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 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

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE These observations indicate the same methionine for valine substitution at position 30 of the transthyretin molecule in patients with vitreous amyloidosis as seen in Swedish patients with FAP as well as in patients with FAP from Japan and Portugal, and patients of Swedish descent with FAP from the United States. 2897192

1988

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 Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. 8857732

1996

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE The first liver transplantation for hereditary TTR amyloidosis was performed in Sweden in 1990 on a patient with ATTR Val30Met amyloidosis, and the result was encouraging. 10827225

2000

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Familial amyloidotic polyneuropathy (FAP) type I, the most common dominantly inherited form of amyloidosis, is caused by a Val-to-Met point mutation at position 30 (Val(30)-->Met) in the protein transthyretin. 10973857

2000

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 Because leptomeningeal amyloidosis occurs in FAP ATTR Val30 Met as the progression of the disease, this information suggests that in addition to peripheral neuropathy, disorders of the central nervous system (CNS) should be given an attention in patients who underwent sequential liver transplantation using an explanted FAP ATTR Val30 Met patient's liver. 11477356

2001

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 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 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 Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant. 15804246

2005

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 Positive side effects, like improvement on orthostatic hypotension symptoms and well-being sensation, contributing to confirm erythropoietin as a drug of choice to treat anaemia in amyloidosis TTR V30M. 18925459

2008

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE The demonstration, in hereditary systemic transthyretin Val30Met amyloidosis, that such differences are consistently associated with amyloid fibrils composed of different length transthyretin fragments sheds new light on this question and will open the way to further informative studies. 19061244

2009

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms. 20132088

2010

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M. 21358362

2011

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 Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis. 23225390

2012

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 Predominant symptom presentation in patients with hereditary TTR amyloidosis differed according to the underlying disease-causing mutation (polyneuropathy for Val30Met, cardiomyopathy for Val122Ile and Leu111Met, and mixed for Glu89Gln). 23193944

2013

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 Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis. 25475560

2015

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE The type of amyloidosis was AL in 51 patients (55.4%), non-V30M mutant ATTR in 10 (10.9%), V30M mutant ATTR in 8 (8.7%), serum amyloid A-derived amyloidosis (AA) in 6 (6.5%), wild-type ATTR in 4 (4.3%), gelsolin in 3 (3.3%), and unclassified in 10 (10.9%). 25828388

2015

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