TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912664
rs121912664
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.900 0.977 44 1990 2020