Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400

2014
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400

2014
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083

2011
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083

2011