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
RS1556421658 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS1556421731 COL4A5 Health Risk Likely pathogenic —
RS1556422499 MT-RNR1 Health Risk Pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS1556423388 MT-CO2 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS1556423632 MT-ATP6 Health Risk Likely pathogenic Leigh syndrome, Mitochondrial disease
RS1556423703 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556423728 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556423844 MT-ND4L Health Risk Likely pathogenic Leber optic atrophy, Mitochondrial disease
RS1556424691 MT-TT Health Risk Likely pathogenic Variant of unknown significance, 7 conditions
RS1556425186 SBF1 Health Risk Pathogenic —
RS1556425300 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1556425467 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556425468 COL6A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Bethlem myopathy 1A
RS1556425474 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556425531 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556425566 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556425596 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS1556425679 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556425687 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556425717 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556425832 COL6A1 Health Risk Pathogenic —
RS1556425835 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556425853 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1556435929 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1556435940 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1556436706 SBF1 Health Risk Pathogenic —
RS1556436855 SBF1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS1556437035 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1556439394 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556446493 COL4A5 Health Risk Pathogenic Chronic kidney disease, Elevated mean arterial pressure
RS1556446657 COL4A5 Health Risk Pathogenic —
RS1556450491 XK Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556450972 SHOX Health Risk Pathogenic SHOX-related short stature, SHOX-related short stature
RS1556451235 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556453243 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556453276 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556462917 COL4A5 Health Risk Likely pathogenic Lung cancer, X-linked Alport syndrome
RS1556463583 COL4A5 Health Risk Likely pathogenic Proteinuria, Hematuria
RS1556464116 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1556464542 CYBB Health Risk Pathogenic —
RS1556464554 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1556464581 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1556464851 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS1556464882 CYBB Health Risk Pathogenic —
RS1556468360 CYBB Health Risk Likely pathogenic —
RS1556468363 CYBB Health Risk Pathogenic —
RS1556468777 SHOX Health Risk Pathogenic —
RS1556469197 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1556470775 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1556470794 CYBB Health Risk Pathogenic —
RS1556471620 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS1556472628 CYBB Health Risk Pathogenic —
RS1556473078 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS1556473119 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1556483060 SCO2 Health Risk Likely pathogenic —
RS1556483387 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1556486029 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1556486467 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1556488264 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1556488369 TYMP Health Risk Pathogenic —
RS1556503812 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556503937 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556516921 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1556518231 SOX3 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1556526609 DEPDC5 Health Risk Pathogenic/Likely pathogenic Familial focal epilepsy with variable foci, Melanoma
RS1556539065 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556553319 STAG2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556586479 PEX26 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 7A (Zellweger)
RS1556589033 PEX26 Health Risk Likely pathogenic —
RS1556590594 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS1556607762 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1556608580 DEPDC5 Health Risk Likely pathogenic —
RS1556617455 SLC9A6 Health Risk Pathogenic Christianson syndrome, Thyroid cancer
RS1556619319 SH2D1A Health Risk Likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS1556620027 SLC9A6 Health Risk Pathogenic —
RS1556620697 SH2D1A Health Risk Likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS1556620698 SH2D1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556620706 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS1556635817 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS1556638935 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1556639109 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1556639151 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1556639352 FHL1 Health Risk Pathogenic Uruguay Faciocardiomusculoskeletal syndrome, Thyroid cancer
RS1556639379 FHL1 Health Risk Pathogenic/Likely pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1556639771 FHL1 Health Risk Likely pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1556641290 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556642578 MYH9 Health Risk Likely pathogenic —
RS1556656077 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556656184 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556656298 DMD Health Risk Pathogenic —
RS1556656456 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556656487 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556656767 DMD Health Risk Pathogenic —
RS1556656818 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556656847 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556656851 DMD Health Risk Pathogenic Dystrophin deficiency, Duchenne muscular dystrophy
RS1556656895 DMD Health Risk Likely pathogenic —
RS1556665052 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556665303 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556669808 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
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