Gene: MSH6 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553333175
rs1553333175
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR [Constitutional mismatch repair deficiency syndrome]. 26200421

2015
dbSNP: rs1114167767
rs1114167767
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012
dbSNP: rs63749873
rs63749873
MSH6 ; FBXO11
G 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012
dbSNP: rs267608077
rs267608077
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability. 17117178

2006
dbSNP: rs267608078
rs267608078
MSH6 ; FBXO11
AC 0.700 CausalMutation CLINVAR Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability. 17117178

2006
dbSNP: rs587779285
rs587779285
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs63749942
rs63749942
MSH6 ; FBXO11
T 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs587783056
rs587783056
MSH6 ; FBXO11
G 0.700 CausalMutation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681

2015
dbSNP: rs267608083
rs267608083
MSH6 ; FBXO11
CA 0.700 CausalMutation CLINVAR Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. 28195393

2017
dbSNP: rs1553413116
rs1553413116
MSH6 ; FBXO11
G 0.700 CausalMutation CLINVAR UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. 23729658

2013
dbSNP: rs587779259
rs587779259
MSH6 ; FBXO11
T 0.700 CausalMutation CLINVAR UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. 23729658

2013
dbSNP: rs587779285
rs587779285
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. 23729658

2013
dbSNP: rs63749942
rs63749942
MSH6 ; FBXO11
T 0.700 CausalMutation CLINVAR UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. 23729658

2013
dbSNP: rs1553331366
rs1553331366
MSH6 ; FBXO11
AT 0.700 CausalMutation CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827

2000
dbSNP: rs1553414395
rs1553414395
MSH6 ; FBXO11
G 0.700 CausalMutation CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827

2000
dbSNP: rs587779232
rs587779232
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827

2000
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
C 0.700 CausalMutation CLINVAR Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. 16283884

2005
dbSNP: rs1057517764
rs1057517764
MSH6 ; FBXO11
AT 0.700 CausalMutation CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032

2014
dbSNP: rs200492211
rs200492211
MSH6 ; FBXO11
T 0.700 CausalMutation CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032

2014
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
T 0.700 CausalMutation CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032

2014
dbSNP: rs63750194
rs63750194
MSH6 ; FBXO11
G 0.700 CausalMutation CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032

2014
dbSNP: rs63751319
rs63751319
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032

2014
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
TA 0.700 CausalMutation CLINVAR The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. 20682701

2010
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
C 0.700 CausalMutation CLINVAR The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. 16360201

2006
dbSNP: rs1060502876
rs1060502876
MSH6 ; FBXO11
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