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 Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation. 26763274

2016

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant. 15804246

2005

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE In addition to the findings characteristic of homozygosity for ATTR Val30Met such as vitreous amyloidosis and relatively less autonomic involvements, this case had the unique findings of motor-dominant sensorimotor polyneuropathy and unusual sural nerve biopsy specimen results. 11709003

2001

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE In the Non-Val30Met group no differences were found between DR and FAP patients pre-LT. TTR-amyloidosis symptoms showed no differences in FAP patients pre- and 5 years post-LT, irrespective of Val30Met status. 30091268

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis. 15523922

2004

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Here, we present a 2.97 Å cryo electron microscopy structure of a fibril purified from the tissue of a patient with hereditary Val30Met ATTR amyloidosis. 31676763

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE All three variants showed aberrant banding patterns that were similar to those of other well-characterized TTR variants, including the common Val30Met variant that causes ATTR amyloidosis. 31074293

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE This phase II, open-label, single-treatment arm study evaluated the pharmacodynamics, efficacy, and safety of tafamidis in patients with non-Val30Met transthyretin (TTR) amyloidosis. 24101373

2013

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Of patients with ATTRV30M amyloidosis in endemic and non-endemic areas, and non-V</span>3</span>0M ATTR amyloidosis, 63.6, 66.0, and 27.5% initially presented with polyneuropathy, respectively. 29177547

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE However, the ocular manifestations of amyloid deposition progressed despite tafamidis therapy in Val30Met TTR amyloidosis, and the effects of tafamidis on meningovascular amyloidosis are unknown. 29779881

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE ATTRV30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by amyloid deposition composed of aggregated misfolded TTR monomers with the V30M mutation. 30572722

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Patients were divided into three groups: 1- Val30Met with cardiac amyloidosis; 2-Val30Met with extracardiac amyloidosis; 3 - Val30Met without evidence of disease. 27992035

2017

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE We report on two elderly patients (an 80-year-old woman and an 83-year-old man) with progressive vitreous opacities (VOs) as the initial manifestation of hereditary transthyretin (ATTR Val30Met) carries, who had no evidence of systemic involvement or family history of amyloidosis and lived in non-endemic areas. 28085522

2017

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by deposition of aberrant transthyretin (TTR). 28539873

2017

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 Nerve biopsy confirmed amyloid deposits in nerves, and molecular genetic analysis showed a mutation of the transthyretin (V30M) gene for 3 patients; the 2 other patients had acquired amyloidosis. 22190302

2012

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE We describe a case of vitreous amyloidosis without systemic symptoms in familial amyloidotic polyneuropathy (FAP) associated with Val30Met transthyretin mutation. 15678760

2004

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Can echocardiography and ECG discriminate hereditary transthyretin V30M amyloidosis from hypertrophic cardiomyopathy? 26104852

2015

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Late-onset hereditary ATTR V30M amyloidosis with polyneuropathy: Characterization of Brazilian subjects from the THAOS registry. 31163298

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Families with a variant transthyretin (TTR V30M)-associated familial amyloidotic polyneuropathy (FAP) exhibit genetic anticipation, with TTR V30M-amyloid depositing at an earlier age in successive generations. 15478467

2004

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE We analyzed the relationship between the occurrence of acquired amyloidosis and clinical features in 22 consecutive domino liver donors with hereditary TTR amyloidosis (10 males and 12 females; mean age at DLT: 37.2 years; TTR mutations: V30M [n = 19], Y114C [n = 1], L55P [n = 1], and S50I [n = 1]) and 22 liver recipients (16 males and 6 females; mean age at DLT, 46.2 years). 26600212

2016

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. 18729067

2008

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Why does ATTR Val30Met amyloidosis alone demonstrate foci of occurrence? 30486687

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease. 29357699

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE The peptide elution pattern seen for the individuals with confirmed amyloidosis is consistent for the presence of a prealbumin variant with a methionine for valine at position 30 of the molecule. 3820203

1986