Gene: TTR ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene. 17577688

2007
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs1567945632
rs1567945632
TTR
A 0.700 GeneticVariation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Ten years of experience with liver transplantation for familial amyloid polyneuropathy in Japan: outcomes of living donor liver transplantations. 16357452

2005
dbSNP: rs1567945632
rs1567945632
TTR
A 0.700 GeneticVariation CLINVAR The biological and chemical basis for tissue-selective amyloid disease. 15820680

2005
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR The hereditary amyloidoses. 15123043

2003
dbSNP: rs121918096
rs121918096
TTR
T 0.700 GeneticVariation CLINVAR Tabulation of human transthyretin (TTR) variants, 2003. 14640030

2003
dbSNP: rs1567945632
rs1567945632
TTR
A 0.700 GeneticVariation CLINVAR Tabulation of human transthyretin (TTR) variants, 2003. 14640030

2003
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. 11940682

2002
dbSNP: rs121918096
rs121918096
TTR
T 0.700 GeneticVariation CLINVAR Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707

2001
dbSNP: rs121918096
rs121918096
TTR
T 0.700 GeneticVariation CLINVAR Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome. 11140845

2000
dbSNP: rs121918096
rs121918096
TTR
T 0.700 CausalMutation CLINVAR Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome. 11140845

2000
dbSNP: rs121918096
rs121918096
TTR
T 0.700 GeneticVariation CLINVAR A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy. 9191784

1997
dbSNP: rs1567945632
rs1567945632
TTR
A 0.700 GeneticVariation CLINVAR Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G) 8579098

1996
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. 1335038

1992
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. 1301926

1992
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). 2363717

1990
dbSNP: rs104894664
rs104894664
TTR
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918074
rs121918074
TTR
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. 28635949

2017
dbSNP: rs876658108
rs876658108
TTR
T 0.800 CausalMutation CLINVAR Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. 28635949

2017
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. 26537620

2016
dbSNP: rs121918091
rs121918091
TTR
C 0.800 CausalMutation CLINVAR The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience. 26428663

2016
dbSNP: rs121918070
rs121918070
TTR
G 0.800 CausalMutation CLINVAR Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. 26017327

2015
dbSNP: rs121918070
rs121918070
TTR
G 0.800 CausalMutation CLINVAR Differential Myocyte Responses in Patients with Cardiac Transthyretin Amyloidosis and Light-Chain Amyloidosis: A Cardiac MR Imaging Study. 25997029

2015