CHEK2, checkpoint kinase 2, 11200

N. diseases: 47; N. variants: 223
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs555607708
rs555607708
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2
A 0.700 CausalMutation CLINVAR