TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Familial (FPAH) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138065384
rs138065384
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE Conversely, the p.Phe64Leu generally presented in a high percentage of familial cases in patients coming from Southern Italy. 22592564 2013