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
RS141417436 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Intellectual disability
RS141418421 COL4A1 Health Risk Conflicting classifications of pathogenicity COL4A1-related disorder, COL4A1-related disorder
RS1414190221 IL10RA Health Risk Likely pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS1414195684 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1414200193 LPIN2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Majeed syndrome
RS141420090 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS1414204760 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Cardiovascular phenotype
RS141420691 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS141420954 TECTA Health Risk Conflicting classifications of pathogenicity —
RS141422393 ADCY10 Health Risk Pathogenic —
RS1414226750 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy
RS141423403 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS141423405 KCNE2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS1414234636 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS141423593 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Stickler syndrome type 1
RS141424313 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1414248101 C9 Health Risk Pathogenic —
RS141425171 AR Health Risk Pathogenic/Likely pathogenic Male infertility, Androgen resistance syndrome
RS141425550 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS1414255979 TPP1 Health Risk Pathogenic —
RS1414256228 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS141425680 PKD1L1 Health Risk Conflicting classifications of pathogenicity PKD1L1-related disorder, PKD1L1-related disorder
RS141425824 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Thyroid cancer
RS141425941 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1414259537 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1414264431 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ovarian serous cystadenocarcinoma
RS1414280804 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS141428538 KIF20A Health Risk Conflicting classifications of pathogenicity —
RS141429029 ATR Health Risk Pathogenic —
RS141429393 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS141429845 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS141429900 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS141430143 SLC25A22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC25A22-related disorder
RS1414304435 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS141430674 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS141430703 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS141430704 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS1414312676 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS141431913 CYP2U1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 56, Spastic paraplegia
RS141432255 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS141432631 ARID1A Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Inborn genetic diseases
RS141432759 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS141432979 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS1414333836 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS141433824 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS141434073 F5 Health Risk Conflicting classifications of pathogenicity Congenital factor V deficiency, Inborn genetic diseases
RS1414345811 CABP4 Health Risk Likely pathogenic —
RS1414349657 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS141435008 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS141435327 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS1414353514 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS1414358425 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS141436407 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS141436635 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS1414371236 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1414372155 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS141437721 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS141438322 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS1414385892 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1414387984 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS141439475 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS1414396886 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS141440621 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1414406816 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS1414406881 OCA2 Health Risk Likely pathogenic —
RS141440715 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS141440861 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS141440865 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS141441003 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, DNA ligase IV deficiency
RS141441058 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS1414411811 COL4A3 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS1414412355 TONSL Health Risk Likely pathogenic —
RS141441408 DNAJB11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141442681 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1414433033 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinal dystrophy
RS141443492 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS141443652 TMPO Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1T
RS141443872 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1414463878 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS141446475 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141446597 COL27A1 Health Risk Conflicting classifications of pathogenicity —
RS141446687 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS141446737 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS141447598 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS141448616 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS141448778 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS141449031 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1414490641 MANEAL Health Risk Likely pathogenic MANEAL-associated disorder, MANEAL-associated disorder
RS141449225 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial hypertrophic 27
RS141449286 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS141449320 ABCC6 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS1414503929 VWF Health Risk Pathogenic/Likely pathogenic VWF-related disorder, VWF-related disorder
RS141450429 C2 Health Risk Conflicting classifications of pathogenicity —
RS141450561 ILDR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
RS141451302 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS141452179 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS141452198 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Steel syndrome
RS141452561 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1414530313 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1414534588 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
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