Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853011
rs137853011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016

dbSNP: rs137853011
rs137853011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012

dbSNP: rs137853011
rs137853011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837

2008

dbSNP: rs137853011
rs137853011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. 18085035

2007

dbSNP: rs137853011
rs137853011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR CHEK2-positive breast cancers in young Polish women. 16914568

2006

dbSNP: rs137853011
rs137853011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. 16551709

2006

dbSNP: rs137853011
rs137853011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. 15649950

2005