 Benign
69381 Q9Y666 (SLC12A7) A T 408 rs4526148 Benign
69382 Q9Y672 (ALG6) Y H 131 rs35383149 Disease: Congenital disorder of glycosylatio n 1C (CDG1C) [MIM:603147]
69383 Q9Y672 (ALG6) S I 170 - Disease: Congenital disorder of glycosylatio n 1C (CDG1C) [MIM:603147]
69384 Q9Y672 (ALG6) K N 226 rs35604168 Benign
69385 Q9Y672 (ALG6) G E 227 rs372079206 Disease: Congenital disorder of glycosylatio n 1C (CDG1C) [MIM:603147]
69386 Q9Y672 (ALG6) S F 304 rs4630153 Benign
69387 Q9Y672 (ALG6) S R 308 - Disease: Congenital disorder of glycosylatio n 1C (CDG1C) [MIM:603147]
69388 Q9Y672 (ALG6) A V 333 rs121908443 Disease: Congenital disorder of glycosylatio n 1C (CDG1C) [MIM:603147]
69389 Q9Y672 (ALG6) S P 478 rs121908444 Disease: Congenital disorder of glycosylatio n 1C (CDG1C) [MIM:603147]
69390 Q9Y676 (MRPS18B) P A 230 rs34315095 Benign
69391 Q9Y678 (COPG1) M T 681 rs15648 Benign
69392 Q9Y692 (GMEB1) V A 14 rs11557120 Benign
69393 Q9Y694 (SLC22A7) R K 303 rs70953684 Benign
69394 Q9Y694 (SLC22A7) R W 327 rs36040909 Benign
69395 Q9Y694 (SLC22A7) G V 507 rs70953693 Benign
69396 Q9Y698 (CACNG2) V L 143 - Disease: Mental retardation, autosomal dominant 10 (MRD10) [MIM:614256]
69397 Q9Y6A1 (POMT1) G R 65 rs119462983 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
69398 Q9Y6A1 (POMT1) G R 76 rs28941782 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
69399 Q9Y6A1 (POMT1) R C 105 rs1289335417 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
69400 Q9Y6A1 (POMT1) R H 105 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
69401 Q9Y6A1 (POMT1) A P 200 rs119462982 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C1 (MDDGC1) [MIM:609308]
69402 Q9Y6A1 (POMT1) G V 207 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
69403 Q9Y6A1 (POMT1) Q R 251 rs2296949 Benign
69404 Q9Y6A1 (POMT1) Q W 251 rs386738991 Benign
69405 Q9Y6A1 (POMT1) L F 285 rs201073763 Benign
69406 Q9Y6A1 (POMT1) V I 327 rs4740164 Benign
69407 Q9Y6A1 (POMT1) V D 428 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
69408 Q9Y6A1 (POMT1) D E 433 rs11243406 Benign
69409 Q9Y6A1 (POMT1) R K 522 rs117985576 Benign
69410 Q9Y6A1 (POMT1) S R 537 rs150367385 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
69411 Q9Y6A1 (POMT1) W C 582 rs119462984 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
69412 Q9Y6A1 (POMT1) Q H 590 rs119462986 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
69413 Q9Y6A1 (POMT1) A T 669 rs119462987 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
69414 Q9Y6A5 (TACC3) E K 143 rs34205238 Benign
69415 Q9Y6A5 (TACC3) C Y 275 rs17132047 Benign
69416 Q9Y6A5 (TACC3) G S 287 rs1063743 Benign
69417 Q9Y6A5 (TACC3) G E 514 rs17680881 Benign
69418 Q9Y6B6 (SAR1B) G D 11 - Disease: Chylomicron retention disease (CMRD) [MIM:246700]
