Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517541
rs1057517541
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

dbSNP: rs1060500687
rs1060500687
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1060500688
rs1060500688
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500689
rs1060500689
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060500692
rs1060500692
G 0.700 CausalMutation CLINVAR

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

2012

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

2003

dbSNP: rs1060500698
rs1060500698
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
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
GT 0.700 CausalMutation CLINVAR Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience. 24903654

2015

dbSNP: rs1060500699
rs1060500699
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
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
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500706
rs1060500706
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500707
rs1060500707
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1064794331
rs1064794331
ATGTGCCCC 0.700 CausalMutation CLINVAR

dbSNP: rs1064795441
rs1064795441
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064796057
rs1064796057
G 0.700 CausalMutation CLINVAR

dbSNP: rs1248251121
rs1248251121
T 0.700 CausalMutation CLINVAR

dbSNP: rs1302248679
rs1302248679
T 0.700 CausalMutation CLINVAR

dbSNP: rs1416171624
rs1416171624
A 0.700 CausalMutation CLINVAR

dbSNP: rs1434898623
rs1434898623
A 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011

dbSNP: rs1434898623
rs1434898623
A 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005

dbSNP: rs1434898623
rs1434898623
A 0.700 CausalMutation CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088

2015

dbSNP: rs1434898623
rs1434898623
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