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: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2936349
Disease:
Plaque, Amyloid 		0.020 GeneticVariation BEFREE Vitreous amyloid deposits are one of the most common ocular manifestations of familial amyloidosis ATTR V30M (FAP-I), which can be the only manifestation of the disease and can appear even after liver transplantation. 21358362 2011
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2936349
Disease:
Plaque, Amyloid 		0.020 GeneticVariation BEFREE Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy. 19709674 2009