69419 Q9Y6B6 (SAR1B) G R 37 rs121917846 Disease: Chylomicron retention disease (CMRD) [MIM:246700]
69420 Q9Y6B6 (SAR1B) D G 75 rs1254114609 Disease: Chylomicron retention disease (CMRD) [MIM:246700]
69421 Q9Y6B6 (SAR1B) D N 137 rs28942109 Disease: Chylomicron retention disease (CMRD) [MIM:246700]
69422 Q9Y6B6 (SAR1B) S R 179 rs28942110 Disease: Chylomicron retention disease (CMRD) [MIM:246700]
69423 Q9Y6B7 (AP4B1) L S 480 rs1217401 Benign
69424 Q9Y6C2 (EMILIN1) R Q 149 rs2736976 Benign
69425 Q9Y6C2 (EMILIN1) Q R 536 rs36069611 Benign
69426 Q9Y6C2 (EMILIN1) E K 903 rs36045790 Benign
69427 Q9Y6C5 (PTCH2) E Q 346 rs11573578 Benign
69428 Q9Y6C5 (PTCH2) E K 493 rs11573581 Benign
69429 Q9Y6C5 (PTCH2) H Y 622 rs11573586 Benign
69430 Q9Y6C5 (PTCH2) T M 988 rs11573590 Benign
69431 Q9Y6C5 (PTCH2) V M 995 rs11573591 Benign
69432 Q9Y6C5 (PTCH2) V M 1019 rs11573591 Benign
69433 Q9Y6C5 (PTCH2) I M 1121 rs11573598 Benign
69434 Q9Y6C9 (MTCH2) R S 68 rs34072236 Benign
69435 Q9Y6C9 (MTCH2) P A 290 rs1064608 Benign
69436 Q9Y6D0 (SELENOK) R S 50 rs11562 Benign
69437 Q9Y6D5 (ARFGEF2) A V 527 rs6063343 Benign
69438 Q9Y6D5 (ARFGEF2) R Q 802 rs748482139 Benign
69439 Q9Y6D6 (ARFGEF1) D Y 273 rs4321984 Benign
69440 Q9Y6D9 (MAD1L1) N S 160 rs550573452 Benign
69441 Q9Y6D9 (MAD1L1) T M 500 rs193231481 Benign
69442 Q9Y6D9 (MAD1L1) E K 511 rs377555260 Benign
69443 Q9Y6E0 (STK24) A V 414 rs55953606 Benign
69444 Q9Y6E0 (STK24) L I 426 rs55897869 Benign
69445 Q9Y6E2 (BZW2) D A 44 rs35233079 Benign
69446 Q9Y6F1 (PARP3) S N 91 rs34224216 Benign
69447 Q9Y6F1 (PARP3) R H 100 rs28547534 Benign
69448 Q9Y6F1 (PARP3) Q R 269 rs323870 Benign
69449 Q9Y6F6 (IRAG1) I V 11 rs4909945 Benign
69450 Q9Y6F6 (IRAG1) A T 28 rs34302310 Benign
69451 Q9Y6F6 (IRAG1) A T 70 rs2162044 Benign
69452 Q9Y6F6 (IRAG1) P S 186 rs35857561 Benign
69453 Q9Y6F6 (IRAG1) Q H 289 rs34398944 Benign
69454 Q9Y6G1 (TMEM14A) C R 37 rs11543266 Benign
69455 Q9Y6G5 (COMMD10) I S 128 rs1129495 Benign
69456 Q9Y6G9 (DYNC1LI1) M T 147 rs34181332 Benign
69457 Q9Y6G9 (DYNC1LI1) Q R 277 rs2303857 Benign
69458 Q9Y6H1 (CHCHD2) P L 2 rs142444896 Benign
69459 Q9Y6H1 (CHCHD2) G R 4 rs778328496 Benign
69460 Q9Y6H1 (CHCHD2) P S 14 rs137965562 Benign
69461 Q9Y6H1 (CHCHD2) P L 34 rs371198317 Benign
69462 Q9Y6H1 (CHCHD2) A V 37 rs1427631250 Benign
69463 Q9Y6H1 (CHCHD2) A V 49 rs151213700 Benign
69464 Q9Y6H1 (CHCHD2) T I 61 rs864309650 Disease: Parkinson disease 22 (PARK22) [MIM:616710]
69465 Q9Y6H1 (CHCHD2) H N 78 rs11546418 Benign
69466 Q9Y6H1 (CHCHD2) A V 93 rs748182315 Benign
69467 Q9Y6H3 (ATP23) S C 48 rs3751325 Benign
69468 Q9Y6H5 (SNCAIP) V A 44 rs56285021 Benign
69469 Q9Y6H5 (SNCAIP) E G 235 rs6867105 Benign
69470 Q9Y6H5 (SNCAIP) E Q 706 - Benign
69471 Q9Y6H6 (KCNE3) T A 4 rs200856070 Benign
69472 Q9Y6H6 (KCNE3) P R 39 rs34604640 Benign
