Gene: TTR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR The amyloidogenic V122I transthyretin variant in elderly black Americans. 25551524

2015
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. 9017939

1997
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis. 24474780

2014
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies. 20435197

2010
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). 22877808

2012
dbSNP: rs76992529
rs76992529
TTR
A 0.860 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: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. 25819286

2015
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Different disease-causing mutations in transthyretin trigger the same conformational conversion. 18276611

2008
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. 2349941

1990
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant. 25846356

2015
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013
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: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience. 20209591

2010
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: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy. 9196903

1997
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography. 25526974

2015
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR The biological and chemical basis for tissue-selective amyloid disease. 15820680

2005
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. 9748569

1998
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses. 19602727

2009
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: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis. 25743445

2015
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants. 14968122

2004
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007