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
RS2524617057 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524617089 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524617464 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2524617586 KCNA2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32
RS2524617930 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2524618796 KCNA2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32
RS2524618913 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2524619322 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2524619990 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2524620000 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2524620234 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524620506 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524620540 KCNA2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32
RS2524620789 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524620795 KCNA2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2524621052 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2524621109 KCNA2 Health Risk Conflicting classifications of pathogenicity Seizure, Developmental and epileptic encephalopathy
RS2524621142 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524621184 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524621364 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524621430 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524621713 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524621787 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524622671 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524623169 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2524627674 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524627990 DCX Health Risk Conflicting classifications of pathogenicity Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS2524628032 DCX Health Risk Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS2524628081 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524628292 COL4A5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2524628532 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524628824 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524631898 COL4A5 Health Risk Pathogenic —
RS2524632041 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524632147 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2524632295 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524632451 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524632501 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524632575 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524632703 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2524632984 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524635932 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524635966 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524636528 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524636797 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524643943 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524644013 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524644038 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524644368 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524645713 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524646096 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524646173 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524646246 COL4A5 Health Risk Pathogenic —
RS2524647813 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524649076 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524649123 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524650493 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524650853 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524651345 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524651965 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524652125 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524652143 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524652195 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524652281 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524652341 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524652518 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524652526 SCP2 Health Risk Pathogenic —
RS2524652589 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524653447 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524653783 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524653806 COL4A5 Health Risk Pathogenic —
RS2524653832 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524653885 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524654201 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524654227 SPOCD1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2524654509 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524672193 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524672313 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524674636 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524674726 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524674757 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524674924 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524675114 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524675179 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524675321 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524675538 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524677141 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524677372 ADPRS Health Risk Pathogenic Neurodegeneration, childhood-onset
RS2524677445 ADPRS Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS2524677741 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524678039 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524678291 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524678480 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524684835 ADPRS Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS2524685601 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS2524687222 DHDDS Health Risk Likely pathogenic DHDDS-related disorder, DHDDS-related disorder
RS2524687283 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS2524687386 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS2524688567 COL11A1 Health Risk Likely pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS2524688991 SLC30A7 Health Risk Likely pathogenic Ziegler-Huang syndrome, Testicular atrophy
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