69473 Q9Y6H8 (GJA3) G D 2 rs397514703 Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69474 Q9Y6H8 (GJA3) D Y 3 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69475 Q9Y6H8 (GJA3) V M 28 rs1555339539 Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69476 Q9Y6H8 (GJA3) F L 32 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69477 Q9Y6H8 (GJA3) R L 33 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69478 Q9Y6H8 (GJA3) V M 44 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69479 Q9Y6H8 (GJA3) W S 45 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69480 Q9Y6H8 (GJA3) D N 47 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69481 Q9Y6H8 (GJA3) E G 48 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69482 Q9Y6H8 (GJA3) P L 59 rs864309691 Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69483 Q9Y6H8 (GJA3) N S 63 rs121917823 Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69484 Q9Y6H8 (GJA3) R G 76 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69485 Q9Y6H8 (GJA3) R H 76 rs121917827 Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69486 Q9Y6H8 (GJA3) T M 87 rs864309687 Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69487 Q9Y6H8 (GJA3) G E 143 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69488 Q9Y6H8 (GJA3) P L 187 rs121917825 Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69489 Q9Y6H8 (GJA3) P S 187 - Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69490 Q9Y6H8 (GJA3) N I 188 rs140332366 Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69491 Q9Y6H8 (GJA3) N T 188 rs140332366 Disease: Cataract 14, multiple types (CTRCT14) [MIM:601885]
69492 Q9Y6H8 (GJA3) L M 299 rs968566 Benign
69493 Q9Y6I4 (USP3) P T 360 rs34776764 Benign
69494 Q9Y6I7 (WSB1) L S 16 rs6561 Benign
69495 Q9Y6I8 (PXMP4) V I 204 rs910397 Benign
69496 Q9Y6I9 (TEX264) G E 292 rs11553574 Benign
69497 Q9Y6J0 (CABIN1) A T 56 rs5760185 Benign
69498 Q9Y6J0 (CABIN1) D N 225 rs17004823 Benign
69499 Q9Y6J0 (CABIN1) S R 517 rs9624393 Benign
69500 Q9Y6J0 (CABIN1) R S 660 rs9624395 Benign
69501 Q9Y6J0 (CABIN1) R Q 853 rs17854874 Benign
69502 Q9Y6J0 (CABIN1) Q E 921 rs12166151 Benign
69503 Q9Y6J3 (SMAD5-AS1) K N 85 rs3764941 Benign
69504 Q9Y6J6 (KCNE2) T A 8 rs2234916 Benign
69505 Q9Y6J6 (KCNE2) T I 8 rs35759083 Benign
69506 Q9Y6J6 (KCNE2) Q E 9 rs16991652 Benign
69507 Q9Y6J6 (KCNE2) R C 27 rs74315449 Disease: Atrial fibrillation , familial, 4 (ATFB4) [MIM:611493]
69508 Q9Y6J6 (KCNE2) M T 54 rs74315447 Disease: Long QT syndrome 6 (LQT6) [MIM:613693]
69509 Q9Y6J6 (KCNE2) I T 57 rs74315448 Disease: Long QT syndrome 6 (LQT6) [MIM:613693]
69510 Q9Y6J6 (KCNE2) F L 60 rs16991654 Disease: Long QT syndrome 6 (LQT6) [MIM:613693]
69511 Q9Y6J6 (KCNE2) V M 65 rs199473364 Disease: Long QT syndrome 6 (LQT6) [MIM:613693]
