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
RS1197195532 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1197198353 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1197219692 CNPY3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 60
RS1197236198 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1197237618 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1197238841 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1197263675 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1197305103 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1197311272 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1197381768 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1197382689 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS1197421698 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1197426645 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1197432552 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1197449920 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1197456861 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS1197476541 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1197494895 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Male infertility with spermatogenesis disorder
RS1197523487 TRIM37 Health Risk Pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1197529917 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1197530646 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1197539689 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS1197542093 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS1197551054 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1197561990 NEB Health Risk Likely pathogenic Inborn genetic diseases, Nemaline myopathy 2
RS1197563846 PTPRQ Health Risk Likely pathogenic Hearing loss, autosomal dominant 73
RS1197587893 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1197613485 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS1197619498 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1197622697 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Inborn genetic diseases
RS1197633531 UMOD Health Risk Likely pathogenic Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
RS1197665953 KCNK4 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1197692311 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1197719763 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1197719947 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1197741113 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1197751092 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS1197761705 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1197764455 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS1197771764 TMCO1 Health Risk Likely pathogenic Craniofacial dysmorphism, skeletal anomalies
RS1197820814 PKP2 Health Risk Pathogenic Familial isolated arrhythmogenic right ventricular dysplasia, Familial isolated arrhythmogenic right ventricular dysplasia
RS11978267 IKZF1 Health Risk association Leukemia, acute lymphocytic
RS1197831794 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1197833925 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, Inborn genetic diseases
RS1197846053 BMP2 Health Risk Pathogenic —
RS1197863938 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1197870764 SETD5 Health Risk Pathogenic Developmental disorder, Developmental disorder
RS1197928094 SPTLC1 Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS1197935007 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1197938479 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1197945739 COA7 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS1197948600 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1197950867 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1197978360 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS1197978742 PHKA1 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS1197982563 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1198014194 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1198019350 TCN2 Health Risk Pathogenic/Likely pathogenic Transcobalamin II deficiency, TCN2-related disorder
RS1198051503 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1198060288 COMP Health Risk Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS1198074890 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS1198082830 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1198103383 TRDN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1198122970 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS1198127456 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS1198138077 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1198152064 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
RS1198164523 FMO3 Health Risk Pathogenic —
RS1198170033 COQ8A Health Risk Likely pathogenic —
RS1198183960 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS1198188652 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1198203108 RORA Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1198204828 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1198210140 IL1RAPL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1198210848 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1198218816 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1198241866 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1198246754 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1198247451 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1198251463 CACNA1F Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1198251679 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1198256157 CEACAM16 Health Risk Likely pathogenic Hearing loss, autosomal recessive 113
RS1198259611 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1198273560 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1198276041 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1198289499 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1198292264 COQ2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS1198314410 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1198336361 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1198337036 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1198359147 PIGW Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases
RS1198364572 TTN Health Risk Likely pathogenic Myopathy, Dilated cardiomyopathy 1G
RS1198379006 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1198380114 CDH3 Health Risk Pathogenic —
RS1198423647 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1198430908 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1198436026 CEP135 Health Risk Likely pathogenic —
RS1198436520 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1198438958 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1198455162 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
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