Gene: TTR ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918083
rs121918083
TTR
C 0.800 GeneticVariation CLINVAR Cysteine 10 is a key residue in amyloidogenesis of human transthyretin Val30Met. 14695346

2004
dbSNP: rs121918083
rs121918083
TTR
C 0.800 GeneticVariation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918083
rs121918083
TTR
C 0.800 GeneticVariation CLINVAR SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. 19372189

2009
dbSNP: rs121918083
rs121918083
TTR
C 0.800 GeneticVariation CLINVAR A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. 1362222

1992
dbSNP: rs121918083
rs121918083
TTR
C 0.800 GeneticVariation CLINVAR Low plasma concentrations of retinol-binding protein in individuals with mutations affecting position 84 of the transthyretin molecule. 7656439

1995
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. 8038017

1993
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. 14640031

2003
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. 28635949

2017
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Transthyretin Leu 68 in a form of cardiac amyloidosis. 1786038

1992
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: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Asymptomatic homozygous gene carrier in a family with Ile68Leu ATTR amyloidosis: a new endemic region in northern Tuscany? 21540676

2011
dbSNP: rs121918091
rs121918091
TTR
C 0.800 GeneticVariation CLINVAR Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. 8721565

1996
dbSNP: rs121918091
rs121918091
TTR
C 0.800 GeneticVariation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013
dbSNP: rs121918091
rs121918091
TTR
C 0.800 GeneticVariation CLINVAR Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset. 23279339

2012
dbSNP: rs121918091
rs121918091
TTR
C 0.800 GeneticVariation CLINVAR Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. 2046936

1991
dbSNP: rs386134269
rs386134269
TTR
C 0.800 GeneticVariation CLINVAR

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 GeneticVariation CLINVAR Tabulation of human transthyretin (TTR) variants, 2003. 14640030

2003
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 A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy. 9191784

1997
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007