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
RS137853329 IKBKG Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS137853330 IKBKG Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS137853331 IKBKG Health Risk Likely pathogenic Immunodeficiency 33, Immunodeficiency 33
RS137853332 IKBKG Health Risk Pathogenic Immunodeficiency 33, Immunodeficiency 33
RS137853333 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS137853334 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS137853335 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS137853336 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
RS137853338 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS137853339 GCNT2 Health Risk Pathogenic ADULT i BLOOD GROUP PHENOTYPE, ADULT i BLOOD GROUP PHENOTYPE
RS137853340 GCNT2 Health Risk Pathogenic ADULT i BLOOD GROUP PHENOTYPE, ADULT i BLOOD GROUP PHENOTYPE
RS137853342 SCNN1G Health Risk Pathogenic Liddle syndrome 2, Liddle syndrome 2
RS137853579 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS137853580 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS137853583 GPI Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS137853584 GPI Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases
RS137853585 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS137853586 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS137853587 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS137853588 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS137853589 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS137853590 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS137853591 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS137853592 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS137853593 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS137853594 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS137853595 ASAH1 Health Risk Pathogenic/Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS137853596 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS137853597 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS137853598 C1GALT1C1 Health Risk Pathogenic Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome
RS137853599 C1GALT1C1 Health Risk Pathogenic Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome
RS137853825 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS137853829 OCRL Health Risk Likely pathogenic Lowe syndrome, Dent disease type 2
RS137853831 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS137853846 OCRL Health Risk Pathogenic Dent disease type 2, Lowe syndrome
RS137853852 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS137853858 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS137853859 GALE Health Risk Pathogenic/Likely pathogenic UDPglucose-4-epimerase deficiency, See cases
RS137853860 GALE Health Risk Pathogenic/Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS137853861 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS137853863 NSDHL Health Risk Likely pathogenic Child syndrome, Child syndrome
RS137853865 PPIB Health Risk Pathogenic Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
RS137853866 PPIB Health Risk Likely pathogenic Osteogenesis imperfecta type 9, Osteogenesis imperfecta
RS137853867 PPIB Health Risk Pathogenic —
RS137853869 PPIB Health Risk Pathogenic Osteogenesis imperfecta type 9, Osteogenesis imperfecta
RS137853882 FKBP10 Health Risk Pathogenic Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12
RS137853883 FKBP10 Health Risk Pathogenic Osteogenesis imperfecta type 12, Bruck syndrome 1
RS137853884 FKBP10 Health Risk Pathogenic Bruck syndrome 1, FKBP10-related disorder
RS137853890 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS137853892 SERPINH1 Health Risk Pathogenic Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
RS137853893 SP7 Health Risk Pathogenic Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12
RS137853898 ABCA4 Health Risk Pathogenic —
RS137853899 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS137853905 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS137853907 PROM1 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 12
RS137853909 MKKS Health Risk Conflicting classifications of pathogenicity McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
RS137853917 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS137853921 BBS5 Health Risk Conflicting classifications of pathogenicity Cone dystrophy, Bardet-Biedl syndrome
RS137853922 TTC8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Bardet-Biedl syndrome
RS137853923 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS137853924 CRYGC Health Risk Pathogenic Cataract 2, multiple types
RS137853928 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS137853929 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome
RS137853932 CRLF1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 12, Cold-induced sweating syndrome 1
RS137853933 CRLF1 Health Risk Likely pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS137853934 CLCF1 Health Risk Pathogenic Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2
RS137853935 CLCF1 Health Risk Pathogenic Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2
RS137853936 CRTAP Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853939 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta
RS137853940 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853941 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853943 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta
RS137853944 CRTAP Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853946 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853947 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853948 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS137853950 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS137853952 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS137853953 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS137853961 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS137853965 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS137853966 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS137853967 ATP13A2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS137853969 KCNQ4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS137853970 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS137853971 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS137853972 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS137853973 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS137853977 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137853981 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS137853982 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137853983 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137853986 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137853987 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137853988 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS137853990 TSC2 Health Risk Likely pathogenic Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II
RS137853993 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137853995 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137853997 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS137853998 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
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