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
RS2541884578 POLE Health Risk Pathogenic —
RS2541885429 POLE Health Risk Pathogenic —
RS2541885548 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541885885 POLE Health Risk Pathogenic —
RS2541886499 POLE Health Risk Likely pathogenic —
RS2541887517 POLE Health Risk Pathogenic —
RS2541887540 POLE Health Risk Pathogenic —
RS2541887724 POLE Health Risk Pathogenic —
RS2541888049 POLE Health Risk Pathogenic —
RS2541889602 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541891322 POLE Health Risk Likely pathogenic —
RS2541891452 POLE Health Risk Pathogenic —
RS2541893689 POLE Health Risk Pathogenic —
RS2541897696 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS2541898218 SMAD6 Health Risk Likely pathogenic —
RS2541899899 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2541899936 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2541900116 SMAD6 Health Risk Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2541900238 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2541900264 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2541900385 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2541902277 POLE Health Risk Pathogenic —
RS2541903490 POLE Health Risk Likely pathogenic POLE-related disorder, POLE-related disorder
RS2541910203 VPS13C Health Risk Pathogenic —
RS2541927522 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541932405 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2541936326 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2541936647 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2541936716 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2541940200 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2541941372 SPTAN1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2541942149 POLE Health Risk Pathogenic —
RS2541944514 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541948100 POLE Health Risk Pathogenic —
RS2541949935 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2541950774 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2541951597 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2541951817 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2541952847 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS2541953292 POLE Health Risk Pathogenic —
RS2541953376 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2541953524 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541954580 POLE Health Risk Pathogenic —
RS2541955127 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541955334 POLE Health Risk Pathogenic —
RS2541955840 POLE Health Risk Pathogenic —
RS2541965807 RORA Health Risk Likely pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2541966112 RORA Health Risk Likely pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2541973548 POLR3B Health Risk Likely pathogenic —
RS2541974207 RORA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2541982138 CEP164 Health Risk Pathogenic/Likely pathogenic CEP164-related disorder, Nephronophthisis 15
RS2541983871 GATM Health Risk Conflicting classifications of pathogenicity Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2541984182 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2541984266 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2541986290 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2541989303 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2541994504 RORA Health Risk Pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2541994594 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2541995490 ADSS1 Health Risk Conflicting classifications of pathogenicity —
RS2541997209 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2541998068 POLE Health Risk Pathogenic —
RS2541998509 POLE Health Risk Pathogenic —
RS2541998903 POLE Health Risk Pathogenic —
RS2541998982 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541998998 POLE Health Risk Pathogenic —
RS2542002104 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542002493 POLE Health Risk Pathogenic —
RS2542005145 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2542006088 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2542007172 POLE Health Risk Likely pathogenic —
RS2542007203 POLE Health Risk Likely pathogenic —
RS2542007430 POLE Health Risk Pathogenic —
RS2542007724 POLE Health Risk Pathogenic —
RS2542008543 POLE Health Risk Pathogenic —
RS2542009211 POLE Health Risk Likely pathogenic POLE-related disorder, POLE-related disorder
RS2542009773 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2542009946 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2542022431 POLE Health Risk Pathogenic —
RS2542022469 POLE Health Risk Pathogenic —
RS2542026550 POLE Health Risk Pathogenic —
RS2542029970 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2542037480 KSR2 Health Risk Likely pathogenic KSR2-related disorder, KSR2-related disorder
RS2542040039 ADSS1 Health Risk Pathogenic —
RS2542040863 POLE Health Risk Pathogenic —
RS2542046126 POLE Health Risk Pathogenic —
RS2542046751 POLE Health Risk Pathogenic —
RS2542046843 POLE Health Risk Pathogenic —
RS2542049088 RORA Health Risk Likely pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2542049491 ADSS1 Health Risk Pathogenic —
RS2542051635 RORA Health Risk Pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2542051691 RORA Health Risk Pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2542052131 RORA Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2542061584 KSR2 Health Risk Likely pathogenic KSR2-related disorder, KSR2-related disorder
RS2542062300 POLE Health Risk Pathogenic —
RS2542062750 POLE Health Risk Pathogenic —
RS2542066600 POLE Health Risk Pathogenic Myoepithelial tumor, Myoepithelial tumor
RS2542073001 RORA Health Risk Pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2542073242 POLE Health Risk Pathogenic —
RS2542073442 POLE Health Risk Pathogenic —
RS2542073597 POLR3B Health Risk Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
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