TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Plaque, Amyloid ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918097
rs121918097
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2936349
Disease:
Plaque, Amyloid 		0.010 GeneticVariation BEFREE Brain specimens showed that the leptomeningeal vessels walls were thickened by amyloid deposits, and sequencing of the TTR exons showed a heterozygous single base-pair transition from G to A (codon 53), resulting in a glycine for glutamic acid substitution (G53E). 11445644 2001