Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy." 8019560

1994
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 A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. 9748569

1998
dbSNP: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. 3818577

1986
dbSNP: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT A new transthyretin mutation associated with amyloid cardiomyopathy. 1570831

1992
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 Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience. 20209591

2010
dbSNP: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT Transthyretin amyloidosis: a new mutation associated with dementia. 9066351

1997
dbSNP: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338

2002
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
0.820 GeneticVariation UNIPROT Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074

2005
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
0.820 GeneticVariation UNIPROT Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. 10611950

1999
dbSNP: rs121918069
rs121918069
TTR
0.820 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: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. 7850982

1995
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 Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses. 19602727

2009
dbSNP: rs121918069
rs121918069
TTR
G 0.820 CausalMutation CLINVAR

dbSNP: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. 10436378

1999
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. 12403615

2002
dbSNP: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918069
rs121918069
TTR
0.820 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117

1999
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 A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy. 9196903

1997