CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555927374
rs1555927374
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1261473
Disease:
Sarcoma
T 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354 2004