Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709

2014
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. 19459153

2009
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482

2008
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773

1996
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. 8646682

1996