rs121912651, TP53

N. diseases: 53
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.010 GeneticVariation BEFREE A homozygous p53 R248W gain-of-function mutation as the result of a CGG to TGG transition was identified in one of seven sebaceous gland carcinomas. 18717684 2008