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
RS1024370144 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS1024374408 LAMA2 Health Risk Conflicting classifications of pathogenicity Myalgia, Elevated circulating creatine kinase concentration
RS1024384980 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS1024441903 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1024449251 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1024449397 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1024452431 CRELD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1024469208 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1024484381 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1024499799 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS1024522369 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1024524968 DYSF Health Risk Conflicting classifications of pathogenicity Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1024561307 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1024563256 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS1024577519 TTN Health Risk Conflicting classifications of pathogenicity —
RS1024585946 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 12
RS1024600310 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1024654594 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS1024684465 HK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1024697806 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS10247099 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1024743168 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1024765171 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Ovarian serous cystadenocarcinoma
RS1024797402 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1024816121 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1024848122 CERKL Health Risk Pathogenic —
RS1024865708 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1024875120 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1024879456 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1024883914 PEX3 Health Risk Conflicting classifications of pathogenicity —
RS1024923221 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1A
RS1024976181 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS1025002934 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy
RS1025005830 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1025023837 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS10250779 PGAM2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type X, PGAM2-related disorder
RS1025103437 PRSS56 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 6, Isolated microphthalmia 6
RS1025136518 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1025136671 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1025144704 PDZD7 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 57
RS1025180934 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1025201214 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1025202963 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Spondyloepiphyseal dysplasia congenita
RS1025205332 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS1025252513 LONP1 Health Risk Conflicting classifications of pathogenicity —
RS1025271834 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1025275269 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1025299062 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1025310776 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1025329798 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1025333664 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1025337841 ARHGEF18 Health Risk Pathogenic —
RS1025339570 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1025361623 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1025372068 OBSL1 Health Risk Likely pathogenic —
RS1025376971 KCNA1 Health Risk Conflicting classifications of pathogenicity See cases, Episodic ataxia type 1
RS1025497590 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1025502215 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1025515771 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 4
RS1025526121 TCTN2 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1025532519 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1025545434 SPINK5 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Inborn genetic diseases
RS1025558859 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1025560272 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1025567379 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1025583289 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1025586071 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1025638460 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1025642403 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1025692267 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS1025711998 SEPSECS Health Risk Pathogenic Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS1025721902 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1025758355 RUSC2 Health Risk Pathogenic —
RS1025792545 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1025800148 RTN4IP1 Health Risk Likely pathogenic —
RS1025802726 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS1025829736 HERC1 Health Risk Conflicting classifications of pathogenicity Macrocephaly, dysmorphic facies
RS1025841516 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1025860114 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1025884753 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1025915101 MYO7A Health Risk Pathogenic —
RS1025917717 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS1025933713 PJVK Health Risk Likely pathogenic Deafness, Deafness
RS1025943151 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1025967277 ACP5 Health Risk Pathogenic Inborn genetic diseases, Spondyloenchondrodysplasia with immune dysregulation
RS1025977498 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS1026004197 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS1026022583 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS1026034826 GLE1 Health Risk Pathogenic/Likely pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS1026063439 TAOK1 Health Risk Pathogenic —
RS10261 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1026112888 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1026167666 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis, Dyskeratosis congenita
RS1026187830 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS1026195254 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS1026265047 TONSL Health Risk Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS1026278966 UNC80 Health Risk Likely pathogenic —
RS1026300967 NTRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
RS1026326311 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1026361359 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
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