Gene: TTR ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555631390
rs1555631390
TTR
GTGAGTC 0.700 CausalMutation CLINVAR Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease. 29941560

2018
dbSNP: rs1555631402
rs1555631402
TTR
A 0.700 GeneticVariation CLINVAR Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing. 29455155

2018
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds. 27859927

2017
dbSNP: rs121918096
rs121918096
TTR
T 0.700 CausalMutation CLINVAR Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry. 26656838

2016
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Three Turkish families with different transthyretin mutations. 26115788

2015
dbSNP: rs1555631402
rs1555631402
TTR
A 0.700 GeneticVariation CLINVAR Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. 26208957

2015
dbSNP: rs1555631402
rs1555631402
TTR
A 0.700 GeneticVariation CLINVAR Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies. 25828388

2015
dbSNP: rs1567945632
rs1567945632
TTR
A 0.700 GeneticVariation CLINVAR Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis. 25644864

2015
dbSNP: rs121918096
rs121918096
TTR
T 0.700 CausalMutation CLINVAR Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life. 24184229

2014
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. 25044787

2014
dbSNP: rs121918076
rs121918076
TTR
G 0.700 CausalMutation CLINVAR Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. 24053266

2013
dbSNP: rs121918076
rs121918076
TTR
G 0.700 CausalMutation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
dbSNP: rs121918076
rs121918076
TTR
G 0.700 CausalMutation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013
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: rs1555631402
rs1555631402
TTR
A 0.700 GeneticVariation CLINVAR Inherited neuropathies: an update. 24061768

2013
dbSNP: rs1567945632
rs1567945632
TTR
A 0.700 GeneticVariation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
dbSNP: rs121918076
rs121918076
TTR
G 0.700 CausalMutation CLINVAR Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation. 22928869

2012
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation. 22928869

2012
dbSNP: rs1555631402
rs1555631402
TTR
A 0.700 GeneticVariation CLINVAR Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 22580845

2012
dbSNP: rs1567945632
rs1567945632
TTR
A 0.700 GeneticVariation CLINVAR A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant? 23126592

2012
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 21692911

2011
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation. 20686303

2010
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience. 20209591

2010
dbSNP: rs1567945632
rs1567945632
TTR
A 0.700 GeneticVariation CLINVAR Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience. 20209591

2010
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007