Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783053
rs587783053
G 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: rs587783055
rs587783055
CA 0.700 CausalMutation 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: rs63750937
rs63750937
A 0.700 GeneticVariation CLINVAR Cancer risk in Lynch Syndrome. 23604856

2013

dbSNP: rs63750937
rs63750937
A 0.700 GeneticVariation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011

dbSNP: rs63750937
rs63750937
A 0.700 GeneticVariation CLINVAR Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. 19659756

2009

dbSNP: rs587783055
rs587783055
CA 0.700 CausalMutation CLINVAR Functional analysis of HNPCC-related missense mutations in MSH2. 18822302

2008

dbSNP: rs63750937
rs63750937
A 0.700 GeneticVariation CLINVAR Concise handbook of familial cancer susceptibility syndromes - second edition. 18559331

2008

dbSNP: rs587783055
rs587783055
CA 0.700 CausalMutation CLINVAR Structure of the human MutSalpha DNA lesion recognition complex. 17531815

2007

dbSNP: rs587783053
rs587783053
G 0.700 GeneticVariation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006

dbSNP: rs63750937
rs63750937
A 0.700 GeneticVariation CLINVAR Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. 15943554

2005

dbSNP: rs587783055
rs587783055
CA 0.700 CausalMutation CLINVAR Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. 9774676

1998