Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles. 24415873

2014
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families. 21598002

2011
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. 20007843

2010
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 18772310

2008
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing. 17569143

2007
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141

2003
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 8566964

1996