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
RS1453504440 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS145350474 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS145350631 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Inborn genetic diseases
RS1453508139 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS145350949 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Inborn genetic diseases
RS1453510719 SPR Health Risk Conflicting classifications of pathogenicity Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS145351367 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS145351589 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Inborn genetic diseases
RS145351963 RBFOX1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Inborn genetic diseases
RS145352110 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS145352569 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Myosclerosis
RS145352934 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS1453532929 AMMECR1 Health Risk Conflicting classifications of pathogenicity —
RS1453533016 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS145353444 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS145353541 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Retinal dystrophy
RS145354256 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Cardiovascular phenotype
RS145355104 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS145355907 COL1A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Predisposition to dissection
RS145356388 MMP19 Health Risk Conflicting classifications of pathogenicity —
RS145356495 PREPL Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS145356792 MSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1453568434 COL7A1 Health Risk Pathogenic —
RS145357582 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS1453585230 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1453590085 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS145360241 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS145360423 NCF1 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS145360792 HNF4A Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 1
RS145361083 PGAP6 Health Risk Conflicting classifications of pathogenicity —
RS145361258 SIM1 Health Risk Conflicting classifications of pathogenicity Obesity due to SIM1 deficiency, SIM1-related disorder
RS145361574 SATB1 Health Risk Conflicting classifications of pathogenicity Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
RS145361939 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS145362059 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS145362161 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS145362529 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, LRP5-related disorder
RS145362908 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1453641005 POMT1 Health Risk Likely pathogenic —
RS1453646167 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS145365423 LZTS1 Health Risk Conflicting classifications of pathogenicity —
RS145365677 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS145365776 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS145366078 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS145366738 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS145367055 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS145367849 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Sarcoma
RS145368798 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS145369252 CABP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 93, Nonsyndromic genetic hearing loss
RS1453695821 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS145369754 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type I
RS1453700499 MAK Health Risk Likely pathogenic —
RS145370736 SERPIND1 Health Risk Conflicting classifications of pathogenicity SERPIND1-related disorder, SERPIND1-related disorder
RS1453708640 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS145371235 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS145371658 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Inborn genetic diseases
RS1453717899 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1453718975 MYO7A Health Risk Pathogenic Usher syndrome type 1B, Usher syndrome type 1B
RS145372075 AHI1 Health Risk Conflicting classifications of pathogenicity AHI1-related disorder, AHI1-related disorder
RS145372387 HPDL Health Risk Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia
RS145372405 POU4F3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 15, POU4F3-related disorder
RS145373075 CTSC Health Risk Conflicting classifications of pathogenicity Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS145373149 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145373396 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS145373839 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS145373891 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS1453752069 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS145375625 DNAH3 Health Risk Conflicting classifications of pathogenicity —
RS1453761645 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1453766111 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS145377049 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1453773610 POMT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1453780248 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS145378038 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder
RS145378071 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, See cases
RS1453785436 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1453792999 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1453794304 COL7A1 Health Risk Likely pathogenic —
RS145379710 SLC45A2 Health Risk Pathogenic/Likely pathogenic SLC45A2-related disorder, Oculocutaneous albinism type 4
RS145380453 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
RS145381088 COL7A1 Health Risk Conflicting classifications of pathogenicity COL7A1-related disorder, Inborn genetic diseases
RS145381639 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1453829048 MPDZ Health Risk Pathogenic —
RS145383120 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1453839157 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS145383974 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS1453842331 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS145384260 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1453857349 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1453858339 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1453864069 EXOSC9 Health Risk Pathogenic —
RS145386421 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS1453865021 COG6 Health Risk Likely pathogenic Inborn genetic diseases, COG6-related disorder
RS145386883 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS145387010 ANKRD1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, ANKRD1-related dilated cardiomyopathy
RS145387062 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS145387081 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1453871309 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS145387221 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS145387373 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145387575 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
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