Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
TP53
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 GeneticVariation BEFREE The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome. 21192060

2011