SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2524517997 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524518337 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524518453 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524522657 EPHA2 Health Risk Likely pathogenic EPHA2-related disorder, EPHA2-related disorder
RS2524523366 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524531020 COL4A5 Health Risk Pathogenic —
RS2524531360 COL4A5 Health Risk Pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524531633 COL4A5 Health Risk Likely pathogenic —
RS2524531676 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524532092 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524532130 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524536489 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524537067 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524537325 STXBP3 Health Risk Likely pathogenic —
RS2524537401 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524537821 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524538503 EPHA2 Health Risk Pathogenic Cataract 6 multiple types, Cataract 6 multiple types
RS2524538529 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524538544 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2524539576 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524540006 COL11A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS2524547709 EPHA2 Health Risk Pathogenic Cataract 6 multiple types, Cataract 6 multiple types
RS2524553668 COL11A1 Health Risk Likely pathogenic —
RS2524554332 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS2524554561 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524557470 JUN Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS2524558233 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524558279 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524558926 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524559110 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524559797 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524559947 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524560342 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524562354 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524562444 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524562788 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524562895 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524563270 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524566727 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524567007 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524567059 COL4A5 Health Risk Likely pathogenic —
RS2524567510 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524569936 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524570014 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524570148 COL11A1 Health Risk Likely pathogenic —
RS2524570658 COL11A1 Health Risk Likely pathogenic —
RS2524574720 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524575008 COL4A5 Health Risk Pathogenic —
RS2524575302 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524575358 COL4A5 Health Risk Likely pathogenic —
RS2524575520 COL4A5 Health Risk Likely pathogenic —
RS2524576103 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524576195 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524576232 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524576251 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524581638 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524594594 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524594680 AGL Health Risk Pathogenic —
RS2524598786 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524598869 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524599094 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524599176 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524599189 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524599489 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524599521 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524600033 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524600117 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524602046 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524602049 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524602187 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524602263 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524602272 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524602289 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524602458 COL4A5 Health Risk Pathogenic —
RS2524602549 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524602554 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524602624 COL4A5 Health Risk Likely pathogenic —
RS2524602778 COL4A5 Health Risk Likely pathogenic —
RS2524607838 KCNA2 Health Risk Pathogenic —
RS2524610106 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524610436 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2524610786 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524611865 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524612019 DMD Health Risk Likely pathogenic —
RS2524612238 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524612750 GJA5 Health Risk Pathogenic Atrial standstill 1, Atrial fibrillation
RS2524613087 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524613304 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524613329 COL4A5 Health Risk Likely pathogenic —
RS2524613345 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524613412 COL4A5 Health Risk Likely pathogenic —
RS2524613968 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524615704 DMD Health Risk Pathogenic Highly elevated creatine kinase, Highly elevated creatine kinase
RS2524616299 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524616375 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2524616402 COL4A5 Health Risk Pathogenic —
RS2524616549 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524616692 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2524616704 KCNA2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32
RS2524616827 COL4A5 Health Risk Likely pathogenic Kidney disorder, Kidney disorder
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