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
RS1830715947 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830717066 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830722833 VPS13A Health Risk Pathogenic —
RS1830724241 VPS13A Health Risk Likely pathogenic —
RS1830731482 RELN Health Risk Likely pathogenic —
RS1830740171 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1830753335 ABCA1 Health Risk Pathogenic —
RS183077332 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183077397 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS183077797 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS1830815799 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS183087139 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Inborn genetic diseases
RS183087425 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS183088493 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS183092299 CDKL5;RS1 Health Risk Conflicting classifications of pathogenicity Juvenile retinoschisis, RS1-related disorder
RS1830934754 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS1830947762 ABL1 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS1830947813 ABL1 Health Risk Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS1830948350 ABL1 Health Risk Conflicting classifications of pathogenicity Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS1830954329 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS1830959398 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS183097128 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS183101063 OCA2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1831038541 NSMF Health Risk Pathogenic Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome
RS1831052831 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS183105855 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
RS1831067002 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1831076152 VPS13A Health Risk Likely pathogenic —
RS1831079386 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1831081460 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1831082309 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1831082433 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1831097846 ABL1 Health Risk Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS1831099962 ABL1 Health Risk Pathogenic/Likely pathogenic ABL1-related disorder, ABL1-related disorder
RS1831100789 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS1831100970 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS1831103567 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1831124823 MAN1B1 Health Risk Likely pathogenic —
RS183114391 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS183114696 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1831149748 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1831150965 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1831159822 MAN1B1 Health Risk Likely pathogenic —
RS1831161564 TJP2 Health Risk Likely pathogenic —
RS1831165670 COL27A1 Health Risk Likely pathogenic —
RS183117027 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1831171802 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1831172189 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1831176210 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1831179586 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS183118123 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1831182314 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS1831182685 FRRS1L Health Risk Likely pathogenic —
RS1831183107 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1831184766 FRRS1L Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 37
RS1831189846 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1831190354 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1831191030 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1831192129 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS183119644 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1831209087 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS183126539 ZNF469 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Cardiovascular phenotype
RS1831271059 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS183130 CETP Health Risk association High density lipoprotein cholesterol level quantitative trait locus 10, High density lipoprotein cholesterol level quantitative trait locus 10
RS183130427 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS183130583 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS1831307625 FRRS1L Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 37
RS183131461 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1831316527 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS183136193 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Sarcotubular myopathy
RS1831388695 ABL1 Health Risk Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS183141256 CRPPA Health Risk Conflicting classifications of pathogenicity Congenital Muscular Dystrophy, alpha-dystroglycan related
RS183141566 RIN2 Health Risk Conflicting classifications of pathogenicity RIN2-related disorder, RIN2-related disorder
RS183142477 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1831432715 ABL1 Health Risk Pathogenic/Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS1831432776 ABL1 Health Risk Pathogenic/Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Microcephaly
RS1831433011 ABL1 Health Risk Pathogenic/Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS1831437006 WDR91 Health Risk Likely pathogenic —
RS183144150 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS1831457676 VPS13A Health Risk Pathogenic —
RS183149417 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1831540545 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1831540987 RELN Health Risk Likely pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS1831543477 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS183154447 AFG2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1831596883 LHX3 Health Risk Likely pathogenic —
RS183159689 OTOGL Health Risk Conflicting classifications of pathogenicity Hearing impairment, OTOGL-related disorder
RS183161718 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1831666357 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS1831669014 KCNT1 Health Risk Pathogenic —
RS183168007 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, LCT-related disorder
RS1831680321 LHX3 Health Risk Likely pathogenic —
RS1831682062 LHX3 Health Risk Pathogenic —
RS1831682631 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
RS183168709 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS183171123 ACSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1831725857 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1831726447 RELN Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS1831789627 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS1831817207 INVS Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis
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