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

2017
dbSNP: rs121918082
rs121918082
TTR
C 0.840 CausalMutation CLINVAR Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area. 27858761

2015
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Endomyocardial biopsy in patients with cardiomyopathy of unknown origin: does specialized center experience apply to a tertiary care hospital? 27724962

2016
dbSNP: rs121918090
rs121918090
TTR
C 0.810 CausalMutation CLINVAR Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells. 27584576

2016
dbSNP: rs121918082
rs121918082
TTR
C 0.840 CausalMutation CLINVAR Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey. 27238058

2016
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry. 26656838

2016
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: rs76992529
rs76992529
TTR
A 0.860 CausalMutation 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 Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. 26537620

2016
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Hereditary Transthyretin Amyloidosis in Eight Chinese Families. 26521788

2015
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience. 26428663

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: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. 26369527

2015
dbSNP: rs876658108
rs876658108
TTR
T 0.800 CausalMutation CLINVAR Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. 26208957

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

2015
dbSNP: rs121918100
rs121918100
TTR
C 0.800 CausalMutation CLINVAR Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087

2015
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. 26123279

2015
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Three Turkish families with different transthyretin mutations. 26115788

2015
dbSNP: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Three Turkish families with different transthyretin mutations. 26115788

2015
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