Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013
dbSNP: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience. 20209591

2010
dbSNP: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. 19781421

2009
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. 17453626

2007
dbSNP: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074

2005
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). 15214015

2004
dbSNP: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR The hereditary amyloidoses. 15123043

2003
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. 12403615

2002
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338

2002
dbSNP: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy. 12039669

2002
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). 11445644

2001
dbSNP: rs121918089
rs121918089
TTR
0.800 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: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. 10211412

1999
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117

1999
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. 10611950

1999
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047

1999
dbSNP: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. 9748014

1998
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT Transthyretin amyloidosis: a new mutation associated with dementia. 9066351

1997
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. 7850982

1995
dbSNP: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). 7914929

1994
dbSNP: rs121918089
rs121918089
TTR
0.800 GeneticVariation UNIPROT "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy." 8019560

1994
dbSNP: rs121918089
rs121918089
TTR
G 0.800 CausalMutation CLINVAR Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis. 8081397

1994