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: rs267608002
rs267608002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore. 24710284 2014
dbSNP: rs267608002
rs267608002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
dbSNP: rs267608002
rs267608002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non-polyposis colorectal cancer: a cost-effective screening strategy proposal. 18307539 2008
dbSNP: rs267608002
rs267608002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history. 17189986 2006
dbSNP: rs267608002
rs267608002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 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: rs267608002
rs267608002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 12362047 2002