SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS930563925 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS930578096 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS930632087 ATP8A2 Health Risk Conflicting classifications of pathogenicity —
RS930688767 OTOG Health Risk Pathogenic —
RS930692973 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS930701747 CLDN10 Health Risk Pathogenic HELIX syndrome, HELIX syndrome
RS930735351 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS930744713 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS930770110 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS930778822 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS930795278 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS930801019 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS930802593 HBB Health Risk Conflicting classifications of pathogenicity —
RS930806559 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS930832327 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS930995541 EPRS1 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS930997590 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS931018661 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS931041761 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Hypophosphatasia
RS931042621 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS931046977 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS931048225 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS931050690 SALL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Townes syndrome
RS931068297 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS931073338 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS931093296 ABCB4 Health Risk Pathogenic Low phospholipid associated cholelithiasis, Low phospholipid associated cholelithiasis
RS931193038 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy 6
RS931279960 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Inborn genetic diseases
RS931293134 HSPG2 Health Risk Pathogenic —
RS931355796 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS931374138 CELSR1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Severe NDD
RS931395990 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS931429034 MRPS2 Health Risk Conflicting classifications of pathogenicity —
RS931436550 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS931466859 FGD1 Health Risk Pathogenic FGD1-related disorder, Intellectual disability
RS931476373 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS931491187 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS931492981 TBX20 Health Risk Pathogenic —
RS931510421 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS931555570 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS931570987 RPS24 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
RS931606172 PPP1R12A Health Risk Conflicting classifications of pathogenicity —
RS931627770 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS931654806 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS931702374 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS931715719 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS931801909 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS931802079 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS931898655 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS931906767 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis
RS931911802 LOXHD1 Health Risk Pathogenic LOXHD1-related disorder, LOXHD1-related disorder
RS931949929 SCN1B Health Risk Pathogenic Developmental and epileptic encephalopathy, 52
RS932019598 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS932032926 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS932043593 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS932095325 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS932161061 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS932171818 MYO5B Health Risk Pathogenic —
RS932173199 CACNA1A Health Risk Conflicting classifications of pathogenicity —
RS932177093 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS932183417 DEGS1 Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS932191004 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS932196144 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS932207890 COL4A3 Health Risk Pathogenic —
RS932213064 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS932238098 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, PEX5-related disorder
RS932256543 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS932260939 PHEX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS932266011 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS932327641 RTTN Health Risk Likely pathogenic —
RS932364060 BBS9 Health Risk Likely pathogenic BBS9-related disorder, Bardet-Biedl syndrome
RS932381652 HPS5 Health Risk Likely pathogenic —
RS932391748 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS932395531 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS932403379 DUOX2 Health Risk Pathogenic —
RS932467788 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS932485786 ARX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS932486601 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS932494060 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS932525260 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS932538480 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS932552006 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS932588382 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS932622161 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS932654754 SZT2 Health Risk Pathogenic —
RS932657676 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS932659087 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS932660228 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS932681759 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS932710972 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS932713001 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia 1
RS932764622 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS932770906 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS932818172 LTV1 Health Risk Pathogenic Inflammatory poikiloderma with hair abnormalities and acral keratoses, Inflammatory poikiloderma with hair abnormalities and acral keratoses
RS932830392 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS932831703 SLC1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS932845258 ANOS1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS932851648 EVC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Curry-Hall syndrome
RS932897330 BBS7 Health Risk Likely pathogenic Retinitis pigmentosa, Inborn genetic diseases
RS932936700 TNFRSF11A Health Risk Pathogenic —
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