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
RS1555525429 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Ovarian neoplasm
RS1555525465 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525470 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525476 ANKRD11 Health Risk Pathogenic —
RS1555525486 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525498 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555525517 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1555525518 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555525537 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525539 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525562 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS1555525585 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Ovarian neoplasm
RS1555525586 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555525603 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1555525654 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS1555525685 ANKRD11 Health Risk Pathogenic —
RS1555525703 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Familial cancer of breast
RS1555525710 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525743 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525759 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555525792 ANKRD11 Health Risk Pathogenic —
RS1555525804 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525857 TP53 Health Risk Likely pathogenic Familial prostate cancer, Familial cancer of breast
RS1555525895 TMEM107 Health Risk Pathogenic Meckel syndrome 13, Meckel syndrome 13
RS1555525902 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525917 ANKRD11 Health Risk Pathogenic —
RS1555525931 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1555525941 MYH3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555525957 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555525970 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555525977 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1555526001 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555526004 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526064 TP53 Health Risk Likely pathogenic —
RS1555526078 TP53 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1555526082 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526086 ANKRD11 Health Risk Pathogenic —
RS1555526097 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1555526101 TP53 Health Risk Pathogenic Ovarian neoplasm, Familial cancer of breast
RS1555526131 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555526137 TP53 Health Risk Likely pathogenic —
RS1555526140 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Neoplasm
RS1555526166 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Neoplasm
RS1555526172 TMEM107 Health Risk Pathogenic Orofaciodigital syndrome 16, Leukoencephalopathy with calcifications and cysts
RS1555526241 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526248 PAFAH1B1 Health Risk Likely pathogenic —
RS1555526250 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast neoplasm
RS1555526268 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526278 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526286 TP53 Health Risk Likely pathogenic —
RS1555526298 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1555526309 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1555526324 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526327 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526335 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555526462 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555526466 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian neoplasm
RS1555526469 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Li-Fraumeni syndrome
RS1555526470 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555526478 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1555526495 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555526524 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555526532 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526565 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555526581 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555526593 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555526610 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526631 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526635 TP53 Health Risk Pathogenic —
RS1555526636 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1555526664 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526711 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS1555526718 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1555526721 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1555526733 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1555526742 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526748 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555526750 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555526777 TP53 Health Risk Likely pathogenic —
RS1555526784 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555526789 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526793 TP53 Health Risk Likely pathogenic —
RS1555526795 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555526796 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555526819 MYH3 Health Risk Pathogenic —
RS1555526832 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526915 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1555526916 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555526931 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1555526933 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526938 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1555526988 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555526997 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555527001 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1555527002 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS1555527015 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555527149 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1555527166 MYH3 Health Risk Likely pathogenic Contractures, pterygia
RS1555527172 MYH3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555527284 VAC14 Health Risk Likely pathogenic —
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