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
RS1312511221 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1312522259 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1312528958 ALPL Health Risk Pathogenic Hypophosphatasia, Infantile hypophosphatasia
RS1312537519 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1312555296 TRAPPC2 Health Risk Pathogenic/Likely pathogenic —
RS1312589379 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1312607495 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset
RS1312613088 TTN Health Risk Likely pathogenic Tibial muscular dystrophy, Tibial muscular dystrophy
RS1312622774 EOGT Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
RS1312633998 GRM7 Health Risk Pathogenic —
RS1312664315 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1312672769 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1312678560 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1312683854 GP1BA Health Risk Pathogenic —
RS1312702973 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1312712049 CCDC40 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS1312714061 SCN5A Health Risk Likely pathogenic —
RS1312716558 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1312725371 DOCK8 Health Risk Pathogenic -, -
RS1312735736 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1312739762 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS1312743513 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1312750144 ITGA6 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 6
RS1312758061 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1312765862 CPAMD8 Health Risk Likely pathogenic Anterior segment dysgenesis 8, Anterior segment dysgenesis 8
RS1312772215 EIF2B5 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5
RS1312776461 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS1312837709 TRIM37 Health Risk Likely pathogenic —
RS1312854010 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1312862210 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS1312865574 KIAA0753 Health Risk Pathogenic Joubert syndrome 38, Joubert syndrome 38
RS1312908190 VWF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1312908957 OCA2 Health Risk Likely pathogenic —
RS1312967591 OCA2 Health Risk Pathogenic Oculocutaneous albinism, Oculocutaneous albinism
RS1312971608 UBE3A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Angelman syndrome
RS1312980498 FOXH1 Health Risk Likely pathogenic Conotruncal defect, Conotruncal defect
RS1313006784 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1313008538 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS1313027554 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1313042151 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS1313055571 COL27A1 Health Risk Pathogenic —
RS1313057342 NBAS Health Risk Likely pathogenic —
RS1313066818 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1313068805 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1313071575 UBA5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 44
RS1313081073 GATA2 Health Risk Pathogenic/Likely pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1313088429 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1313089322 NEB Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS1313098392 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1313101326 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1313103908 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1313114326 SMAD3 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1313115089 AGBL5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1313120333 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1313143328 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1313151909 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1313165721 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1313166263 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1313171285 SPOP Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
RS1313203471 ADGRV1 Health Risk Pathogenic —
RS1313206550 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1313207845 RFXAP Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency 4
RS1313233245 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1313255190 PKD2 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS1313261352 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1313275799 AP4E1 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, Hereditary spastic paraplegia 51
RS1313277352 SLC16A2 Health Risk Likely pathogenic SLC16A2-related disorder, SLC16A2-related disorder
RS1313315549 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1313316497 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1313319587 NOTCH3 Health Risk Pathogenic —
RS1313319892 POGZ Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1313331250 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1313335539 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1313340299 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS1313353571 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1313359281 SC5D Health Risk Conflicting classifications of pathogenicity Lathosterolosis, Lathosterolosis
RS1313375310 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1313391525 ABCC2 Health Risk Pathogenic —
RS1313418437 AMHR2 Health Risk Pathogenic —
RS1313430297 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1313433161 NR2F1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1313473522 MRPS34 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 32, Combined oxidative phosphorylation deficiency 32
RS1313497913 SNAP29 Health Risk Pathogenic —
RS1313498386 MYH2 Health Risk Pathogenic/Likely pathogenic Myopathy, proximal
RS1313545397 AK9 Health Risk Pathogenic Spermatogenic failure 89, Spermatogenic failure 89
RS1313558579 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1313576315 HPS3 Health Risk Pathogenic —
RS1313578208 LDLR Health Risk Pathogenic/Likely pathogenic Homozygous familial hypercholesterolemia, Familial hypercholesterolemia
RS1313590454 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1313593155 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Retinal dystrophy
RS1313627454 CASR Health Risk Likely pathogenic Neonatal severe primary hyperparathyroidism, Neonatal severe primary hyperparathyroidism
RS1313627984 MSRB3 Health Risk Likely pathogenic —
RS1313634930 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1313637057 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS1313637977 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1313639936 NR1H4 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1313658611 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1313663918 RBM8A Health Risk Pathogenic —
RS1313679502 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1313708855 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
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