Gene: MSH2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
T 0.700 CausalMutation CLINVAR Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations. 11151427

2000
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

dbSNP: rs1553348904
rs1553348904
MSH2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553350167
rs1553350167
MSH2
G 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs1553350466
rs1553350466
MSH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553350680
rs1553350680
MSH2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553350758
rs1553350758
MSH2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553350787
rs1553350787
MSH2
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1553350966
rs1553350966
MSH2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553352505
rs1553352505
MSH2
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1553353114
rs1553353114
MSH2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553356700
rs1553356700
MSH2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553361231
rs1553361231
MSH2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553361289
rs1553361289
MSH2
C 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016