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
RS1297659569 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS1297661047 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1297688787 LPL Health Risk Conflicting classifications of pathogenicity Hypertriglyceridemia, Hyperlipoproteinemia
RS1297699863 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1297703150 DDX41 Health Risk Pathogenic Myelodysplasia, Inborn genetic diseases
RS1297718024 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1297737900 OCA2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS1297741376 SHOX Health Risk Pathogenic —
RS1297757024 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1297765168 MYO15A Health Risk Pathogenic —
RS1297766065 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1297784711 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS1297794582 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS1297805962 MN1 Health Risk Pathogenic/Likely pathogenic CEBALID syndrome, CEBALID syndrome
RS1297827509 USH2A Health Risk Pathogenic —
RS1297831120 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1297857806 ZMYND10 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1297857869 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1297869395 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, CACNA1C-related disorder
RS1297886521 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1297907614 FOXC1 Health Risk Pathogenic Anterior segment dysgenesis, Axenfeld-Rieger syndrome type 3
RS1297909281 PHOX2B Health Risk Pathogenic Haddad syndrome, Haddad syndrome
RS1297911790 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1297914465 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1297931573 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1297938234 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1297963302 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Pulmonary fibrosis and/or bone marrow failure syndrome
RS1297980569 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1297985227 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS1297994959 MTO1 Health Risk Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1298004609 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1298025872 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1298028827 TTN Health Risk Conflicting classifications of pathogenicity —
RS1298038896 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1298047912 HBA1 Health Risk Likely pathogenic alpha Thalassemia, alpha Thalassemia
RS1298056442 IBA57 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS1298081554 DNAH8 Health Risk Likely pathogenic —
RS1298081979 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1298082831 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1298089659 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1298106714 MEGF8 Health Risk Likely pathogenic Carpenter syndrome, Carpenter syndrome
RS1298115628 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS1298129961 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1298132281 CYP7B1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 5A
RS1298170960 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1298195804 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1298196178 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1298217152 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1298238512 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1298276806 BAP1;PHF7 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, BAP1-related tumor predisposition syndrome
RS1298299792 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder
RS1298313010 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1298313966 FH Health Risk Likely pathogenic —
RS1298315820 SYNJ1 Health Risk Conflicting classifications of pathogenicity Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS1298330895 MYO5B Health Risk Pathogenic/Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS1298336252 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1298347142 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS1298348124 IARS2 Health Risk Pathogenic —
RS1298361085 RDH5 Health Risk Pathogenic —
RS1298362744 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1298369560 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1298376008 MYPN Health Risk Pathogenic MYPN-related disorder, Dilated cardiomyopathy 1KK
RS1298378020 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1298389127 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1298419011 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS1298422871 FAM111A Health Risk Conflicting classifications of pathogenicity FAM111A-related disorder, See cases
RS1298424547 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS1298430398 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1298448088 SLC34A1 Health Risk Likely pathogenic SLC34A1-related disorder, SLC34A1-related disorder
RS1298463059 ZMYND10 Health Risk Likely pathogenic Primary ciliary dyskinesia 22, Primary ciliary dyskinesia 22
RS1298467427 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1298467711 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1298469624 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1298484645 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1298498718 LARP7 Health Risk Pathogenic —
RS1298504605 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1298505088 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1298530904 ENO3 Health Risk Pathogenic Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS1298538974 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1298543276 TGM1 Health Risk Pathogenic —
RS1298546985 MAK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS1298547542 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1298550035 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1298565919 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1298588355 TRRAP Health Risk Conflicting classifications of pathogenicity Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS1298596518 USH1C Health Risk Pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1298621011 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS1298649064 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1298654156 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1298655924 ABCA3 Health Risk Likely pathogenic Interstitial lung disease 2, Lung cancer
RS1298663120 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1298667185 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1298675805 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1298679975 ANO10 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1298687889 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1298704258 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS1298717770 IQCE Health Risk Likely pathogenic Polydactyly, postaxial
RS1298723259 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS1298734986 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1298746018 CEP120 Health Risk Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
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