MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751207
rs63751207
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
dbSNP: rs63751207
rs63751207
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482 2008
dbSNP: rs63751207
rs63751207
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722 2007
dbSNP: rs63751207
rs63751207
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 GeneticVariation 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: rs63751207
rs63751207
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030 2004
dbSNP: rs63751207
rs63751207
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Mutator phenotypes of common polymorphisms and missense mutations in MSH2. 10469597 1999
dbSNP: rs63751207
rs63751207
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Genetic instability in human ovarian cancer cell lines. 7937795 1994