Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11541790
rs11541790
TTR
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
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
0.800 GeneticVariation UNIPROT Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. 24368466

2013
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