Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749993
rs63749993
MSH2
G 0.700 CausalMutation CLINVAR The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. 22739024

2012
dbSNP: rs63749993
rs63749993
MSH2
G 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011
dbSNP: rs63749993
rs63749993
MSH2
G 0.700 CausalMutation CLINVAR Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome. 21225464

2011
dbSNP: rs63749993
rs63749993
MSH2
G 0.700 CausalMutation CLINVAR Genealogical tree study as screening method in the Lynch syndrome prior to genetic test. 20010080

2010
dbSNP: rs63749993
rs63749993
MSH2
G 0.700 CausalMutation CLINVAR Tumour spectrum of non-polyposis colorectal cancer (Lynch syndrome) on the island of Tenerife and influence of insularity on the clinical manifestations. 15075785

2004
dbSNP: rs63749993
rs63749993
MSH2
G 0.700 CausalMutation CLINVAR Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer. 10080150

1999