Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families. 30615214

2019

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families. 30811423

2019

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE As found in a study in Cyprus, we confirmed the role of complement <i>C1Q</i> genes (and thus of inflammation) as modulator of AO in Portuguese patients with TTR-FAP Val30Met. 31019999

2019

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE Demographic and clinical data at the time of enrolment for Brazilian subjects with symptomatic V30M ATTRv-PN were extracted from the ongoing, multinational, longitudinal, observational Transthyretin Amyloidosis Outcomes Survey (THAOS; cut-off date: January 30, 2017). 31163298

2019

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE This longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met). 29581083

2018

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. 28327574

2017

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP. 28479268

2017

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). 28813711

2017

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest. 26286643

2016

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE Liver transplantation had beneficial effects on FAP clinical manifestations in patients with FAP TTR V30M. 26763274

2016

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation. 26984605

2016

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed. 27794111

2016

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment. 27884058

2016

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
A 0.900 CausalMutation CLINVAR Three Turkish families with different transthyretin mutations. 26115788

2015

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients regardless of LT. Longer disease duration after LT can provide the necessary time for transthyretin amyloidosis to progress until it becomes clinically relevant. 25091367

2015

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE The overall 5-year survival rate is approximately 100% for V30M patients and 59% for non-ATTR V30M patients. 25482846

2015

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE 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: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation BEFREE Diflunisal might be effective especially for autonomic dysfunction in late-onset FAP with a TTR Val30Met mutation. 25060417

2014

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 GeneticVariation UNIPROT Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. 24368466

2013