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
RS769546986 SCN11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 7
RS769547477 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS769549131 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS769549511 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS769549962 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 20
RS769550271 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS769550316 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS769550602 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769551176 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS769551356 MTRFR Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Combined oxidative phosphorylation defect type 7
RS769552413 MBD4 Health Risk Pathogenic MBD4-related disorder, MBD4-related disorder
RS769554073 KCNJ1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS769554105 C8A Health Risk Likely pathogenic —
RS769554360 PMFBP1 Health Risk Pathogenic Spermatogenic failure 31, Spermatogenic failure 31
RS769554577 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS769555911 MAX Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma
RS769557047 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS769557305 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS769558016 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS769558291 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS769558309 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS769558791 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS769559126 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS769559267 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS769560873 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS769561057 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS769561363 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS769561386 LMNA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Charcot-Marie-Tooth disease type 2
RS769561543 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS769561588 GP9 Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS769562717 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS769563309 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS769564893 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS769566267 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS769566928 KDM6B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS769567624 CAD Health Risk Pathogenic Developmental and epileptic encephalopathy, 50
RS769568324 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS769568552 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS769569410 ABCC8 Health Risk Likely pathogenic Hereditary hyperinsulinism, Type 2 diabetes mellitus
RS769569937 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS769570290 COQ7 Health Risk Conflicting classifications of pathogenicity Primary coenzyme Q10 deficiency 8, Neuronopathy
RS769570326 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS769571173 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS769571473 COL1A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Osteogenesis imperfecta type I
RS769572282 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769572660 ZDBF2 Health Risk Conflicting classifications of pathogenicity —
RS769573100 SPART Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS769573395 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS769573516 TIA1 Health Risk Conflicting classifications of pathogenicity Welander distal myopathy, Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
RS769574342 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS769575051 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS769576678 DHX30 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language
RS769576700 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769576789 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia
RS769577154 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS769577208 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769577378 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS769577430 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS769579395 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS769579396 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS769579890 SMARCB1 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 1, Hereditary cancer-predisposing syndrome
RS769580546 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS769580746 SCNN1A Health Risk Pathogenic —
RS769580842 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS769581210 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS769581585 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS769582558 FLG Health Risk Pathogenic —
RS769582678 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS769582796 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS769583496 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, Hb SS disease
RS769583916 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS769585694 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS769586047 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS769587137 ASAH1 Health Risk Likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS769587233 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS769587333 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS769587438 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS769587871 CHD7 Health Risk Likely pathogenic —
RS769588220 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Autoinflammation with arthritis and vasculitis
RS769588312 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS769588424 FBN1 Health Risk Likely pathogenic Marfan syndrome, FBN1-related disorder
RS769588580 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS769588658 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS769588983 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS769589630 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS769589754 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS769589759 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS769590137 OTOGL Health Risk Pathogenic —
RS769590506 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Stickler syndrome type 1
RS769591140 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS769591944 EFHC1 Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy, juvenile
RS769592464 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS769592729 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS769592752 CHUK Health Risk Pathogenic —
RS769593170 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS769593495 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS769593715 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS769594971 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS769595182 LDLRAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS769595884 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
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