TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Li-Fraumeni Syndrome ×
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: rs121913343
rs121913343 		0.611 0.520 17 7673803 missense variant G/A;C;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 0.800 1.000 23 1988 2014