69512 Q9Y6J6 (KCNE2) A V 66 rs16991656 Benign
69513 Q9Y6J6 (KCNE2) R W 77 rs141423405 Disease: Long QT syndrome 6 (LQT6) [MIM:613693]
69514 Q9Y6K1 (DNMT3A) I N 310 rs587777508 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69515 Q9Y6K1 (DNMT3A) W R 330 - Disease: Heyn-Sproul- Jackson syndrome (HESJAS) [MIM:618724]
69516 Q9Y6K1 (DNMT3A) D N 333 - Disease: Heyn-Sproul- Jackson syndrome (HESJAS) [MIM:618724]
69517 Q9Y6K1 (DNMT3A) G S 532 rs951361433 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69518 Q9Y6K1 (DNMT3A) M K 548 rs587777509 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69519 Q9Y6K1 (DNMT3A) C R 549 - Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69520 Q9Y6K1 (DNMT3A) L P 648 rs587777507 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69521 Q9Y6K1 (DNMT3A) P L 700 rs772368909 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69522 Q9Y6K1 (DNMT3A) R C 749 rs754613602 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69523 Q9Y6K1 (DNMT3A) N D 838 rs961377711 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69524 Q9Y6K1 (DNMT3A) R C 882 rs377577594 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69525 Q9Y6K1 (DNMT3A) R H 882 rs147001633 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69526 Q9Y6K1 (DNMT3A) F S 902 rs587777510 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69527 Q9Y6K1 (DNMT3A) P L 904 rs149095705 Disease: Tatton- Brown-Rahman syndrome (TBRS) [MIM:615879]
69528 Q9Y6K5 (OAS3) R K 18 rs1859330 Benign
69529 Q9Y6K5 (OAS3) R M 18 rs1859330 Benign
69530 Q9Y6K5 (OAS3) R T 18 rs1859330 Benign
69531 Q9Y6K5 (OAS3) R W 65 rs12819767 Benign
69532 Q9Y6K5 (OAS3) R K 378 rs45519442 Benign
69533 Q9Y6K5 (OAS3) S R 381 rs2285933 Benign
69534 Q9Y6K5 (OAS3) R H 869 rs16942374 Benign
69535 Q9Y6K8 (AK5) R Q 465 rs2803140 Benign
69536 Q9Y6K9 (IKBKG) E K 57 rs148695964 Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69537 Q9Y6K9 (IKBKG) D N 113 rs179363896 Benign
69538 Q9Y6K9 (IKBKG) R W 123 rs179363895 Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69539 Q9Y6K9 (IKBKG) L R 153 rs137853328 Disease: Ectodermal dysplasia and immunodefici ency 1 (EDAID1) [MIM:300291]
69540 Q9Y6K9 (IKBKG) L P 170 - Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69541 Q9Y6K9 (IKBKG) R G 173 rs179363866 Disease: Recurrent isolated invasive pneumococcal disease 2 (IPD2) [MIM:300640]
69542 Q9Y6K9 (IKBKG) R Q 173 rs1057520292 Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69543 Q9Y6K9 (IKBKG) R P 175 rs179363868 Disease: Ectodermal dysplasia and immunodefici ency 1 (EDAID1) [MIM:300291]
69544 Q9Y6K9 (IKBKG) Q H 183 rs1198984417 Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69545 Q9Y6K9 (IKBKG) L P 227 rs179363869 Disease: Ectodermal dysplasia and immunodefici ency 1 (EDAID1) [MIM:300291]
