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: rs121912651
rs121912651 		0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.820 1.000 24 1990 2015