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
RS1908140880 SOX9 Health Risk Pathogenic —
RS1908142392 SOX9 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1908142618 SOX9 Health Risk Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS190814667 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS190814774 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS1908204839 SOX9 Health Risk Pathogenic —
RS1908300748 AFG3L2 Health Risk Pathogenic Optic atrophy 12, Spastic paraparesis
RS190830121 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1908307291 B9D1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1908309088 AFG3L2 Health Risk Pathogenic Intellectual disability, Optic atrophy
RS190835338 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1908369114 AFG3L2 Health Risk Pathogenic Optic atrophy, Reduced tendon reflexes
RS1908371616 AFG3L2 Health Risk Likely pathogenic Sensorineural hearing loss disorder, Optic atrophy
RS190841442 FGF23 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS190841601 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1908507433 AFG3L2 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS1908508905 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS190853081 APOE Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alzheimer disease 2
RS190853310 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS190853693 SAG Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa
RS190854744 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS1908566777 AFG3L2 Health Risk Likely pathogenic Optic atrophy 12, Optic atrophy 12
RS1908593639 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1908594231 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1908668408 SCN4A Health Risk Likely pathogenic Congenital myasthenic syndrome 16, Congenital myasthenic syndrome 16
RS190867604 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS190867671 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS190868473 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS1908688683 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1908691206 SCN4A Health Risk Likely pathogenic SCN4A-related non-dystrophic myotonia, SCN4A-related non-dystrophic myotonia
RS1908762801 CHRNB1 Health Risk Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS190876509 AAAS Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS190878719 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS190881240 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS190885103 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS190887679 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1908916380 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1908920447 ITGA3 Health Risk Likely pathogenic —
RS1908964770 B9D1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS190897143 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS190897990 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS1908992563 CHRNB1 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS1908994498 CHRNB1 Health Risk Pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS190900560 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1909032484 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS190903270 USP53 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, USP53-related disorder
RS1909033869 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909034163 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909035155 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909037144 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909038050 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909040577 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909055310 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909055807 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909056519 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909057323 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909057938 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS190906444 ZCCHC12 Health Risk Conflicting classifications of pathogenicity —
RS190906755 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, CDHR1-related disorder
RS1909078308 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909079256 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909079392 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1909088511 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909091672 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS190909610 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS190910161 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS190910346 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS190912679 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1909137923 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909139691 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909144433 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909145179 APRT Health Risk Pathogenic —
RS1909145695 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1909147057 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS190914906 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1909160707 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS190916587 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS190917891 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS190921137 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
RS190922596 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS1909238157 PMP22 Health Risk Likely pathogenic —
RS1909238801 PMP22 Health Risk Likely pathogenic —
RS1909244614 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1909248652 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS190925009 TET3 Health Risk Conflicting classifications of pathogenicity —
RS190928557 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS190929421 KMT2B Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome 1
RS190935424 SGCD Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS1909376846 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS190938950 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS190940697 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS1909453191 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS190947144 ENPP1 Health Risk Conflicting classifications of pathogenicity —
RS1909497237 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1909519361 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1909527513 SUZ12 Health Risk Pathogenic/Likely pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS1909531869 ATP8B1 Health Risk Pathogenic —
RS1909534341 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS1909551923 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1909571836 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
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