Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751428
rs63751428
MLH1
T 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412

2010
dbSNP: rs63751428
rs63751428
MLH1
T 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs63751428
rs63751428
MLH1
T 0.700 CausalMutation CLINVAR Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. 16034045

2005
dbSNP: rs63751428
rs63751428
MLH1
T 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 12362047

2002
dbSNP: rs63751428
rs63751428
MLH1
T 0.700 CausalMutation CLINVAR Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer. 10323887

1999
dbSNP: rs63751428
rs63751428
MLH1
T 0.700 CausalMutation CLINVAR Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. 9298827

1997
dbSNP: rs63751428
rs63751428
MLH1
T 0.700 CausalMutation CLINVAR Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. 7704024

1995