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
RS1433703349 RFWD3 Health Risk Conflicting classifications of pathogenicity —
RS143370662 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS143370729 AARS1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 29
RS143371162 FLNB Health Risk Conflicting classifications of pathogenicity —
RS143371620 AGMO Health Risk Conflicting classifications of pathogenicity AGMO-related disorder, AGMO-related disorder
RS143371801 FAM20A Health Risk Conflicting classifications of pathogenicity —
RS1433723046 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS143372639 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS143372872 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS143373007 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS1433745760 CHM Health Risk Pathogenic —
RS1433746078 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1433746199 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1433760506 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS143377172 TBX19 Health Risk Conflicting classifications of pathogenicity Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS143377309 IL11RA Health Risk Conflicting classifications of pathogenicity —
RS143378216 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder
RS1433783398 EIF2B4 Health Risk Conflicting classifications of pathogenicity —
RS1433783445 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS143378690 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS143378852 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS1433795312 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1433806086 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS143380907 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS1433816476 DNAH9 Health Risk Pathogenic —
RS143381873 SLC26A1 Health Risk Conflicting classifications of pathogenicity —
RS1433820460 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS143382568 ARVCF Health Risk Conflicting classifications of pathogenicity —
RS143382715 CAST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143383382 ARSL Health Risk Likely pathogenic —
RS1433852047 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1433859526 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143386224 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase deficiency
RS1433862850 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS143386487 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder
RS1433866863 HSPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 13, Spastic paraplegia
RS143386746 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1433868678 GRM6 Health Risk Pathogenic —
RS1433868957 LRP5 Health Risk Pathogenic —
RS143388122 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143388292 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS143388851 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS143388949 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1433893010 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1433893346 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS143389426 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143389605 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS143389941 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS143391593 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS143392665 ATP11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143393026 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS143393049 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143393575 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset
RS143393771 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Tibial muscular dystrophy
RS143393884 GANAB Health Risk Conflicting classifications of pathogenicity GANAB-related disorder, GANAB-related disorder
RS143394031 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS143394182 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS143395134 MC1R Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Skin and Hair Hypopigmentation
RS1433952909 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases
RS143396225 LRP5 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS143396390 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS1433965473 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS1433969585 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS143396975 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS143397183 C2CD3 Health Risk Pathogenic —
RS1433972399 NRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS143397927 PKP2 Health Risk Likely pathogenic —
RS143399084 COL17A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL17A1-related disorder
RS1433991680 NR2E3 Health Risk Pathogenic —
RS143399744 KCNQ2 Health Risk Pathogenic KCNQ2-related disorder, Early-infantile DEE
RS1434008042 PKLR Health Risk Pathogenic —
RS1434010689 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS143401208 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1434021544 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS143402711 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia
RS1434042239 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1434051128 ADGRV1 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS143405115 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS143405567 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia, Citrullinemia
RS143406017 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS143406263 GLI3 Health Risk Conflicting classifications of pathogenicity Polydactyly, postaxial
RS1434065199 KMT5B Health Risk Pathogenic —
RS1434069831 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, FANCD2-related disorder
RS1434072252 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS143407309 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS143408155 VARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS1434100445 CNGA3 Health Risk Pathogenic —
RS143410219 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS1434102843 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS143410330 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143410470 ANLN Health Risk Conflicting classifications of pathogenicity —
RS1434109608 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS143411142 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-related disorder
RS143411357 COQ8B Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 9
RS1434118781 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1434118877 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS143412169 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS143412184 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS1434123349 TBX20 Health Risk Pathogenic —
RS143413500 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
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