Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751221
rs63751221
MLH1
T 0.700 CausalMutation CLINVAR Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. 19698169

2009
dbSNP: rs63751221
rs63751221
MLH1
T 0.700 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306

2007
dbSNP: rs63751221
rs63751221
MLH1
T 0.700 CausalMutation CLINVAR Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study. 17267619

2007
dbSNP: rs63751221
rs63751221
MLH1
T 0.700 CausalMutation 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: rs63751221
rs63751221
MLH1
T 0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200

2005
dbSNP: rs63751221
rs63751221
MLH1
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
dbSNP: rs63751221
rs63751221
MLH1
T 0.700 CausalMutation CLINVAR The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. 11606497

2001
dbSNP: rs63751221
rs63751221
MLH1
T 0.700 CausalMutation CLINVAR Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases. 10995807

2000