CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Breast Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853010
rs137853010
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE TP53 p.R181C predisposed specifically to breast cancer with incomplete penetrance, and not to other Li-Fraumeni cancers. 28486781 2017