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
RS1940810597 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1940812366 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940812948 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940813707 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940813766 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940813954 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940814079 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940823816 MARK2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1940830552 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940833669 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940834530 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940836063 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940836783 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940837338 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940838178 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940838881 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1940858106 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1940862694 LRP4 Health Risk Likely pathogenic Isolated hand syndactyly, Isolated hand syndactyly
RS1940906429 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940907270 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1940907616 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1940907688 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940908116 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940908396 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940908457 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940921909 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1940922749 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1940951167 SCN8A Health Risk Likely pathogenic —
RS1940955072 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1940955180 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940955656 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940955941 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940958854 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940959480 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1940959530 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940965143 LRP4 Health Risk Likely pathogenic Isolated hand syndactyly, Isolated hand syndactyly
RS1940989106 APOA5 Health Risk Pathogenic Familial type 5 hyperlipoproteinemia, Familial type 5 hyperlipoproteinemia
RS1940998166 LRP4 Health Risk Pathogenic/Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS1941012869 WNT1 Health Risk Pathogenic —
RS1941014492 WNT1 Health Risk Pathogenic/Likely pathogenic —
RS1941014739 APOA5 Health Risk Likely pathogenic Familial type 5 hyperlipoproteinemia, Familial type 5 hyperlipoproteinemia
RS1941093400 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1941140792 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1941145120 BEST1 Health Risk Pathogenic —
RS1941153466 BEST1 Health Risk Likely pathogenic —
RS1941153600 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1941163113 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1941184654 HGD Health Risk Pathogenic/Likely pathogenic HGD-related disorder, Alkaptonuria
RS1941187762 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1941197590 MARK2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1941214001 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1941247515 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1941252350 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1941316527 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1941393359 LRP4 Health Risk Likely pathogenic Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome
RS1941410085 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1941427629 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS1941465194 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1941479615 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1941483338 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1941483558 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1941485201 SPTBN2 Health Risk Pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS1941501393 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1941501578 BEST1 Health Risk Likely pathogenic —
RS1941501683 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941502709 LRP4 Health Risk Likely pathogenic Sclerosteosis 2, Congenital myasthenic syndrome 17
RS1941503926 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1941510179 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1941522995 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1941526116 MEN1 Health Risk Pathogenic —
RS1941527353 MEN1 Health Risk Pathogenic —
RS1941529928 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941531859 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941541962 APOA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1941543089 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1941543653 LRP4 Health Risk Likely pathogenic Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS1941550135 MEN1 Health Risk Likely pathogenic —
RS1941550964 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941551290 ADCY6 Health Risk Pathogenic Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8
RS1941554063 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1941556077 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941559064 KRT1 Health Risk Likely pathogenic Annular epidermolytic ichthyosis, Annular epidermolytic ichthyosis
RS1941598294 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941602345 BEST1 Health Risk Pathogenic —
RS1941603016 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941604532 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1941607846 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941613848 MEN1 Health Risk Pathogenic —
RS1941615895 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1941618522 BEST1 Health Risk Likely pathogenic —
RS1941619859 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941624571 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941625647 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941649906 SCN8A Health Risk Pathogenic —
RS1941650264 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1941650760 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1941653003 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1941661315 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1941661404 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941662983 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
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