Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751004
rs63751004
MSH2
C 0.700 GeneticVariation CLINVAR Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center. 23612316

2013
dbSNP: rs63751004
rs63751004
MSH2
C 0.700 GeneticVariation CLINVAR Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. 23760103

2013
dbSNP: rs63751004
rs63751004
MSH2
C 0.700 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
dbSNP: rs63751004
rs63751004
MSH2
C 0.700 GeneticVariation CLINVAR In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. 16995940

2006