Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Amyloidosis was confirmed by renal biopsy in only two of these cases who were homozygous for M694V and compound heterozygous for M694V/M680I. 28828621

2018

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis. 27791951

2017

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE This study did not link the M694V/M694V genotype to the renal complication despite the fact that it has been observed only in the patients with amyloidosis (3/27; 11%) (p = 0.349). 27956278

2017

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Furthermore, the MEFV gene-mediated inflammatory pathway increased serum acute phase reactants, and the changes in the R202Q and M694V could play a role in inflammatory-genetic diseases, such as FMF, FMF-associated amyloidosis and chronic periodontitis. 28590056

2017

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Two patients with amyloidosis had the M694V homozygote genotype. 24071932

2014

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Patients with FMF amyloidosis carried only M694V mutations in the FMF gene, while FMF without amyloidosis featured other mutations as well. 22675837

2012

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE M694V gene mutation may be associated with increased frequency of abdominal pain, arthritis and the presence of amyloidosis. 19777236

2010

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Therefore, patients homozygous for M694V/M694V may be carrying an increased risk for development of amyloidosis. 20008920

2010

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE M694V was observed in severe disease and in patients with amyloidosis. 20151816

2010

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE So that we aimed in this study to investigate whether FMF patients with/without amyloidosis and with M694V homozygote mutation, have increased risk for atherosclerotic cardiovascular complications and to determine the strength of association between MEFV gene-mutation types. 19033264

2009

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Our data, combined with previous studies, show that patients having M694V/M694V carry a risk for amyloidosis. 18061974

2008

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE In conclusion, we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers. 18266121

2008

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE The severity of the disease and development of amyloidosis seem to have an association with M694V, the most common mutation in Syrian FMF patients. 16627024

2007

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Earlier age at onset, increased frequency of attacks, arthritis attacks, erysipelas-like erythema, increased severity scores and amyloidosis were significantly more common in M694V homozygous patients compared to the patients not M694V homozygous (P = 0.005, OR 4.55; P = 0.001, OR 7.60; P = 0.003, OR 4.57; P = 0.002, OR 7.58; P = 0.004, OR 5.15 and P = 0.018, OR 3.33, respectively). 17102945

2007

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE M694V homozygocity, male gender and the alpha/alpha genotype of serum amyloid A1 gene are the currently established risk factors for development of amyloidosis. 16283319

2006

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE They also show that M694V is the most common mutation in Arab patients with FMF and seems to have an association with the development of amyloidosis and the PFMS. 15942916

2005

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Positive family history for amyloidosis and presence of SAA1 alpha/alpha genotype in M694V/M694V mutation may predispose to amyloidosis by increasing the clinical severity. 16118480

2005

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE In both cases, S1791 was in compound heterozygosity with MEFV mutation M694V, and the characteristic clinical syndrome of FMF including amyloidosis was found. 14636645

2004

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group. 15018633

2004

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group. 15122067

2004

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation. 12563686

2003

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Initial studies have suggested that the presence of the Met694Val mutation carry a significant risk for the development of amyloidosis. 11139244

2001

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I). 11175300

2001

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE The presence of the Met694Val mutation was not found to be associated with a severe form of the disease or the development of amyloidosis. 10662876

2000

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE In the light of the high frequency of amyloidosis in homozygotes for the mutation M694V, colchicine treatment should be given to this group irrespective of the severity of the inflammatory attacks to prevent the development of amyloidosis. 10799634

2000