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
RS1437397442 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS143739859 ARL6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Bardet-Biedl syndrome 3
RS1437402680 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS143740376 CFAP298 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
RS143740796 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 2
RS1437430439 FKRP Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS1437432300 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1437433749 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS1437442253 POLR3B Health Risk Pathogenic/Likely pathogenic POLR-related leukodystrophy, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS143744796 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS1437449624 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1437454428 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1437455190 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS143745645 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS143745703 GUCY2D Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Retinal dystrophy
RS143746083 TECRL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TECRL-related disorder
RS143746450 HIBCH Health Risk Pathogenic/Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS143746604 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS143747297 MTO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial oxidative phosphorylation disorder
RS143747620 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS1437477079 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1437481110 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS143748636 CFAP418 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 16
RS143749139 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS143749154 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS143749728 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS143749884 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS143750180 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS1437503069 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1437508852 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1437527088 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS143752722 FLNB Health Risk Conflicting classifications of pathogenicity —
RS143753116 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143754187 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS143754785 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Hereditary sensory and autonomic neuropathy type 1
RS143755280 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS143755415 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1437555847 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS143755898 MAN2C1 Health Risk Likely pathogenic Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
RS1437563380 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1437567292 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1437570539 PRKAG2 Health Risk Conflicting classifications of pathogenicity PRKAG2-related disorder, PRKAG2-related disorder
RS143757415 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS143757943 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143758001 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS143758913 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS143758998 P4HB Health Risk Conflicting classifications of pathogenicity —
RS143759215 PLOD3 Health Risk Conflicting classifications of pathogenicity Bone fragility with contractures, arterial rupture
RS143759440 ROR2 Health Risk Conflicting classifications of pathogenicity —
RS143759519 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS143759529 GTPBP3 Health Risk Conflicting classifications of pathogenicity —
RS1437597491 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS143761565 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1437616632 CDH3 Health Risk Likely pathogenic CDH3-related disorder, Retinal dystrophy
RS143761967 RGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS143762717 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS143763229 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS1437633065 COL4A5 Health Risk Likely pathogenic —
RS143763650 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS143763998 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN3A-related disorder
RS1437640012 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1437640913 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1437641531 CYP2U1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS143764421 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1437645668 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1437647695 ITGB4 Health Risk Pathogenic —
RS143764931 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Myofibrillar myopathy 4
RS143765189 SLC25A19 Health Risk Conflicting classifications of pathogenicity Amish lethal microcephaly, Amish lethal microcephaly
RS143765389 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1437661282 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS143766249 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS143766657 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity —
RS143767581 LIG4 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency
RS143767851 KCNE2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 6, Atrial fibrillation
RS143767864 DCHS1 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 1, Inborn genetic diseases
RS1437680207 CLCN7 Health Risk Pathogenic —
RS143768042 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, AUH-related disorder
RS143769046 IRF3 Health Risk Conflicting classifications of pathogenicity Encephalopathy, acute
RS1437693931 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1437697210 KMT2B Health Risk Pathogenic —
RS1437697372 FANCA Health Risk Likely pathogenic FANCA-related disorder, FANCA-related disorder
RS1437698813 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS143770207 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS143770939 TBC1D31 Health Risk Likely pathogenic Inherited genitourinary tract anomalies, Inherited genitourinary tract anomalies
RS1437712014 LAMC3 Health Risk Pathogenic —
RS1437719035 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS143772894 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS143773090 CIB1 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to
RS143773384 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS1437737028 CYB561 Health Risk Pathogenic Orthostatic hypotension 2, Orthostatic hypotension 2
RS143773937 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, Inborn genetic diseases
RS143773975 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS1437740725 COL7A1 Health Risk Pathogenic —
RS1437746739 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS1437750762 PHF8 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS143775193 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS143775476 GZF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cholangiocarcinoma
RS143776463 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS143777403 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS143778018 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
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