TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Systemic amyloidosis ×
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: C0268380
Disease:
Systemic amyloidosis 		0.010 GeneticVariation BEFREE Type I familial amyloidotic polyneuropathy (FAP), a systemic amyloidosis, is characterized by aggregation of variant transthyretin (TTR Val30Met) into stable, insoluble fibrils. 14695346 2004
dbSNP: rs121918098
rs121918098
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268380
Disease:
Systemic amyloidosis 		0.010 GeneticVariation BEFREE It is perplexing that D18G does not lead to severe early onset systemic amyloidosis, given that it is the most destabilized TTR variant characterized to date, more so than variants exhibiting onset in the second decade. 12779320 2003
dbSNP: rs121918093
rs121918093
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268380
Disease:
Systemic amyloidosis 		0.010 GeneticVariation BEFREE A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis. 8692810 1996