SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS864321676 TUBB Health Risk Pathogenic Multiple benign circumferential skin creases on limbs 1, Multiple benign circumferential skin creases on limbs 1
RS864321677 TUBB Health Risk Pathogenic Multiple benign circumferential skin creases on limbs 1, Multiple benign circumferential skin creases on limbs 1
RS864321678 GNMT Health Risk Pathogenic Glycine N-methyltransferase deficiency, Glycine N-methyltransferase deficiency
RS864321679 PBRM1 Health Risk Pathogenic Clear cell carcinoma of kidney, Clear cell carcinoma of kidney
RS864321680 ERF Health Risk Pathogenic Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS864321681 ERF Health Risk Pathogenic Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS864321682 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS864321684 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS864321685 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS864321686 COQ7 Health Risk Pathogenic Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8
RS864321687 NUP107 Health Risk Pathogenic Nephrotic syndrome, type 11
RS864321688 NUP107 Health Risk Pathogenic Nephrotic syndrome, type 11
RS864321689 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, Inborn genetic diseases
RS864321690 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS864321691 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS864321692 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, Inborn genetic diseases
RS864321693 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS864321694 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS864321695 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS864321697 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS864321698 GATA4 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321700 GATA4 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321701 GATA4 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321702 GATA4 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321703 GATA4 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321704 GATA4 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321705 GATA4 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321706 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS864321707 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS864321708 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS864321709 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS864321710 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS864321711 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS864321712 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS864321714 TUBB3 Health Risk Likely pathogenic Fibrosis of extraocular muscles, congenital
RS864321715 TUBB3 Health Risk Pathogenic/Likely pathogenic Fibrosis of extraocular muscles, congenital
RS864321716 TUBB3 Health Risk Pathogenic/Likely pathogenic Fibrosis of extraocular muscles, congenital
RS864321717 TUBB3 Health Risk Likely pathogenic Fibrosis of extraocular muscles, congenital
RS864621963 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS864621964 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS864621965 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS864621966 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS864621967 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS864621968 TP63 Health Risk Pathogenic Ectrodactyly, ectodermal dysplasia
RS864621969 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS864621970 RUNX2 Health Risk Pathogenic/Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS864621971 SALL1 Health Risk Conflicting classifications of pathogenicity Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS864621972 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS864621973 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS864621974 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS864621975 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS864621977 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Inborn genetic diseases
RS864621978 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS864621980 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS864621984 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS864621986 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS864621991 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS864621992 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS864621993 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS864621994 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS864621998 SPTLC2 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS864622006 VPS33B Health Risk association Arthrogryposis, renal dysfunction
RS864622007 AR Health Risk Likely pathogenic Prostate cancer, Prostate cancer
RS864622011 DNAJC6 Health Risk Pathogenic Prostate cancer, Juvenile onset Parkinson disease 19A
RS864622012 PPP2CA Health Risk Likely pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS864622041 MSH6 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS864622043 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS864622046 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS864622051 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS864622056 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS864622057 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS864622058 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS864622059 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS864622060 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS864622061 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS864622063 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS864622064 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622065 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622073 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622079 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622082 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622083 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS864622086 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS864622088 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS864622090 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS864622093 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622094 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS864622096 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622097 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622099 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS864622100 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS864622102 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS864622104 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622105 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 5
RS864622106 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS864622107 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS864622109 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS864622111 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS864622120 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS864622121 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
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