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 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: rs28940579
rs28940579
MEFV
G 0.900 GeneticVariation CLINVAR The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. 16785446

2006
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 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: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey. 23031807

2012
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR Simple markers for subclinical inflammation in patients with Familial Mediterranean Fever. 25615955

2015
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center. 17566872

2008
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). 9668175

1998
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 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: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran. 27980538

2016
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764

2015
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis. 26351556

2015
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA. 23038988

2013
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC). 26843738

2015
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. 19449169

2010
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Renal amyloidosis due to familial mediterranean fever misdiagnosed. 23716950

2012
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey. 23031807

2012
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR "The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination ""hot-spot"" at the MEFV locus." 15024744

2004
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. 27659338

2016
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. 22019805

2011
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Guidelines for the genetic diagnosis of hereditary recurrent fevers. 22661645

2012