Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Three Turkish families with different transthyretin mutations. 26115788

2015

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: 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: 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: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Genotype--phenotype correlation in FAP. 22620962

2012

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Inability of mutant transthyretin V30M to cross the blood-eye barrier. 23080516

2012

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy. 19709674

2009

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy. 19808383

2009

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. 18925456

2008

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). 17698792

2007

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR The biological and chemical basis for tissue-selective amyloid disease. 15820680

2005

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants. 16194874

2005

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR A Swedish family with the rare Phe33Leu transthyretin mutation. 16194875

2005

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Amyloidogenic and anti-amyloidogenic properties of recombinant transthyretin variants. 15185492

2004

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. 15249622

2004

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Cardiac amyloidosis occurs in the classical form of FAP with ATTR Val30Met, especially in older patients, and is also a common clinical manifestation in FAP patients with non-Val30Met ATTRs. 14986482

2003

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Tabulation of human transthyretin (TTR) variants, 2003. 14640030

2003

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type. 11940682

2002

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707

2001

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings. 11709003

2001

dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). 6736244

1984

dbSNP: rs28933979
rs28933979
TTR
C 0.900 CausalMutation CLINVAR

dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Hereditary Transthyretin Amyloidosis in Eight Chinese Families. 26521788

2015

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