Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 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: rs63751127
rs63751127
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer. 20924129

2010
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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