Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 GeneticVariation CLINVAR Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. 25318681

2015
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 GeneticVariation CLINVAR Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. 22691310

2012
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 GeneticVariation CLINVAR Detection of genetic alterations in hereditary colorectal cancer screening. 19931546

2010
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 GeneticVariation CLINVAR Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors. 18550572

2008
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 GeneticVariation CLINVAR Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. 16283884

2005
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 GeneticVariation CLINVAR Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? 15837969

2005
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 GeneticVariation CLINVAR No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer. 15805151

2005
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 GeneticVariation CLINVAR p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. 11479205

2001
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR