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
RS786204895 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786204898 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786204899 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786204900 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204901 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786204902 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS786204903 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204904 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786204905 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204906 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204910 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204912 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786204914 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS786204916 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204921 LOC130004273;KLLN;PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786204922 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS786204927 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Loss of consciousness
RS786204928 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS786204929 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204930 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS786204931 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS786204933 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204934 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204937 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS786204941 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786204950 ACTN2 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic
RS786204951 ACTN2 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic
RS786204962 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS786204963 CDKL5 Health Risk Conflicting classifications of pathogenicity Atypical Rett syndrome, Inborn genetic diseases
RS786204964 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS786204965 CDKL5 Health Risk Likely pathogenic CDKL5 disorder, CDKL5 disorder
RS786204966 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204967 CDKL5 Health Risk Pathogenic Epileptic encephalopathy, Inborn genetic diseases
RS786204968 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204969 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, Developmental and epileptic encephalopathy
RS786204970 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204971 CDKL5 Health Risk Likely pathogenic CDKL5 disorder, CDKL5 disorder
RS786204972 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204973 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS786204974 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS786204975 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204976 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, Developmental and epileptic encephalopathy
RS786204977 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS786204978 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS786204979 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS786204980 CDKL5 Health Risk Likely pathogenic CDKL5 disorder, CDKL5 disorder
RS786204981 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204982 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS786204983 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, Developmental and epileptic encephalopathy
RS786204984 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, Developmental and epileptic encephalopathy
RS786204985 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS786204986 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204987 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS786204988 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204989 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, Developmental and epileptic encephalopathy
RS786204990 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204992 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS786204998 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS786204999 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS786205000 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS786205001 FOXG1 Health Risk Pathogenic FOXG1 disorder, Rett syndrome
RS786205003 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS786205004 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS786205005 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, Inborn genetic diseases
RS786205006 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS786205007 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS786205008 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS786205009 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS786205010 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS786205011 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS786205019 MECP2 Health Risk Pathogenic Attention deficit hyperactivity disorder, Rett syndrome
RS786205020 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS786205025 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205027 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205028 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205030 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205031 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205037 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS786205038 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205042 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS786205043 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205045 MECP2 Health Risk Pathogenic Rett syndrome, Inborn genetic diseases
RS786205047 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205048 MECP2 Health Risk Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS786205049 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, See cases
RS786205050 CACNA1H Health Risk Pathogenic Primary aldosteronism, Hyperaldosteronism
RS786205051 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS786205052 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS786205053 CPOX Health Risk Pathogenic Coproporphyria, CPOX-related disorder
RS786205054 CPOX Health Risk Pathogenic Coproporphyria, Coproporphyria
RS786205055 PLEKHM1 Health Risk Pathogenic Autosomal recessive osteopetrosis 6, Autosomal recessive osteopetrosis 6
RS786205056 ATP13A2 Health Risk Pathogenic/Likely pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS786205058 TMPRSS6 Health Risk Pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS786205059 TMPRSS6 Health Risk Pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS786205060 TMPRSS6 Health Risk Pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS786205061 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS786205062 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS786205063 HJV Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS786205065 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS786205067 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
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