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
RS267606887 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS267606888 MT-ND2 Health Risk Likely pathogenic Mitochondrial complex I deficiency, Mitochondrial disease
RS267606890 MT-ND3 Health Risk Pathogenic Mitochondrial complex I deficiency, mitochondrial type 1
RS267606891 MT-ND3 Health Risk Pathogenic Leber optic atrophy and dystonia, Mitochondrial complex I deficiency
RS267606893 MT-ND5 Health Risk Likely pathogenic Leigh syndrome due to mitochondrial complex I deficiency, Leigh syndrome
RS267606897 MT-ND5 Health Risk Pathogenic Leigh syndrome due to mitochondrial complex I deficiency, MELAS syndrome
RS267606898 MT-ND5 Health Risk Likely pathogenic MELAS syndrome, MERRF syndrome
RS267606900 MTPAP Health Risk Pathogenic Spastic ataxia 4, Spastic ataxia 4
RS267606902 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS267606903 MYH6 Health Risk Pathogenic Atrial septal defect 3, Atrial septal defect 3
RS267606904 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy
RS267606906 MYH6 Health Risk Pathogenic Dilated cardiomyopathy 1EE, Dilated cardiomyopathy 1EE
RS267606908 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy
RS267606909 MYH7 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 5, Cardiomyopathy
RS267606911 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS267606913 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS267606914 NKX2-6 Health Risk Likely pathogenic Persistent truncus arteriosus, Conotruncal heart malformations
RS267606915 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS267606916 NPHP3 Health Risk Pathogenic Nephronophthisis 3, Nephronophthisis
RS267606917 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS267606918 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS267606919 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Nephrotic syndrome
RS267606920 NRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome 6, Noonan syndrome 1
RS267606921 NRAS Health Risk Pathogenic Noonan syndrome 6, Noonan syndrome 1
RS267606922 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS267606923 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS267606924 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS267606925 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS267606926 OCLN Health Risk Pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS267606927 OPN1MW Health Risk Pathogenic Cone dystrophy 5, X-linked
RS267606928 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12
RS267606929 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12
RS267606931 PAX3 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome
RS267606932 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
RS267606933 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS267606934 PDE6C Health Risk Pathogenic Achromatopsia 5, Achromatopsia 5
RS267606935 PDE6C Health Risk Pathogenic Achromatopsia 5, Achromatopsia 5
RS267606936 PDE6C Health Risk Pathogenic Achromatopsia 5, Achromatopsia 5
RS267606937 PDE6C Health Risk Pathogenic Achromatopsia 5, Achromatopsia 5
RS267606938 PDP1 Health Risk Pathogenic Pyruvate dehydrogenase phosphatase deficiency, Pyruvate dehydrogenase phosphatase deficiency
RS267606939 PDYN Health Risk Pathogenic Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS267606941 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS267606943 PEPD Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency
RS267606944 PEPD Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency
RS267606945 PHEX Health Risk Pathogenic —
RS267606946 PHEX Health Risk Likely pathogenic —
RS267606947 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Neu-Laxova syndrome 1
RS267606948 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS267606949 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS267606950 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, PI Q0(GRANITE FALLS)
RS267606951 PIGV Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
RS267606952 PIGV Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
RS267606953 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS267606954 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS267606955 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS267606956 PNKP Health Risk Pathogenic Microcephaly, seizures
RS267606957 PNKP Health Risk Pathogenic Microcephaly, seizures
RS267606958 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS267606959 POLG Health Risk Pathogenic Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy
RS267606960 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS267606961 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS267606962 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS267606963 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS267606964 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS267606965 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS267606966 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS267606969 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS267606970 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS267606971 POMT2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS267606973 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Anophthalmia-microphthalmia syndrome
RS267606974 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS267606976 PRKAG2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 6, Cardiomyopathy
RS267606977 PRKAG2 Health Risk Pathogenic Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart
RS267606978 PRKAG2 Health Risk Pathogenic Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy
RS267606979 PRKAG2 Health Risk Likely pathogenic Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart
RS267606981 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS267606982 PRSS1 Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS267606983 PSEN1 Health Risk Likely pathogenic Alzheimer disease, familial
RS267606984 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS267606985 PTHLH Health Risk Pathogenic Brachydactyly type E2, Brachydactyly type E2
RS267606986 PTHLH Health Risk Pathogenic Brachydactyly type E2, Brachydactyly type E2
RS267606987 PTHLH Health Risk Pathogenic Brachydactyly type E2, Brachydactyly type E2
RS267606988 PTHLH Health Risk Pathogenic Brachydactyly type E2, Brachydactyly type E2
RS267606989 PTPN11 Health Risk Pathogenic Metachondromatosis, RASopathy
RS267606990 PTPN11 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 1, Noonan syndrome
RS267606991 NECTIN4 Health Risk Pathogenic Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
RS267606992 NECTIN4 Health Risk Pathogenic Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
RS267606993 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS267606995 RAB39B Health Risk Pathogenic Intellectual disability, X-linked 72
RS267606996 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS267606997 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS267606998 RAD51C Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS267606999 RAD51C Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS267607000 RBM10 Health Risk Pathogenic TARP syndrome, TARP syndrome
RS267607001 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS267607002 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy
RS267607003 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy
RS267607004 RBM20 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy
RS267607005 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS267607006 RDH5 Health Risk Pathogenic Fundus albipunctatus, autosomal recessive
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