Gene: TTR ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933979
rs28933979
TTR
0.900 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: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. 24368466

2013
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. 17453626

2007
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074

2005
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). 15214015

2004
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. 12403615

2002
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338

2002
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). 11445644

2001
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass spectrometry (MS) system was used to detect variant transthyretin (TTR) in immunoprecipitated serum TTR molecules obtained from 6 patients with familial amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met. 10611950

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. 10211412

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 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: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Transthyretin amyloidosis: a new mutation associated with dementia. 9066351

1997
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. 7850982

1995
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy." 8019560

1994
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. 1351039

1992
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A new transthyretin mutation associated with amyloid cardiomyopathy. 1570831

1992
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. 2161654

1990
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. 2891727

1988
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. 3818577

1986
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. 17453626

2007
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074

2005