TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Adenomatous Polyposis Coli ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933981
rs28933981
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		0.010 GeneticVariation BEFREE In addition, we have characterized the Thr-119-Met TTR variant, which is a common nonpathogenic variant in the Portuguese population, to further investigate the role that this mutation plays in protecting individuals who also carry the Val-30-Met mutation against the classically severe FAP pathology. 7577941 1995