Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751113
rs63751113
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2. 26333163

2015
dbSNP: rs63751113
rs63751113
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs63751113
rs63751113
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012
dbSNP: rs63751113
rs63751113
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. 18790734

2008
dbSNP: rs63751113
rs63751113
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation. 11807791

2002