69546 Q9Y6K9 (IKBKG) A G 288 rs137853330 Disease: Ectodermal dysplasia and immunodefici ency 1 (EDAID1) [MIM:300291]
69547 Q9Y6K9 (IKBKG) D N 311 rs179363867 Disease: Ectodermal dysplasia and immunodefici ency 1 (EDAID1) [MIM:300291]
69548 Q9Y6K9 (IKBKG) A P 314 - Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69549 Q9Y6K9 (IKBKG) E A 315 rs137853331 Disease: Immunodefici ency 33 (IMD33) [MIM:300636]
69550 Q9Y6K9 (IKBKG) R Q 319 rs137853332 Disease: Immunodefici ency 33 (IMD33) [MIM:300636]
69551 Q9Y6K9 (IKBKG) L P 322 - Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69552 Q9Y6K9 (IKBKG) A P 323 rs179363865 Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69553 Q9Y6K9 (IKBKG) D V 406 rs137853327 Disease: Ectodermal dysplasia and immunodefici ency 1 (EDAID1) [MIM:300291]
69554 Q9Y6K9 (IKBKG) M V 407 rs137853322 Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69555 Q9Y6K9 (IKBKG) H Y 413 - Disease: Incontinenti a pigmenti (IP) [MIM:308300]
69556 Q9Y6K9 (IKBKG) C F 417 rs137853326 Disease: Ectodermal dysplasia and immunodefici ency 1 (EDAID1) [MIM:300291]
69557 Q9Y6K9 (IKBKG) C R 417 rs137853325 Disease: Ectodermal dysplasia and immunodefici ency 1 (EDAID1) [MIM:300291]
69558 Q9Y6K9 (IKBKG) C Y 417 rs137853326 Disease: Immunodefici ency, NEMO- related, without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584]
69559 Q9Y6L6 (SLCO1B1) F L 73 rs56101265 Benign
69560 Q9Y6L6 (SLCO1B1) V A 82 rs56061388 Benign
69561 Q9Y6L6 (SLCO1B1) N D 130 rs2306283 Benign
69562 Q9Y6L6 (SLCO1B1) N S 151 rs2306282 Benign
69563 Q9Y6L6 (SLCO1B1) R K 152 - Benign
69564 Q9Y6L6 (SLCO1B1) P T 155 rs11045819 Benign
69565 Q9Y6L6 (SLCO1B1) E G 156 rs72559745 Benign
69566 Q9Y6L6 (SLCO1B1) V A 174 rs4149056 Benign
69567 Q9Y6L6 (SLCO1B1) L R 193 rs72559746 Benign
69568 Q9Y6L6 (SLCO1B1) D N 241 rs751709893 Benign
69569 Q9Y6L6 (SLCO1B1) I V 245 rs11045852 Benign
69570 Q9Y6L6 (SLCO1B1) I T 353 rs55901008 Benign
69571 Q9Y6L6 (SLCO1B1) N D 432 rs56387224 Benign
69572 Q9Y6L6 (SLCO1B1) D G 462 rs72559748 Benign
69573 Q9Y6L6 (SLCO1B1) G A 488 rs59502379 Benign
69574 Q9Y6L6 (SLCO1B1) L F 643 rs34671512 Benign
69575 Q9Y6L6 (SLCO1B1) D G 655 rs56199088 Benign
69576 Q9Y6L6 (SLCO1B1) E G 667 rs55737008 Benign
69577 Q9Y6M0 (PRSS21) R Q 264 rs2072273 Benign
69578 Q9Y6M7 (SLC4A7) E K 326 rs3755652 Benign
69579 Q9Y6M9 (NDUFB9) L P 64 rs776388520 Disease: Mitochondria l complex I deficiency, nuclear type 24 (MC1DN24) [MIM:618245]
69580 Q9Y6M9 (NDUFB9) P S 146 rs10195 Benign
69581 Q9Y6N1 (COX11) P L 74 rs34080917 Benign
69582 Q9Y6N3 (CLCA3P) Y T 84 rs2292830 Benign
69583 Q9Y6N3 (CLCA3P) I T 104 rs2292829 Benign
69584 Q9Y6N5 (SQOR) I T 264 rs1044032 Benign
69585 Q9Y6N6 (LAMC3) G R 350 rs571785750 Disease: Cortical malformation s occipital (OCCM) [MIM:614115]
