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
RS2524016367 STIL Health Risk Pathogenic Myoepithelial tumor, Myoepithelial tumor
RS2524016687 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524017181 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524023943 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524026293 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524026345 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524027479 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2524028270 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2524035532 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2524047809 ABCA4 Health Risk Likely pathogenic —
RS2524047814 ABCA4 Health Risk Likely pathogenic —
RS2524048067 ABCA4 Health Risk Pathogenic —
RS2524048090 ABCA4 Health Risk Likely pathogenic —
RS2524050386 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524051238 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524054030 VPS13D Health Risk Likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2524056466 VPS13D Health Risk Pathogenic —
RS2524063273 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524063437 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524063471 DBT Health Risk Likely pathogenic Maple syrup urine disease type 2, Maple syrup urine disease type 2
RS2524068789 LCA5 Health Risk Pathogenic —
RS2524070901 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524071268 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524072936 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524074403 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2524074680 DMD Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS2524074950 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2524075262 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524078674 VPS13D Health Risk Pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2524082011 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524082382 COL4A5 Health Risk Likely pathogenic —
RS2524082406 COL4A5 Health Risk Likely pathogenic —
RS2524085166 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524086364 ORC1 Health Risk Likely pathogenic —
RS2524086960 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524090518 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524094119 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524094344 DPYD Health Risk Pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524099521 JAK1 Health Risk Pathogenic Autoinflammation, immune dysregulation
RS2524100144 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2524103427 USP26 Health Risk Pathogenic Spermatogenic failure, X-linked
RS2524106032 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS2524106373 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524106384 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524106517 DBT Health Risk Likely pathogenic DBT-related disorder, DBT-related disorder
RS2524109140 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524109142 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2524111305 LDLRAP1 Health Risk Pathogenic Cardiovascular phenotype, Familial hypercholesterolemia
RS2524112772 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524122940 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524123917 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524124161 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524124793 CAMTA1 Health Risk Pathogenic See cases, See cases
RS2524127154 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524127909 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524128308 ATAD3A Health Risk Likely pathogenic Harel-Yoon syndrome, Pontocerebellar hypoplasia
RS2524136302 LDLRAP1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2524146862 DBT Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2524146899 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524147113 DBT Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2524147212 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524147444 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS2524147800 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524147997 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524148089 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524148155 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524148167 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524151547 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524152962 GLMN Health Risk Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS2524153154 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524153541 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524153852 DBT Health Risk Pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 2
RS2524154093 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524154110 GLMN Health Risk Pathogenic Glomuvenous malformation, Glomuvenous malformation
RS2524154333 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524154447 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524154624 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524154961 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524157635 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524158214 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524158645 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524160037 PAK3 Health Risk Likely pathogenic —
RS2524162250 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524162277 COL4A5 Health Risk Pathogenic —
RS2524162428 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524162796 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524162850 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524162912 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524162968 COL4A5 Health Risk Likely pathogenic —
RS2524163346 ORC1 Health Risk Pathogenic —
RS2524163534 ORC1 Health Risk Likely pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS2524164373 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524164534 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524164669 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524164689 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524164698 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524164751 DBT Health Risk Likely pathogenic Maple syrup urine disease type 2, Maple syrup urine disease type 1A
RS2524165156 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524165275 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2524179376 COL11A1 Health Risk Pathogenic —
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