Gene: MSH2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167845
rs1114167845
MSH2
T 0.700 CausalMutation CLINVAR Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. 20937110

2010
dbSNP: rs1114167845
rs1114167845
MSH2
T 0.700 CausalMutation CLINVAR Simplified identification of Lynch syndrome: a prospective, multicenter study. 22480969

2012
dbSNP: rs1114167877
rs1114167877
MSH2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1114167883
rs1114167883
MSH2
T 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: rs1114167883
rs1114167883
MSH2
T 0.700 CausalMutation CLINVAR Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay. 19685281

2009
dbSNP: rs1114167883
rs1114167883
MSH2
T 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: rs1230083633
rs1230083633
MSH2
T 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
dbSNP: rs1230083633
rs1230083633
MSH2
T 0.700 CausalMutation CLINVAR Structure of the human MutSalpha DNA lesion recognition complex. 17531815

2007
dbSNP: rs1230083633
rs1230083633
MSH2
T 0.700 CausalMutation CLINVAR Functional analysis of HNPCC-related missense mutations in MSH2. 18822302

2008
dbSNP: rs12476364
rs12476364
MSH2
A 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: rs12476364
rs12476364
MSH2
A 0.700 CausalMutation CLINVAR Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations. 11151427

2000
dbSNP: rs12476364
rs12476364
MSH2
T 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: rs12476364
rs12476364
MSH2
A 0.700 CausalMutation CLINVAR Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses. 26866578

2016
dbSNP: rs12476364
rs12476364
MSH2
T 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: rs12476364
rs12476364
MSH2
T 0.700 CausalMutation CLINVAR Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses. 26866578

2016
dbSNP: rs12476364
rs12476364
MSH2
T 0.700 CausalMutation CLINVAR Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis. 20233461

2004
dbSNP: rs12476364
rs12476364
MSH2
C 0.700 GeneticVariation 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: rs12476364
rs12476364
MSH2
T 0.700 CausalMutation CLINVAR Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations. 11151427

2000
dbSNP: rs12476364
rs12476364
MSH2
C 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: rs12476364
rs12476364
MSH2
A 0.700 CausalMutation CLINVAR Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis. 20233461

2004
dbSNP: rs1553348794
rs1553348794
MSH2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553348842
rs1553348842
MSH2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1553348882
rs1553348882
MSH2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553348896
rs1553348896
MSH2
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1553348898
rs1553348898
MSH2
ATC 0.700 CausalMutation CLINVAR