69586 Q9Y6N6 (LAMC3) P S 522 rs869457 Benign
69587 Q9Y6N6 (LAMC3) E G 544 rs10901333 Benign
69588 Q9Y6N6 (LAMC3) R G 770 rs3739510 Benign
69589 Q9Y6N6 (LAMC3) S G 1082 rs2275140 Benign
69590 Q9Y6N6 (LAMC3) R W 1264 rs11244275 Benign
69591 Q9Y6N7 (ROBO1) V A 336 rs9647397 Benign
69592 Q9Y6N7 (ROBO1) S N 1091 rs35456279 Benign
69593 Q9Y6N8 (CDH10) S F 413 rs1395027 Benign
69594 Q9Y6N9 (USH1C) E D 519 rs1064074 Benign
69595 Q9Y6P5 (SESN1) L I 44 rs2273668 Benign
69596 Q9Y6Q1 (CAPN6) V L 277 rs12013711 Benign
69597 Q9Y6Q1 (CAPN6) T I 518 rs12851517 Benign
69598 Q9Y6Q2 (STON1) K N 8 rs17039250 Benign
69599 Q9Y6Q2 (STON1) R T 127 rs940389 Benign
69600 Q9Y6Q2 (STON1) Q H 544 rs3828341 Benign
69601 Q9Y6Q2 (STON1) Q H 607 rs3792234 Benign
69602 Q9Y6Q3 (ZFP37) V D 7 rs2282076 Benign
69603 Q9Y6Q6 (TNFRSF11A) G R 53 rs121908659 Disease: Osteopetrosi s, autosomal recessive 7 (OPTB7) [MIM:612301]
69604 Q9Y6Q6 (TNFRSF11A) R C 129 rs121908657 Disease: Osteopetrosi s, autosomal recessive 7 (OPTB7) [MIM:612301]
69605 Q9Y6Q6 (TNFRSF11A) H Y 141 rs35211496 Benign
69606 Q9Y6Q6 (TNFRSF11A) R G 170 rs121908655 Disease: Osteopetrosi s, autosomal recessive 7 (OPTB7) [MIM:612301]
69607 Q9Y6Q6 (TNFRSF11A) C R 175 rs121908656 Disease: Osteopetrosi s, autosomal recessive 7 (OPTB7) [MIM:612301]
69608 Q9Y6Q6 (TNFRSF11A) A V 192 rs1805034 Benign
69609 Q9Y6Q6 (TNFRSF11A) A S 244 rs121908658 Disease: Osteopetrosi s, autosomal recessive 7 (OPTB7) [MIM:612301]
69610 Q9Y6Q9 (NCOA3) R C 218 rs6094752 Benign
69611 Q9Y6Q9 (NCOA3) R I 220 rs72645252 Benign
69612 Q9Y6Q9 (NCOA3) L F 369 rs6094756 Benign
69613 Q9Y6Q9 (NCOA3) G R 460 rs1052765 Benign
69614 Q9Y6Q9 (NCOA3) I V 556 rs72645272 Benign
69615 Q9Y6Q9 (NCOA3) P S 559 rs2230781 Benign
69616 Q9Y6Q9 (NCOA3) Q H 586 rs2230782 Benign
69617 Q9Y6Q9 (NCOA3) S A 777 rs2230783 Benign
69618 Q9Y6Q9 (NCOA3) M K 1247 rs72645299 Benign
69619 Q9Y6Q9 (NCOA3) M L 1247 rs72645298 Benign
69620 Q9Y6R1 (SLC4A4) R S 342 rs121908856 Disease: Renal tubular acidosis, proximal, with ocular abnormalitie s and mental retardation (pRTA-OA) [MIM:604278]
69621 Q9Y6R1 (SLC4A4) S L 471 - Disease: Renal tubular acidosis, proximal, with ocular abnormalitie s and mental retardation (pRTA-OA) [MIM:604278]
69622 Q9Y6R1 (SLC4A4) T S 529 - Disease: Renal tubular acidosis, proximal, with ocular abnormalitie s and mental retardation (pRTA-OA) [MIM:604278]
69623 Q9Y6R1 (SLC4A4) G R 530 - Disease: Renal tubular acidosis, proximal, with ocular abnormalitie s and mental retardation (pRTA-OA) [MIM:604278]
69624 Q9Y6R1 (SLC4A4) R H 554 rs121908857 Disease: Renal tubular acidosis, proximal, with ocular abnormalitie s and mental retardation (pRTA-OA) [MIM:604278]
69625 Q9Y6R1 (SLC4A4) L P 566 - Disease: Renal tubular acidosis, proximal, with ocular abnormalitie s and mental retardation (pRTA-OA) [MIM:604278]
