TP53, tumor protein p53, 7157

N. diseases: 84; N. variants: 390
Disease: Li-Fraumeni Syndrome ×
Source: CLINVAR ×
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: rs876660754
rs876660754 		0.701 0.360 17 7675095 missense variant C/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.800 1.000 9 1990 2018