Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908698
rs121908698
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The germline mutations of the CHEK2 gene are associated with an increased risk of polycythaemia vera. 26084796

2016
dbSNP: rs121908698
rs121908698
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs121908698
rs121908698
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The risk of gastric cancer in carriers of CHEK2 mutations. 23296741

2013
dbSNP: rs121908698
rs121908698
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083

2011
dbSNP: rs121908698
rs121908698
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. 19030985

2009
dbSNP: rs121908698
rs121908698
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR CHEK2 is a multiorgan cancer susceptibility gene. 15492928

2004
dbSNP: rs121908698
rs121908698
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutations in CHEK2 associated with prostate cancer risk. 12533788

2003