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
RS1325345116 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS1325349483 SMAD6 Health Risk Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1325355975 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1325368359 MYO5B Health Risk Likely pathogenic —
RS1325372369 DMXL2 Health Risk Pathogenic/Likely pathogenic DMXL2-related disorder, DMXL2-related disorder
RS1325388159 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1325394060 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS1325394520 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1325403451 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Neoplasm
RS1325403863 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1325414473 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1325419198 CNGA3 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1325419598 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1325443043 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1325453230 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1325458157 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS1325458165 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1325460408 GATM Health Risk Likely pathogenic Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 1
RS1325461375 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS13255101 GPAA1 Health Risk Conflicting classifications of pathogenicity GPAA1-related disorder, Glycosylphosphatidylinositol biosynthesis defect 15
RS1325525794 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome
RS1325528399 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS1325609596 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1325611711 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1325615258 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1325661354 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1325668081 USH2A Health Risk Pathogenic —
RS1325669112 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1325681486 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal disorder
RS1325690140 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1325693451 PKDCC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1325697290 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1325704409 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1325710910 OTOGL Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1325718181 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1325732095 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS1325751815 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1325771720 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1325784701 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS1325784914 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS1325791118 SLC38A8 Health Risk Likely pathogenic —
RS1325798552 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1325804776 DSG4 Health Risk Likely pathogenic Hypotrichosis 6, Hypotrichosis 6
RS1325807867 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1325815399 SZT2 Health Risk Pathogenic —
RS1325816562 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1325819099 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1325835006 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1325836054 NKX2-1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Benign hereditary chorea
RS1325845862 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1325848718 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1325869434 DDRGK1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Shohat type
RS1325874616 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1325914775 EXOSC3 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B
RS1325924035 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1325941288 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1325949559 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1325951163 BRAF Health Risk Conflicting classifications of pathogenicity Global developmental delay, Noonan syndrome and Noonan-related syndrome
RS1325953089 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS1325957874 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Congenital stationary night blindness autosomal dominant 2
RS1325973604 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1325986563 GSS Health Risk Likely pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS1325993773 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1325994522 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Porokeratosis 3
RS1325999341 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1326022839 PROM1 Health Risk Pathogenic Retinal macular dystrophy type 2, Retinitis pigmentosa 41
RS1326027590 MADD Health Risk Pathogenic Deeah syndrome, Deeah syndrome
RS1326036403 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1326042797 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1326049626 FN1 Health Risk Conflicting classifications of pathogenicity —
RS1326077397 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1326092141 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1326114075 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1326123837 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Phosphate transport defect
RS1326163718 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1326172406 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS1326253995 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1326254168 ABCA3 Health Risk Pathogenic —
RS1326268854 RELA Health Risk Pathogenic/Likely pathogenic Mucocutaneous ulceration, chronic
RS1326270579 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1326271684 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS1326276839 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1326281375 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS132630258 CFP Health Risk Pathogenic Properdin deficiency, X-linked
RS132630260 CFP Health Risk Pathogenic Properdin deficiency, X-linked
RS132630261 CFP Health Risk Pathogenic Properdin deficiency, type III
RS132630262 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS132630263 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS132630264 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS132630265 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS132630266 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS132630267 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS132630268 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS132630269 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS132630270 WAS Health Risk Pathogenic Thrombocytopenia 1, Thrombocytopenia 1
RS132630271 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS132630272 WAS Health Risk Likely pathogenic WISKOTT-ALDRICH SYNDROME, ATTENUATED
RS132630273 WAS Health Risk Likely pathogenic Thrombocytopenia 1, Thrombocytopenia
RS132630274 WAS Health Risk Pathogenic/Likely pathogenic X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS132630275 WAS Health Risk Likely pathogenic THROMBOCYTOPENIA, X-LINKED
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