Gene: TTR ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR This study investigated skin innervation and its clinical significance in genetically defined FAP due to a hot-spot Ala97Ser TTR mutation (Ala97Ser). 20697105

2010
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Pathology and functional diagnosis of small-fiber painful neuropathy. 20714957

2010
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR These five FAP patients shared an identical missense mutation, Ala97Ser, in the TTR gene. 18022643

2008
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 Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

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

2005
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). 15214015

2004
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Tabulation of human transthyretin (TTR) variants, 2003. 14640030

2003
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. 14986482

2003
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR The hereditary amyloidoses. 15123043

2003
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. 12403615

2002
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338

2002
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707

2001
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). 11445644

2001
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT ATTR Phe33Val was found in a Chinese FAP patient and ATTR Ala97Ser in a Taiwanese. 10611950

1999
dbSNP: rs267607161
rs267607161
TTR
0.870 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: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047

1999
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR ATTR Phe33Val was found in a Chinese FAP patient and ATTR Ala97Ser in a Taiwanese. 10611950

1999
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. 10211412

1999
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117

1999
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT Transthyretin amyloidosis: a new mutation associated with dementia. 9066351

1997
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. 7850982

1995
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy." 8019560

1994
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly). 8133316

1994
dbSNP: rs267607161
rs267607161
TTR
0.870 GeneticVariation UNIPROT Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. 1351039

1992