Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607777
rs267607777
MLH1
G 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs267607777
rs267607777
MLH1
G 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011
dbSNP: rs267607777
rs267607777
MLH1
G 0.700 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs267607777
rs267607777
MLH1
G 0.700 CausalMutation CLINVAR Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome. 17653898

2007