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
RS2524179405 COL4A5 Health Risk Likely pathogenic —
RS2524179657 NFIA Health Risk Pathogenic —
RS2524179769 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524179770 NFIA Health Risk Pathogenic —
RS2524179794 NFIA Health Risk Pathogenic Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects
RS2524179813 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524179835 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524181970 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524189017 DMD Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2524189062 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524193671 COL11A1 Health Risk Pathogenic —
RS2524195963 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524195981 COL4A5 Health Risk Likely pathogenic —
RS2524196706 COL4A5 Health Risk Pathogenic —
RS2524196795 COL4A5 Health Risk Likely pathogenic —
RS2524196968 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2524196982 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524197153 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524198581 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524199429 NFIA Health Risk Pathogenic —
RS2524199730 VPS13D Health Risk Pathogenic —
RS2524200215 NFIA Health Risk Pathogenic —
RS2524200686 NFIA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2524200716 NFIA Health Risk Pathogenic —
RS2524200871 NFIA Health Risk Likely pathogenic Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects
RS2524201051 NFIA Health Risk Likely pathogenic —
RS2524201617 DYM Health Risk Likely pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2524203249 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS2524204010 ATAD3A Health Risk Conflicting classifications of pathogenicity ATAD3A-related condition, ATAD3A-related condition
RS2524204781 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524205825 ARHGAP29 Health Risk Likely pathogenic ARHGAP29-related disorder, ARHGAP29-related disorder
RS2524206318 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524206768 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524207205 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524207795 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524209758 COL4A5 Health Risk Likely pathogenic —
RS2524209858 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524212771 ATAD3A Health Risk Likely pathogenic Harel-Yoon syndrome, Harel-Yoon syndrome
RS2524214246 PAK3 Health Risk Likely pathogenic Intellectual disability, X-linked 30
RS2524215565 RAB39B Health Risk Pathogenic —
RS2524216149 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524216359 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524216449 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, Thyroid cancer
RS2524216621 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524216795 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524216875 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524217135 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS2524219849 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524220280 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524220978 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524222177 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524225282 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524225532 COL4A5 Health Risk Pathogenic —
RS2524225680 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524226891 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524227371 GLMN Health Risk Pathogenic —
RS2524233174 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2524234008 COL4A5 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2524234146 COL4A5 Health Risk Pathogenic —
RS2524234179 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524234474 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524234713 COL4A5 Health Risk Pathogenic —
RS2524234935 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524235865 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524235917 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524235953 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, X-linked Alport syndrome
RS2524235970 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524236030 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524236343 COL4A5 Health Risk Pathogenic —
RS2524236373 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524243178 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524243548 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524243658 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524243984 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524244122 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524244170 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524244259 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524244745 COL11A1 Health Risk Likely pathogenic —
RS2524245019 COL4A5 Health Risk Likely pathogenic —
RS2524245254 COL4A5 Health Risk Likely pathogenic —
RS2524245423 COL4A5 Health Risk Pathogenic —
RS2524245428 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524245571 DMD Health Risk Pathogenic DMD-related disorder, DMD-related disorder
RS2524245595 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524245625 COL4A5 Health Risk Likely pathogenic —
RS2524246510 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524247635 COL11A1 Health Risk Likely pathogenic —
RS2524250418 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524254464 COL4A5 Health Risk Pathogenic —
RS2524254479 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524254589 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524254615 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524254673 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524254870 COL4A5 Health Risk Pathogenic —
RS2524255372 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524255388 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524255933 COL11A1 Health Risk Likely pathogenic COL11A1-related disorder, COL11A1-related disorder
RS2524258876 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524259917 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524260004 COL4A5 Health Risk Pathogenic —
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