Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918082
rs121918082
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840 GeneticVariation BEFREE Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation. 31826067

2019

dbSNP: rs76992529
rs76992529
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.860 GeneticVariation BEFREE Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry. 31821430

2019

dbSNP: rs267607161
rs267607161
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.870 GeneticVariation BEFREE Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser. 31521469

2020

dbSNP: rs121918082
rs121918082
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840 GeneticVariation BEFREE Transthyretin amyloidosis with a Glu89Gln mutation was diagnosed. 31517333

2019

dbSNP: rs267607161
rs267607161
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.870 GeneticVariation BEFREE This study confirmed the structural modulation effect of tafamidis on A97S-TTR and implied the potential therapeutic benefit of tafamidis for A97S TTR-FAP. 31502419

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 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 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 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: rs267607161
rs267607161
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.870 GeneticVariation BEFREE This is the first FAP family with a proven missense mutation c.349G>T in Mainland China, as well as the first FAP case with chronic paroxysmal dry cough. 30361054

2019

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: rs1555631390
rs1555631390
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
GTGAGTC 0.700 CausalMutation CLINVAR Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease. 29941560

2018

dbSNP: rs267607161
rs267607161
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.870 GeneticVariation BEFREE Herein, we demonstrate genetic confirmation of the ATTR Ala97Ser mutation, the most common endemic mutation in Taiwan. 29939164

2018

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: rs1555631402
rs1555631402
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
A 0.700 GeneticVariation CLINVAR Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing. 29455155

2018

dbSNP: rs267607161
rs267607161
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.870 GeneticVariation BEFREE These results demonstrate that the hTTR<sup>A97S</sup> mouse model develops sensory nerve pathology and corresponding physiology mimicking A97S-FAP and provides a platform to develop new therapies for the early stage of A97S-FAP. 29423915

2018

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: rs876658108
rs876658108
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
T 0.800 CausalMutation CLINVAR Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. 28635949

2017

dbSNP: rs121918085
rs121918085
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
T 0.800 GeneticVariation CLINVAR Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. 28635949

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: rs121918068
rs121918068
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation BEFREE A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported. 28412068

2017

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 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: rs121918081
rs121918081
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation BEFREE Two mutations, Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136 Ser), were detected in Chinese FAP patients for the first time. 27859927

2017

dbSNP: rs1555631387
rs1555631387
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
G 0.700 GeneticVariation CLINVAR Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds. 27859927

2017