Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750617
rs63750617
T 0.700 CausalMutation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107

2017

dbSNP: rs63750617
rs63750617
T 0.700 CausalMutation CLINVAR Human MSH6 deficiency is associated with impaired antibody maturation. 22250089

2012

dbSNP: rs63750617
rs63750617
T 0.700 CausalMutation CLINVAR Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin. 21039432

2011

dbSNP: rs63750617
rs63750617
T 0.700 CausalMutation CLINVAR Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. 21056691

2011

dbSNP: rs63750617
rs63750617
T 0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009

dbSNP: rs63750617
rs63750617
T 0.700 CausalMutation CLINVAR Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. 18409202

2008

dbSNP: rs63750617
rs63750617
T 0.700 CausalMutation CLINVAR Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. 16418736

2006

dbSNP: rs63750617
rs63750617
T 0.700 CausalMutation CLINVAR Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait. 16525781

2006

dbSNP: rs63750617
rs63750617
T 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