Gene: TTR ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant. 25846356

2015
dbSNP: rs1555631402
rs1555631402
TTR
A 0.700 GeneticVariation CLINVAR Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies. 25828388

2015
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. 25819286

2015
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: rs1567945632
rs1567945632
TTR
A 0.700 GeneticVariation CLINVAR Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis. 25644864

2015
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR The amyloidogenic V122I transthyretin variant in elderly black Americans. 25551524

2015
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation. 25550818

2014
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: rs1555631387
rs1555631387
TTR
G 0.700 GeneticVariation CLINVAR Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. 25044787

2014
dbSNP: rs121918082
rs121918082
TTR
C 0.840 CausalMutation CLINVAR THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease. 24767411

2014
dbSNP: rs11541790
rs11541790
TTR
T 0.800 CausalMutation CLINVAR Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses. 24650283

2014
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR An Afro-Caribbean patient with a thick heart. 24633258

2014
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Gene expression analysis was used to unravel the genetic profiles of Swedish ATTR V30M patients and controls. 24601850

2014
dbSNP: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation. 24480837

2014
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis. 24474780

2014
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. 24455802

2014
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life. 24184229

2014
dbSNP: rs121918096
rs121918096
TTR
T 0.700 CausalMutation CLINVAR Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life. 24184229

2014
dbSNP: rs76992529
rs76992529
TTR
A 0.860 CausalMutation CLINVAR Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center. 24073013

2013
dbSNP: rs121918082
rs121918082
TTR
C 0.840 CausalMutation CLINVAR Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center. 24073013

2013
dbSNP: rs1555631402
rs1555631402
TTR
A 0.700 GeneticVariation CLINVAR Inherited neuropathies: an update. 24061768

2013
dbSNP: rs121918076
rs121918076
TTR
G 0.700 CausalMutation CLINVAR Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. 24053266

2013
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
dbSNP: rs121918075
rs121918075
TTR
G 0.830 CausalMutation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013