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
RS2523808126 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2523812274 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523812427 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523812635 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523813556 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523816358 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS2523817213 ABCA4 Health Risk Likely pathogenic —
RS2523817445 ABCA4 Health Risk Likely pathogenic —
RS2523821588 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2523821836 ABCA4 Health Risk Likely pathogenic —
RS2523821851 ABCA4 Health Risk Likely pathogenic —
RS2523822075 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 19, Retinitis pigmentosa
RS2523822381 ABCA4 Health Risk Pathogenic —
RS2523823680 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523824790 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523826031 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523826385 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523832449 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523832524 COL4A5 Health Risk Pathogenic —
RS2523832541 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2523832548 ABCA4 Health Risk Pathogenic —
RS2523832712 ABCA4 Health Risk Pathogenic —
RS2523832753 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Severe early-childhood-onset retinal dystrophy
RS2523832903 ABCA4 Health Risk Pathogenic —
RS2523832979 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2523833102 ABCA4 Health Risk Pathogenic Stargardt disease 3, Stargardt disease 3
RS2523833166 ABCA4 Health Risk Likely pathogenic —
RS2523833248 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2523833392 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2523833601 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2523837290 F8 Health Risk Pathogenic —
RS2523837302 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523839082 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523839448 F8 Health Risk Likely pathogenic F8-related disorder, F8-related disorder
RS2523841162 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2523841187 ABCA4 Health Risk Pathogenic —
RS2523841284 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 19, Retinitis pigmentosa 19
RS2523841357 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523841647 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523841751 ABCA4 Health Risk Pathogenic —
RS2523841893 ABCA4 Health Risk Pathogenic —
RS2523841936 ABCA4 Health Risk Pathogenic —
RS2523843294 ABCA4 Health Risk Pathogenic —
RS2523843503 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523843902 ABCA4 Health Risk Likely pathogenic —
RS2523843951 ABCA4 Health Risk Likely pathogenic —
RS2523844007 ABCA4 Health Risk Pathogenic —
RS2523844235 ABCA4 Health Risk Pathogenic —
RS2523844624 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523845915 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523846596 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523847062 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523847160 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523849246 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523860788 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523861493 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523861670 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523864330 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523864359 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523866868 AGO1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
RS2523869404 AGO1 Health Risk Likely pathogenic Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
RS2523871196 AGO1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523871765 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2523873242 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2523873396 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2523876654 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523876717 F8 Health Risk Conflicting classifications of pathogenicity —
RS2523876957 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523879810 KCNQ4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS2523879905 F8 Health Risk Likely pathogenic F8-related disorder, F8-related disorder
RS2523881352 F8 Health Risk Pathogenic —
RS2523882193 F8 Health Risk Likely pathogenic F8-related disorder, F8-related disorder
RS2523882381 KCNQ4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS2523883814 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523883958 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523884149 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523885415 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523885566 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523885648 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523885652 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523885738 F8 Health Risk Likely pathogenic —
RS2523887223 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523887246 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523887288 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523887339 PRDM16 Health Risk Likely pathogenic Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS2523890741 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523891438 ABCA4 Health Risk Pathogenic —
RS2523892264 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS2523892266 PGM1 Health Risk Likely pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS2523892321 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS2523894686 ABCA4 Health Risk Pathogenic —
RS2523894863 ABCA4 Health Risk Pathogenic —
RS2523895047 ABCA4 Health Risk Pathogenic —
RS2523895384 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2523895442 ABCA4 Health Risk Pathogenic —
RS2523895823 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS2523897592 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523897865 ABCA4 Health Risk Pathogenic —
RS2523902047 ABCA4 Health Risk Pathogenic —
RS2523902363 ABCA4 Health Risk Pathogenic —
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