Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity. 26544533

2016
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Lynch Syndrome in high risk Ashkenazi Jews in Israel. 23990280

2014
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24440087

2014
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762

2011
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. 20007843

2010
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993

2010
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731

2003