Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes. 28687971

2018
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. 21056691

2011
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer. 15680406

2005
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours. 14574162

2003
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176

2002
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Cancer risk associated with germline DNA mismatch repair gene mutations. 9002677

1997
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Mapping the minimal domain of hMSH-2 sufficient for binding mismatched oligonucleotides. 9125109

1997
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961

1996
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463

1996
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. 8592341

1995
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. 7874129

1994