Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1054003194
rs1054003194
MSH6 ; FBXO11
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1057517541
rs1057517541
MLH1
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs1057517551
rs1057517551
MSH6 ; FBXO11
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1057517763
rs1057517763
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR

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: rs1057517764
rs1057517764
MSH6 ; FBXO11
AT 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
dbSNP: rs1057517801
rs1057517801
PMS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057524433
rs1057524433
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500687
rs1060500687
MLH1
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1060500688
rs1060500688
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500689
rs1060500689
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060500692
rs1060500692
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060500698
rs1060500698
MLH1
C 0.700 CausalMutation CLINVAR Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients. 21901500

2012
dbSNP: rs1060500698
rs1060500698
MLH1
C 0.700 CausalMutation CLINVAR N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. 12799449

2003
dbSNP: rs1060500698
rs1060500698
MLH1
C 0.700 CausalMutation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529

2010
dbSNP: rs1060500698
rs1060500698
MLH1
C 0.700 CausalMutation CLINVAR Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. 16338176

2006
dbSNP: rs1060500699
rs1060500699
MLH1
GT 0.700 CausalMutation CLINVAR Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience. 24903654

2015
dbSNP: rs1060500699
rs1060500699
MLH1
GT 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
dbSNP: rs1060500699
rs1060500699
MLH1
GT 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs1060500703
rs1060500703
MLH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500706
rs1060500706
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500707
rs1060500707
MLH1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1060501989
rs1060501989
MSH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501991
rs1060501991
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: rs1060501991
rs1060501991
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