Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE • Late-onset FMF approaches 30% in late adulthood, but in general, onset of FMF after the age of 40 (late onset FMF) is rare, usually associated with M694V heterozygosity. 31401792

2020

dbSNP: rs28940579
rs28940579
0.900 GeneticVariation BEFREE FMF-knockin (FMF-KI) mice that express chimeric pyrin protein with FMF mutation (MefvV726A/V726A) exhibit an autoinflammatory disorder mediated by autoactivation of the pyrin inflammasome. 30457980

2019

dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE The most common mutations in children with FMF in Turkey were M694V and R202Q. 30284126

2019

dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE Among the genotypes tested, homozygosity to the M</span>694V MEFV mutation was found to be associated with the most grievous phenotype in the clinical spectrum of FMF. 30171907

2019

dbSNP: rs28940579
rs28940579
0.900 GeneticVariation BEFREE Our data suggest that M694V/V726A pyrin inflammasome mutations leading to FMF disease may contribute to gender-specific differences in microbial community structure in FMF patients. 29997616

2018

dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE The most common MEFV (MEditerranean FeVer) mutation was M694V in FMF patients. 28980897

2018

dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE Our data suggest that M694V/V726A pyrin inflammasome mutations leading to FMF disease may contribute to gender-specific differences in microbial community structure in FMF patients. 29997616

2018

dbSNP: rs28940578
rs28940578
0.900 GeneticVariation BEFREE This study shows that p.M694I homozygosity is a potential genetic risk factor for the development of renal AA-amyloidosis in Algerian FMF patients. 27956278

2017

dbSNP: rs28940579
rs28940579
0.900 GeneticVariation BEFREE In contrast, patients having E148Q or V726A mutant allele showed fewer clinical FMF symptoms. 28483595

2017

dbSNP: rs28940579
rs28940579
0.900 GeneticVariation BEFREE A FMF-knock-in mouse strain that expresses chimeric pyrin protein with a V726A mutation (Mefv<sup>V726A/V726A</sup>) was generated to model human FMF. 27998728

2017

dbSNP: rs61752717
rs61752717
0.900 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
0.900 GeneticVariation BEFREE THP-1 monocytes expressing PAAND pyrin mutations demonstrated spontaneous caspase-1-dependent IL-1β and IL-18 secretion, as well as cell death, which were significantly greater than those of wild-type and the FMF-associated mutation p.M694V. 28835462

2017

dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE Genetic testing revealed an apparent homozygote p.S734L LPIN2 mutation in two siblings, a heterozygote p.M694V MEFV mutation in one patient with familial Mediterranean fever and heterozygote p.Q219H PSTPIPI variant of unknown significance in one patient. 27860302

2017

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

2017

dbSNP: rs28940578
rs28940578
0.900 GeneticVariation BEFREE Patients with a sure FMF</span> phenotype had a higher frequency of MEFV exon 10 mutation (M694I) and a lower frequency of MEFV exon 3 mutations (P369S, R408Q) compared with those with a probable FMF phenotype. 27473114

2016

dbSNP: rs28940579
rs28940579
G 0.900 GeneticVariation CLINVAR Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. 27659338

2016

dbSNP: rs28940579
rs28940579
G 0.900 GeneticVariation CLINVAR Evidence of digenic inheritance in autoinflammation-associated genes. 27994174

2016

dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE These results indicate that the presence of homozygous M694V gene mutation seems to increase the risk for periodontitis in FMF patients. 26400644

2016

dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE The FMF phenotype is known to be more severe in patients carrying the p.M694V mutation. 27333294

2016

dbSNP: rs28940578
rs28940578
0.900 GeneticVariation UNIPROT Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 25628446

2015

dbSNP: rs28940579
rs28940579
G 0.900 GeneticVariation CLINVAR Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population. 26690517

2015

dbSNP: rs28940579
rs28940579
0.900 GeneticVariation UNIPROT Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 25628446

2015

dbSNP: rs28940579
rs28940579
G 0.900 GeneticVariation CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764

2015

dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE We report on a familial Mediterranean fever (FMF) patient homozygous for p.M694V in the MEFV gene who developed chronic myelomonocytic leukemia (CMML) leading to an uncontrolled and fatal inflammatory syndrome. 26076658

2015

dbSNP: rs61752717
rs61752717
0.900 GeneticVariation BEFREE Consistently, THP-1 cells transfected with FMF-associated M694V mutant pyrin displayed lower LPS/ATP-induced IL-1β compared with wild-type pyrin-transfected cells. 26074413

2015