MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167857
rs1114167857
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE We report a new germline mutation in exon 13 of the hMSH2 gene (c.2081T>C; F694S) in a patient diagnosed with colorectal carcinoma. 21156417 2010