Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
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: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE Among the genotypes tested, homozygosity to the M694V MEFV mutation was found to be associated with the most grievous phenotype in the clinical spectrum of FMF. 30171907

2019

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE The most common mutations in children with FMF in Turkey were M694V and R202Q. 30284126

2019

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE The most common MEFV (MEditerranean FeVer) mutation was M694V in FMF patients. 28980897

2018

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis. 27791951

2017

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE The FMF phenotype is known to be more severe in patients carrying the p.M694V mutation. 27333294

2016

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation UNIPROT Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 25628446

2015

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE In order to determine the association between M694V and clinical features of FMF, we compared the disease features between patients with and without this mutation. 25150514

2015

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE Forty-seven genetic-negative, 60 genetically heterogeneous and 57 p.M694V homozygous FMF patients were enrolled to the study. 25887307

2015

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
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

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
C 0.900 CausalMutation CLINVAR FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations. 24318677

2014

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
C 0.900 GeneticVariation CLINVAR FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations. 24318677

2014

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
C 0.900 CausalMutation CLINVAR Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. 24123366

2014

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
C 0.900 CausalMutation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region. 24071932

2014

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations. 24318677

2014

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation UNIPROT Evidence-based recommendations for the practical management of Familial Mediterranean Fever. 23742958

2013

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
C 0.900 CausalMutation CLINVAR Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant. 23334425

2013

dbSNP: rs61752717
rs61752717
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 GeneticVariation BEFREE All 12 common mutations in the MEFV gene were analyzed and the M694V variant was found to be associated with an adverse FMF clinical outcome in the Armenian-American population, manifested by earlier onset of disease, increased severity of disease, and renal amyloidosis. 23038988

2013