MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781462
rs587781462
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE To the best of our knowledge, this is the first description of MSH6 T767I pathogenic variant that could be associated with a hereditary endometrial cancer. 31100584 2019
dbSNP: rs63750111
rs63750111
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped for the predominant mutations in Jewish individuals in BRCA1 (185delAG, 5382InsC, Tyr978X) BRCA2 (6174delT), MSH2 (A636P, 324delCA) and MSH6 (c.3984_3987dup). 20850175 2010