Gene: MEFV ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 GeneticVariation CLINVAR Evidence of digenic inheritance in autoinflammation-associated genes. 27994174

2016
dbSNP: rs28940579
rs28940579
MEFV
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
MEFV
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
MEFV
G 0.900 GeneticVariation CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764

2015
dbSNP: rs28940578
rs28940578
MEFV
T 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: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 CausalMutation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 GeneticVariation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014
dbSNP: rs61752717
rs61752717
MEFV
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
MEFV
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
MEFV
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
MEFV
C 0.900 CausalMutation CLINVAR Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. 24123366

2014
dbSNP: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant. 23334425

2013
dbSNP: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. 22037353

2012
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 CausalMutation CLINVAR 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. 21995303

2012
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR Here, we report the different clinical courses of FMF in a family carrying the same M694V mutation. 22790142

2012
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. 21995303

2012
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. 22037353

2012
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 CausalMutation CLINVAR Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice. 21600797

2011
dbSNP: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR Disappearance of attacks with one dose of colchicine (1 mg/day) strengthened the presumptive diagnosis of atypical FMF, which was further confirmed by genetic testing identifying the homozygous mutation M694I/M694I of the MEFV gene. 20051664

2010
dbSNP: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients. 21290976

2010
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients. 21290976

2010
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation. 20008920

2010
dbSNP: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. 19863562

2009