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
RS1554893804 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554893808 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554893810 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554893824 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Glioma susceptibility 2
RS1554893831 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554893835 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554893837 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554894445 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1554894448 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1554894469 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1554894481 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1554894743 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, KCNQ1-related disorder
RS1554894837 BLNK Health Risk Pathogenic Agammaglobulinemia 4, autosomal recessive
RS1554895166 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1554895172 EHMT1 Health Risk Pathogenic —
RS1554896104 EHMT1 Health Risk Pathogenic —
RS1554896308 RECQL4 Health Risk Likely pathogenic Rothmund-Thomson syndrome, Rothmund-Thomson syndrome
RS1554896575 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554896691 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1554896943 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554897110 EHMT1 Health Risk Pathogenic —
RS1554897134 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1554897240 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554897249 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554897262 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554897267 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554897271 PTEN Health Risk Likely pathogenic Hereditary cancer, PTEN-related disorder
RS1554897280 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554897282 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Uterine carcinosarcoma
RS1554897763 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554897849 PTEN Health Risk Conflicting classifications of pathogenicity Cowden syndrome 1, Hereditary cancer-predisposing syndrome
RS1554897852 EHMT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554897854 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS1554897856 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554897858 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554897861 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554897864 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554897866 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554897879 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Breast neoplasm
RS1554897880 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554897889 PTEN Health Risk Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS1554898053 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554898056 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554898062 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554898067 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Neoplasm
RS1554898071 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554898073 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554898074 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554898083 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554898084 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554898085 PTEN Health Risk Pathogenic Cowden syndrome 1, Hereditary cancer-predisposing syndrome
RS1554898088 PTEN Health Risk Likely pathogenic Seizure, Hereditary cancer-predisposing syndrome
RS1554898090 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554898091 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554898092 PTEN Health Risk Pathogenic —
RS1554898097 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS1554898107 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554898113 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554898123 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554898126 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Prostate cancer
RS1554898127 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554898129 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554898132 PTEN Health Risk Pathogenic —
RS1554898138 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Glioma susceptibility 2
RS1554898139 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554898141 PTEN Health Risk Pathogenic —
RS1554898150 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554898152 PTEN Health Risk Pathogenic —
RS1554898161 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554898163 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554898188 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554898193 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome
RS1554898197 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554898206 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554898210 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554898217 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554898225 PTEN Health Risk Likely pathogenic —
RS1554898231 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554898235 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS1554898237 PTEN Health Risk Pathogenic Cowden syndrome 1, Hereditary cancer-predisposing syndrome
RS1554898238 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554898242 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554898244 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS1554898245 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554898257 RECQL4 Health Risk Likely pathogenic Rothmund-Thomson syndrome, Rothmund-Thomson syndrome
RS1554898541 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS1554898759 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1554898987 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1554899274 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1554899451 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1554899720 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1554899728 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1554899989 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1554900496 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome
RS1554900515 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554900530 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554900534 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554900566 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554900587 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554900593 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
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