TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Cardiomyopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918090
rs121918090
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE This mutation (G47A) was previously identified in two different families of Italian origin both of which had FAP and cardiomyopathy. 12557758 2002