Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039646
rs886039646
PMS2
C 0.700 GeneticVariation CLINVAR [Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute]. 26691941

2016
dbSNP: rs267607901
rs267607901
MLH1
C 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs267607906
rs267607906
MLH1
T 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs878853787
rs878853787
MLH1
TA 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs1553333175
rs1553333175
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR [Constitutional mismatch repair deficiency syndrome]. 26200421

2015
dbSNP: rs63751137
rs63751137
MLH1
G 0.700 CausalMutation CLINVAR [A method of study for stomatological materials]. 1061282

1976
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: rs63750603
rs63750603
MLH1
C 0.700 GeneticVariation CLINVAR What scientists would like to tell you about reprogramming (if only they knew!). Preface. 21404177

2010
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: rs63750850
rs63750850
MLH1
A 0.700 GeneticVariation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
dbSNP: rs63750934
rs63750934
MSH2
T 0.700 CausalMutation CLINVAR Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1. 10495924

1999
dbSNP: rs63750871
rs63750871
PMS2
A 0.700 CausalMutation CLINVAR Variation in the extent of microsatellite instability in human cell lines with defects in different mismatch repair genes. 12714694

2003
dbSNP: rs267607969
rs267607969
MSH2
A 0.700 CausalMutation CLINVAR Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro. 16142001

2005
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: rs587782336
rs587782336
PMS2
G 0.700 CausalMutation 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: rs281864938
rs281864938
MLH1
G 0.700 CausalMutation CLINVAR Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. 16116158

2005
dbSNP: rs28929483
rs28929483
MSH2
T 0.700 CausalMutation CLINVAR Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. 16116158

2005
dbSNP: rs587778618
rs587778618
PMS2
A 0.700 CausalMutation CLINVAR Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency. 22608206

2012