Gene: MEFV ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895091
rs104895091
MEFV
T 0.700 CausalMutation CLINVAR Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration. 27150194

2017
dbSNP: rs104895091
rs104895091
MEFV
T 0.700 CausalMutation CLINVAR Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment. 25760918

2016
dbSNP: rs104895093
rs104895093
MEFV
C 0.700 GeneticVariation CLINVAR MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever. 25648235

2015
dbSNP: rs1355225244
rs1355225244
MEFV
C 0.700 GeneticVariation CLINVAR Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC). 26843738

2015
dbSNP: rs150819742
rs150819742
MEFV
T 0.700 CausalMutation CLINVAR Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease. 25286988

2015
dbSNP: rs150819742
rs150819742
MEFV
T 0.700 CausalMutation CLINVAR A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed. 26027984

2015
dbSNP: rs876660997
rs876660997
MEFV
CA 0.700 GeneticVariation CLINVAR Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC). 26843738

2015
dbSNP: rs104895093
rs104895093
MEFV
C 0.700 GeneticVariation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014
dbSNP: rs1057516210
rs1057516210
MEFV
T 0.700 CausalMutation CLINVAR MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease. 23505238

2014
dbSNP: rs1355225244
rs1355225244
MEFV
C 0.700 GeneticVariation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014
dbSNP: rs150819742
rs150819742
MEFV
T 0.700 CausalMutation CLINVAR Acute pericarditis as the first manifestation of familial Mediterranean fever: a possible relationship with idiopathic recurrent pericarditis. 25088882

2014
dbSNP: rs150819742
rs150819742
MEFV
T 0.700 CausalMutation CLINVAR Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients. 24797171

2014
dbSNP: rs150819742
rs150819742
MEFV
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. 25261100

2014
dbSNP: rs780770024
rs780770024
MEFV
A 0.700 GeneticVariation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014
dbSNP: rs876660997
rs876660997
MEFV
CA 0.700 GeneticVariation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014
dbSNP: rs1328913013
rs1328913013
MEFV
A 0.700 GeneticVariation CLINVAR Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever. 21562927

2012
dbSNP: rs780770024
rs780770024
MEFV
A 0.700 GeneticVariation CLINVAR Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. 22037353

2012
dbSNP: rs104895091
rs104895091
MEFV
T 0.700 CausalMutation CLINVAR Genetics of monogenic autoinflammatory diseases: past successes, future challenges. 21727933

2011
dbSNP: rs104895093
rs104895093
MEFV
C 0.700 GeneticVariation CLINVAR Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. 22019805

2011
dbSNP: rs747515115
rs747515115
MEFV
A 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs780770024
rs780770024
MEFV
A 0.700 GeneticVariation CLINVAR "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?" 21413889

2011
dbSNP: rs780770024
rs780770024
MEFV
A 0.700 GeneticVariation CLINVAR Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice. 21600797

2011
dbSNP: rs104895093
rs104895093
MEFV
C 0.700 GeneticVariation CLINVAR Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. 19253030

2010
dbSNP: rs104895093
rs104895093
MEFV
C 0.700 GeneticVariation CLINVAR MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations. 19777236

2010
dbSNP: rs780770024
rs780770024
MEFV
A 0.700 GeneticVariation CLINVAR Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients. 21290976

2010