Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE <b>Background:</b> African-Americans (AAs) have a 3.5% carrier prevalence of <i>Transthyretin</i> (<i>TTR</i>) Val122Ile mutation (rs76992529), which is the genetic cause of a hereditary form of amyloidosis. 30813263

2019

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE We studied 711 patients with wild-type ATTR-CM, 205 with hereditary ATTR-CM associated with the V1221 variant (V122I-hATTR-CM), and 118 with non-V122I-hATTR-CM at the UK National Amyloidosis Center between 2000 and 2017. 31109193

2019

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE There were a total of 226 patients with ATTRwt and ATTR V122I amyloidosis evaluated during the specified time frame with 155 and 71 patients in each cohort, respectively. 29424556

2018

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE We report the first known case of a patient who had amyloidosis both due to a mutant transthyretin (p.Val122Ile) and due to a novel variant in the gelsolin gene (p.Ala578Pro). 30093168

2018

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE There were no differences in survival between patients with a grade 1, grade 2 or grade 3 99mTc-DPD scan in ATTRwt (n = 369), V122I-associated ATTRm (n = 92) or T60A-associated ATTRm (n = 59) amyloidosis. 28159995

2017

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF. 28196196

2017

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE Unexpectedly, in our amyloidosis referral centre, we identified five patients (15.1% of all TTRm diagnosed patients, three families, two singleton) with Val142Ile variant belonging to unrelated families of Caucasian origin. 26428663

2016

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE Our results highlighted that cis-regulatory variants may contribute to the cardiac TTR-related amyloidosis observed in patients carrier of Val122Ile mutation, the most common in population with African origin. 24111657

2013

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE Patients with ATTR V122I were identified in collaboration with the UK National Amyloidosis Centre. 22795285

2012

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE ATTR V122I and AL are equally prevalent as the cause of cardiomyopathy in African Americans referred for a diagnosis of amyloidosis. 19781421

2009

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE A high prevalence of some mutations like Val122Ile which is identified in 3% of African Americans indicates the necessity of thorough investigation of patients suspected of having, or to be at risk of developing, TTR amyloidosis. 12553428

2002

dbSNP: rs76992529
rs76992529
TTR
0.100 GeneticVariation BEFREE The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. 11752443

2001