Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517763
rs1057517763
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502876
rs1060502876
A 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014

dbSNP: rs1060502888
rs1060502888
A 0.700 CausalMutation CLINVAR Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. 25110875

2015

dbSNP: rs1060502926
rs1060502926
A 0.700 CausalMutation CLINVAR Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. 18269114

2008

dbSNP: rs1060502926
rs1060502926
A 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: rs1060502926
rs1060502926
A 0.700 CausalMutation CLINVAR Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer. 26436112

2015

dbSNP: rs1060502932
rs1060502932
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167765
rs1114167765
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167767
rs1114167767
A 0.700 CausalMutation CLINVAR Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. 26687385

2016

dbSNP: rs1114167767
rs1114167767
A 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012

dbSNP: rs1114167767
rs1114167767
A 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011

dbSNP: rs1553331722
rs1553331722
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553333168
rs1553333168
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553333175
rs1553333175
A 0.700 GeneticVariation CLINVAR [Constitutional mismatch repair deficiency syndrome]. 26200421

2015

dbSNP: rs1553333175
rs1553333175
A 0.700 GeneticVariation CLINVAR Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. 18269114

2008

dbSNP: rs1553333175
rs1553333175
A 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: rs1553408158
rs1553408158
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553412735
rs1553412735
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553413717
rs1553413717
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553414395
rs1553414395
A 0.700 CausalMutation CLINVAR

dbSNP: rs1558394093
rs1558394093
A 0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762

2011

dbSNP: rs1558394093
rs1558394093
A 0.700 CausalMutation CLINVAR An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. 19851887

2010

dbSNP: rs1558394093
rs1558394093
A 0.700 CausalMutation CLINVAR Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. 12019211

2002

dbSNP: rs1558394093
rs1558394093
A 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: rs1558661380
rs1558661380
A 0.700 CausalMutation CLINVAR