Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749849
rs63749849
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799 2015
dbSNP: rs63749849
rs63749849
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. 25117503 2014
dbSNP: rs63749849
rs63749849
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055 2014
dbSNP: rs63749849
rs63749849
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Lynch Syndrome in high risk Ashkenazi Jews in Israel. 23990280 2014
dbSNP: rs63749849
rs63749849
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Mutation spectrum in South American Lynch syndrome families. 24344984 2013
dbSNP: rs63749849
rs63749849
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200 2005
dbSNP: rs63749849
rs63749849
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
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: rs63749849
rs63749849
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 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