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
RS2131871071 PLEC Health Risk Pathogenic —
RS2131873923 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131873933 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131874080 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia type I
RS2131875524 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131875686 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2131875783 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131875808 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131875838 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2131875912 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131876244 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2131877041 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131877148 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131877883 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 1
RS2131878298 ENG Health Risk Pathogenic See cases, See cases
RS2131878320 TLN1 Health Risk Likely pathogenic Capillary leak syndrome, Capillary leak syndrome
RS2131879220 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131879343 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2131879350 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131879366 ENG Health Risk Pathogenic —
RS2131879372 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131879687 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2131880195 POMT1 Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2131880971 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131882609 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS2131883421 TSC1 Health Risk Likely pathogenic Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II
RS2131885751 ENG Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2131885756 ENG Health Risk Pathogenic —
RS2131885848 ENG Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2131885883 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131885976 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131886094 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131886482 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2131886797 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131886908 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2131886942 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131886961 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2131887087 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131887114 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131887155 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131887701 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131887716 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131887737 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131887828 ENG Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2131887851 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131888057 ENG Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2131889044 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131889054 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131889169 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131889284 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131889336 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131889364 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131889490 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2131889572 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2131890499 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2131890509 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2131890631 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131890702 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131890746 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131894927 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131895111 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2131895129 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131895772 BMP1 Health Risk Likely pathogenic Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS2131918332 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2131918396 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS2131918640 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2131922149 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS2131922603 POMT1 Health Risk Likely pathogenic —
RS2131923211 POLR3A Health Risk Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome
RS2131925210 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2131925813 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2131926729 POLR3A Health Risk Likely pathogenic —
RS2131926804 POLR3A Health Risk Pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome
RS2131927984 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS2131930706 POLR3A Health Risk Pathogenic —
RS2131933515 VCL Health Risk Likely pathogenic —
RS2131933650 ANKS6 Health Risk Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS2131936480 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS2131937028 POLR3A Health Risk Likely pathogenic —
RS2131938862 SPTAN1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2131938879 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2131940356 ZFHX4 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2131943046 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131943863 POLR3A Health Risk Pathogenic —
RS2131943928 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS2131945469 GBA2 Health Risk Pathogenic Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46
RS2131945572 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131945763 POLR3A Health Risk Pathogenic —
RS2131946983 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131947494 GBA2 Health Risk Pathogenic Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46
RS2131947911 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS2131949494 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2131950092 POLR3A Health Risk Pathogenic —
RS2131950121 POLR3A Health Risk Likely pathogenic —
RS2131951562 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2131952314 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131953509 SPTAN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS2131953982 SPTAN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS2131956082 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS2131956457 POLR3A Health Risk Pathogenic —
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