69626 Q9Y6R1 (SLC4A4) A V 843 - Disease: Renal tubular acidosis, proximal, with ocular abnormalitie s and mental retardation (pRTA-OA) [MIM:604278]
69627 Q9Y6R1 (SLC4A4) R C 925 rs1203164637 Disease: Renal tubular acidosis, proximal, with ocular abnormalitie s and mental retardation (pRTA-OA) [MIM:604278]
69628 Q9Y6R4 (MAP3K4) R H 157 rs4559074 Benign
69629 Q9Y6R4 (MAP3K4) I T 294 rs35842248 Benign
69630 Q9Y6R4 (MAP3K4) V I 335 rs35730939 Benign
69631 Q9Y6R4 (MAP3K4) R H 566 rs55765351 Benign
69632 Q9Y6R4 (MAP3K4) Q H 584 rs34018542 Benign
69633 Q9Y6R4 (MAP3K4) H P 906 rs35533223 Benign
69634 Q9Y6R4 (MAP3K4) A V 1492 rs41267837 Benign
69635 Q9Y6R7 (FCGBP) V A 732 rs34181317 Benign
69636 Q9Y6R7 (FCGBP) N S 770 rs34939346 Benign
69637 Q9Y6R7 (FCGBP) G R 929 rs35338934 Benign
69638 Q9Y6R7 (FCGBP) V M 971 rs35922811 Benign
69639 Q9Y6R7 (FCGBP) G R 1019 rs34254649 Benign
69640 Q9Y6R7 (FCGBP) V L 1340 rs11083543 Benign
69641 Q9Y6R7 (FCGBP) P L 1436 rs36106401 Benign
69642 Q9Y6R7 (FCGBP) H D 1445 rs2909229 Benign
69643 Q9Y6R7 (FCGBP) T N 1524 rs34938990 Benign
69644 Q9Y6R7 (FCGBP) G V 1616 rs7248839 Benign
69645 Q9Y6R7 (FCGBP) M V 1617 rs7249743 Benign
69646 Q9Y6R7 (FCGBP) N D 2089 rs885723 Benign
69647 Q9Y6R7 (FCGBP) E D 2646 rs140171218 Benign
69648 Q9Y6R7 (FCGBP) E K 2647 rs1176978283 Benign
69649 Q9Y6R7 (FCGBP) A V 2793 rs2542316 Benign
69650 Q9Y6R7 (FCGBP) V A 2814 rs3746009 Benign
69651 Q9Y6R7 (FCGBP) G S 3264 rs1290971390 Benign
69652 Q9Y6R7 (FCGBP) H Q 3920 rs2542318 Benign
69653 Q9Y6R7 (FCGBP) V A 4015 rs3746009 Benign
69654 Q9Y6R7 (FCGBP) G D 4095 rs1975181 Benign
69655 Q9Y6R7 (FCGBP) G S 4465 rs6508919 Benign
69656 Q9Y6R7 (FCGBP) D H 4906 rs3746013 Benign
69657 Q9Y6R7 (FCGBP) A V 5017 rs741143 Benign
69658 Q9Y6S9 (RPS6KL1) R Q 21 rs7156590 Benign
69659 Q9Y6S9 (RPS6KL1) P L 121 rs2286913 Benign
69660 Q9Y6S9 (RPS6KL1) R W 332 rs55871101 Benign
69661 Q9Y6T7 (DGKB) G S 789 rs34616903 Benign
69662 Q9Y6U3 (SCIN) H R 61 rs2240572 Benign
69663 Q9Y6U3 (SCIN) A P 443 rs35083013 Benign
69664 Q9Y6U3 (SCIN) F L 455 rs17166250 Benign
69665 Q9Y6U3 (SCIN) K R 500 rs35705332 Benign
69666 Q9Y6U3 (SCIN) L F 578 rs1138957 Benign
69667 Q9Y6U7 (RNF215) A T 322 rs5749088 Benign
69668 Q9Y6V0 (PCLO) T P 2671 rs10261848 Benign
69669 Q9Y6V0 (PCLO) A T 2804 rs976714 Benign
69670 Q9Y6V7 (DDX49) R H 222 rs35802425 Benign
69671 Q9Y6V7 (DDX49) S A 296 rs35614860 Benign
69672 Q9Y6V7 (DDX49) R W 413 rs16995781 Benign
69673 Q9Y6X0 (SETBP1) V L 231 rs11082414 Benign
69674 Q9Y6X0 (SETBP1) S A 854 - Disease: Leukemia, acute myelogenous (AML) [MIM:601626]
69675 Q9Y6X0 (SETBP1) E K 858 rs1178702025 Disease: Leukemia, chronic myeloid, atypical (ACML) [MIM:608232]
69676 Q9Y6X0 (SETBP1) D A 868 rs267607041 Disease: Schinzel- Giedion midface retraction syndrome (SGMFS) [MIM:269150]
