CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Li-Fraumeni Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786202601
rs786202601
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.700 CausalMutation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358 2016