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
RS768866511 C7 Health Risk Pathogenic —
RS768867302 CHRNG Health Risk Pathogenic/Likely pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS768867318 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768867418 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS768868045 ASXL1 Health Risk Conflicting classifications of pathogenicity ASXL1-related disorder, ASXL1-related disorder
RS768869197 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS768869912 AR Health Risk Pathogenic Prostate cancer, Prostate cancer
RS768870802 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS768872194 ITGB4 Health Risk Pathogenic —
RS768872827 DCPS Health Risk Likely pathogenic Al-Raqad syndrome, Al-Raqad syndrome
RS768873463 CACNA1A Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS768873662 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS768874309 CFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768876803 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768878280 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS768878455 SLC6A3 Health Risk Pathogenic —
RS768878508 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Inborn genetic diseases
RS768878991 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS768879342 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS768879429 LAMA1 Health Risk Pathogenic —
RS768879640 MGAT2 Health Risk Likely pathogenic —
RS768880396 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS768880752 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS768880930 HADH Health Risk Uncertain significance/Uncertain risk allele Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS768881056 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS768881769 ITGB3 Health Risk Pathogenic —
RS768884003 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS768884582 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS768884894 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS768885285 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS768885733 PHKB Health Risk Pathogenic/Likely pathogenic Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb
RS768886326 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS768886770 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS768886911 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS768888196 PTH1R Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS768889720 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768889857 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS768890368 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS768890728 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Inborn genetic diseases
RS768890752 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS768891477 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS768891680 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS768892432 DOK7 Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS768892512 NDUFS7 Health Risk Pathogenic —
RS768892830 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS768893184 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS768893360 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS768893724 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS768893872 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS768894507 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS768894698 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS768895653 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS768896988 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS768897804 COG4 Health Risk Conflicting classifications of pathogenicity COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS768897840 TTN Health Risk Conflicting classifications of pathogenicity —
RS768898787 CBL Health Risk Likely pathogenic —
RS768899178 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS768899304 EPB42 Health Risk Conflicting classifications of pathogenicity —
RS768899897 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS768902062 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS768902127 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS768903353 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS768903474 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS768904580 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768905244 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 12
RS768905490 GALNT12 Health Risk Conflicting classifications of pathogenicity GALNT12-related disorder, GALNT12-related disorder
RS768906272 DNAH5 Health Risk Conflicting classifications of pathogenicity DNAH5-related disorder, Primary ciliary dyskinesia
RS768906709 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS768907247 XPC Health Risk Pathogenic —
RS768907494 TG Health Risk Pathogenic —
RS768907730 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS768907834 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS768908934 SCLT1 Health Risk Conflicting classifications of pathogenicity —
RS768909087 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart
RS768909644 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS768913743 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS768913919 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS768913997 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS768914789 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS768915955 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS768915966 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS768917089 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS768917744 CEP152 Health Risk Pathogenic —
RS768918778 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS768918822 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS768918982 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768919244 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS768922431 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS768922690 SLC25A13 Health Risk Pathogenic/Likely pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia
RS768923402 RARS1 Health Risk Likely pathogenic —
RS768924966 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Inborn genetic diseases
RS768925221 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS768925619 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS768925694 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768925824 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS768926663 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS768927833 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS768928614 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS768929156 TMEM67 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Joubert syndrome
RS768929313 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
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