Gene: TTR ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894664
rs104894664
TTR
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894665
rs104894665
TTR
C 0.800 CausalMutation CLINVAR

dbSNP: rs11541790
rs11541790
TTR
T 0.800 CausalMutation CLINVAR Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses. 24650283

2014
dbSNP: rs11541790
rs11541790
TTR
T 0.800 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs11541790
rs11541790
TTR
T 0.800 CausalMutation CLINVAR A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. 7643356

1995
dbSNP: rs11541796
rs11541796
TTR
G 0.810 CausalMutation CLINVAR

dbSNP: rs121918068
rs121918068
TTR
A 0.810 CausalMutation CLINVAR

dbSNP: rs121918068
rs121918068
TTR
C 0.810 CausalMutation CLINVAR

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 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 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 The biological and chemical basis for tissue-selective amyloid disease. 15820680

2005
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 A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy. 9196903

1997
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
G 0.820 CausalMutation CLINVAR

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 Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. 2613237

1989
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: rs121918070
rs121918070
TTR
G 0.800 CausalMutation CLINVAR Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. 7608709

1995
dbSNP: rs121918070
rs121918070
TTR
G 0.800 CausalMutation CLINVAR Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses. 19602727

2009
dbSNP: rs121918070
rs121918070
TTR
G 0.800 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918070
rs121918070
TTR
G 0.800 CausalMutation CLINVAR Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. 3030336

1987