Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749873
rs63749873
G 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014

dbSNP: rs63749873
rs63749873
G 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012

dbSNP: rs63749873
rs63749873
G 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

dbSNP: rs63749873
rs63749873
G 0.700 CausalMutation CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694

2008

dbSNP: rs63749873
rs63749873
G 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007

dbSNP: rs63749873
rs63749873
G 0.700 CausalMutation CLINVAR Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. 16034045

2005

dbSNP: rs63749873
rs63749873
G 0.700 CausalMutation CLINVAR Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. 15483016

2004

dbSNP: rs63749873
rs63749873
G 0.700 CausalMutation CLINVAR Familial endometrial cancer in female carriers of MSH6 germline mutations. 10508506

1999