Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750521
rs63750521
MSH2
G 0.700 CausalMutation CLINVAR Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. 16216036

2005
dbSNP: rs63750521
rs63750521
MSH2
G 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733

2005
dbSNP: rs63750521
rs63750521
MSH2
G 0.700 CausalMutation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004
dbSNP: rs63750521
rs63750521
MSH2
G 0.700 CausalMutation CLINVAR Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer. 11304573

2001
dbSNP: rs63750521
rs63750521
MSH2
G 0.700 CausalMutation CLINVAR Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. 10564582

2000
dbSNP: rs63750521
rs63750521
MSH2
G 0.700 CausalMutation CLINVAR Microsatellite instability and expression of MLH1 and MSH2 in normal and malignant endometrial and ovarian epithelium in hereditary nonpolyposis colorectal cancer family members. 10432927

1999
dbSNP: rs63750521
rs63750521
MSH2
G 0.700 CausalMutation CLINVAR Low frequency of hMSH2 mutations in Swedish HNPCC families. 9036882

1997
dbSNP: rs63750521
rs63750521
MSH2
G 0.700 CausalMutation CLINVAR hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. 8062247

1994