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
RS2524260150 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524260307 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524263141 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524263343 COL11A1 Health Risk Likely pathogenic COL11A1-related disorder, COL11A1-related disorder
RS2524264000 COL11A1 Health Risk Likely pathogenic COL11A1-related disorder, COL11A1-related disorder
RS2524267221 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524268975 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524271761 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524271890 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524273545 MUTYH Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2524273974 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524274573 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastric cancer
RS2524275031 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524276243 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524277188 GNAI3 Health Risk Likely pathogenic —
RS2524277212 GNAI3 Health Risk Likely pathogenic Auriculocondylar syndrome 1, Auriculocondylar syndrome 1
RS2524279750 MYSM1 Health Risk Pathogenic —
RS2524280386 MYSM1 Health Risk Likely pathogenic Bone marrow failure syndrome 4, Bone marrow failure syndrome 4
RS2524281792 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524282171 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524282719 COL4A5 Health Risk Pathogenic —
RS2524283034 COL4A5 Health Risk Likely pathogenic —
RS2524283273 COL4A5 Health Risk Likely pathogenic —
RS2524283822 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524284138 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524284551 MYSM1 Health Risk Pathogenic —
RS2524285007 COL4A5 Health Risk Pathogenic —
RS2524285018 COL4A5 Health Risk Likely pathogenic —
RS2524285124 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524285749 MYSM1 Health Risk Pathogenic —
RS2524285979 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524286564 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524289902 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524295993 DNAJB4 Health Risk Pathogenic Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure
RS2524296398 DNAJB4 Health Risk Pathogenic Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure
RS2524299320 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524299345 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524299734 CDC14A Health Risk Likely pathogenic —
RS2524305660 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524305677 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2524307697 COL4A5 Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2524307924 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, Thyroid cancer
RS2524308059 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524308291 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524308395 COL4A5 Health Risk Likely pathogenic —
RS2524308688 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524308731 COL4A5 Health Risk Pathogenic —
RS2524308896 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524308940 COL4A5 Health Risk Pathogenic —
RS2524309001 COL4A5 Health Risk Likely pathogenic —
RS2524309012 COL4A5 Health Risk Likely pathogenic —
RS2524313782 COL4A5 Health Risk Pathogenic —
RS2524313994 COL4A5 Health Risk Pathogenic —
RS2524314322 COL4A5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2524314385 COL4A5 Health Risk Pathogenic —
RS2524314766 COL4A5 Health Risk Likely pathogenic —
RS2524315244 COL4A5 Health Risk Pathogenic —
RS2524322289 VPS13D Health Risk Pathogenic —
RS2524323517 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524323724 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524324196 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524325219 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524325278 COL4A5 Health Risk Pathogenic —
RS2524325627 COL4A5 Health Risk Pathogenic —
RS2524325659 COL4A5 Health Risk Pathogenic —
RS2524325726 COL4A5 Health Risk Pathogenic —
RS2524325761 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524325836 COL4A5 Health Risk Likely pathogenic —
RS2524325926 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS2524326032 COL4A5 Health Risk Likely pathogenic —
RS2524326208 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524327169 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524328004 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524328425 COL4A5 Health Risk Likely pathogenic —
RS2524328506 COL4A5 Health Risk Pathogenic —
RS2524328561 COL4A5 Health Risk Pathogenic —
RS2524328643 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524328741 COL4A5 Health Risk Pathogenic See cases, See cases
RS2524328750 COL4A5 Health Risk Pathogenic See cases, See cases
RS2524328777 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2524328853 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524329089 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524330554 CDC14A Health Risk Pathogenic —
RS2524330840 MYSM1 Health Risk Pathogenic —
RS2524331289 CLCNKA Health Risk Likely pathogenic Bartter disease type 4B, Bartter disease type 4B
RS2524332896 COL4A5 Health Risk Pathogenic —
RS2524332908 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524332992 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524333149 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524333211 COL4A5 Health Risk Pathogenic —
RS2524333227 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524333986 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2524335869 COL11A1 Health Risk Likely pathogenic —
RS2524336523 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS2524338495 GNAT2 Health Risk Pathogenic —
RS2524338502 GNAT2 Health Risk Pathogenic —
RS2524344930 GNAT2 Health Risk Likely pathogenic —
RS2524346214 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524346601 COL4A5 Health Risk Likely pathogenic —
RS2524347107 COL4A5 Health Risk Pathogenic —
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