Gene: TTR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE The disease model of familial amyloidotic polyneuropathy-7.2-hMet30 mice-manifests amyloid deposition that consists of a human amyloidogenic mutant transthyretin (TTR) (TTR V30M). 29288430

2018
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE 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
0.100 GeneticVariation BEFREE To determine whether CLR01 was effective in vivo, we tested the compound in mice expressing TTR V30M, a model of familial amyloidotic polyneuropathy, which recapitulates the main pathological features of the human disease. 24459092

2014
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Impact of antibodies against amyloidogenic transthyretin (ATTR) on phenotypes of patients with familial amyloidotic polyneuropathy (FAP) ATTR Valine30Methionine. 23462670

2013
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report. 15523922

2004
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation. 8599155

1996
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE In familial amyloidotic polyneuropathy type I the protein constituent is a variant transthyretin molecule that has a Val to Met substitution at residue 30. 7490736

1995
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE A case of severe cardiac involvement is reported in a patient affected with familial amyloidotic polyneuropathy due to the Portuguese type I variant (Val-->Met30) of the transthyretin (prealbumin) molecule. 7987869

1994
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE A plasma prealbumin variant with a methionine-for-valine substitution at position 30 is closely associated with familial amyloidotic polyneuropathy (FAP) type I. 3756182

1986
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE A transthyretin variant with a methionine for valine substitution at position 30 [TTR(Met30)] is found in Portuguese patients with familial amyloidotic polyneuropathy (FAP). 3908483

1985
dbSNP: rs121918077
rs121918077
TTR
0.010 GeneticVariation BEFREE We observed failure of tafamidis to halt progression of oculomeningovascular amyloid deposition in a patient with familial Ala36Pro TTR amyloidosis. 29779881

2018
dbSNP: rs138065384
rs138065384
TTR
0.010 GeneticVariation BEFREE Conversely, the p.Phe64Leu generally presented in a high percentage of familial cases in patients coming from Southern Italy. 22592564

2013
dbSNP: rs121918075
rs121918075
TTR
0.010 GeneticVariation BEFREE To clarify the pathogenesis of leptomeningeal amyloidosis in familial amyloidotic polyneuropathy amyloidogenic transthyretin Y114C (FAP ATTR Y114C). 16217058

2005
dbSNP: rs121918098
rs121918098
TTR
0.010 GeneticVariation BEFREE This is the second report of familial leptomeningeal amyloidosis with an Asp18Gly TTR gene mutation, clinically causing only CNS symptoms. 15377697

2004
dbSNP: rs76992529
rs76992529
TTR
0.010 GeneticVariation BEFREE The V122I variant is the most common amyloidogenic mutation worldwide, producing familial amyloidotic cardiomyopathy primarily in individuals of African descent. 11752443

2001
dbSNP: rs121918095
rs121918095
TTR
0.010 GeneticVariation BEFREE Recently, a new nonpathogenic transthyretin (TTR) variant-TTR R104H (TTR H104)-has been described in heterozygotic and compound heterozygotic individuals from a Japanese family with familial amyloidotic polyneuropathy (FAP). 10772944

2000