69677 Q9Y6X0 (SETBP1) D N 868 rs267607042 Disease: Schinzel- Giedion midface retraction syndrome (SGMFS) [MIM:269150]
69678 Q9Y6X0 (SETBP1) S N 869 - Disease: Myelodysplas tic syndrome (MDS) [MIM:614286]
69679 Q9Y6X0 (SETBP1) G D 870 rs267607039 Disease: Schinzel- Giedion midface retraction syndrome (SGMFS) [MIM:269150]
69680 Q9Y6X0 (SETBP1) G R 870 - Disease: Leukemia, acute myelogenous (AML) [MIM:601626]
69681 Q9Y6X0 (SETBP1) G S 870 rs267607040 Disease: Schinzel- Giedion midface retraction syndrome (SGMFS) [MIM:269150]
69682 Q9Y6X0 (SETBP1) I S 871 - Disease: Leukemia, acute myelogenous (AML) [MIM:601626]
69683 Q9Y6X0 (SETBP1) I T 871 rs267607038 Disease: Schinzel- Giedion midface retraction syndrome (SGMFS) [MIM:269150]
69684 Q9Y6X0 (SETBP1) T R 873 - Disease: Myelodysplas tic syndrome (MDS) [MIM:614286]
69685 Q9Y6X0 (SETBP1) D N 908 rs559186877 Benign
69686 Q9Y6X0 (SETBP1) V I 1101 rs3744825 Benign
69687 Q9Y6X0 (SETBP1) P T 1130 rs1064204 Benign
69688 Q9Y6X0 (SETBP1) R H 1321 rs149638556 Benign
69689 Q9Y6X0 (SETBP1) V L 1377 rs77518617 Benign
69690 Q9Y6X2 (PIAS3) S C 390 rs17354559 Benign
69691 Q9Y6X5 (ENPP4) H Q 144 rs7451713 Benign
69692 Q9Y6X5 (ENPP4) I V 255 rs9381429 Benign
69693 Q9Y6X5 (ENPP4) S A 439 rs16874289 Benign
69694 Q9Y6X6 (MYO16) D E 181 rs911973 Benign
69695 Q9Y6X6 (MYO16) V I 339 rs405397 Benign
69696 Q9Y6X6 (MYO16) M T 385 rs16973313 Benign
69697 Q9Y6X6 (MYO16) P A 831 rs3825491 Benign
69698 Q9Y6X6 (MYO16) I M 1171 rs157024 Benign
69699 Q9Y6X8 (ZHX2) V M 357 rs9649951 Benign
69700 Q9Y6X8 (ZHX2) R K 649 rs35319449 Benign
69701 Q9Y6X8 (ZHX2) G S 779 rs3802264 Benign
69702 Q9Y6X9 (MORC2) S L 87 rs864309504 Disease: Charcot- Marie-Tooth disease 2Z (CMT2Z) [MIM:616688]
69703 Q9Y6X9 (MORC2) E G 236 rs886037934 Disease: Charcot- Marie-Tooth disease 2Z (CMT2Z) [MIM:616688]
69704 Q9Y6X9 (MORC2) Y C 248 rs1355363942 Benign
69705 Q9Y6X9 (MORC2) R W 252 rs864309503 Disease: Charcot- Marie-Tooth disease 2Z (CMT2Z) [MIM:616688]
69706 Q9Y6X9 (MORC2) R H 283 rs1482880426 Benign
69707 Q9Y6X9 (MORC2) T R 424 - Disease: -
69708 Q9Y6X9 (MORC2) D H 466 - Benign
69709 Q9Y6X9 (MORC2) R C 585 rs548292999 Benign
69710 Q9Y6X9 (MORC2) E G 757 rs774444542 Benign
69711 Q9Y6Y1 (CAMTA1) N K 1177 rs41278952 Benign
69712 Q9Y6Y1 (CAMTA1) N T 1218 rs41278954 Benign
69713 Q9Y6Y1 (CAMTA1) T I 1336 rs137974312 Benign
69714 Q9Y6Y8 (SEC23IP) K E 644 rs2475298 Benign
69715 Q9Y6Y9 (LY96) R G 56 rs6472812 Benign
69716 Q9Y6Y9 (LY96) P S 157 rs11466004 Benign
69717 Q9Y6Z4 (KIF25-AS1) H D 23 rs9355149 Benign
69718 Q9Y6Z4 (KIF25-AS1) C R 24 rs2516801 Benign
69719 Q9Y6Z4 (KIF25-AS1) Q E 57 rs9364382 Benign
69720 Q9Y6Z7 (COLEC10) C W 176 rs773764995 Disease: 3MC syndrome 3 (3MC3) [MIM:248340]

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