Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553642657
rs1553642657
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. 20937110

2010
dbSNP: rs1553642657
rs1553642657
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694

2008
dbSNP: rs1553642657
rs1553642657
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements. 16941473

2006
dbSNP: rs1553642657
rs1553642657
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 14635101

2003