Gene: MEFV ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11466023
rs11466023
MEFV
A 0.860 CausalMutation CLINVAR P369S/R408Q substitutions are associated with a highly variable phenotype, and are infrequently associated with typical FMF symptoms, however a trial of colchicine is warranted in all. 19934105

2010
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 CausalMutation CLINVAR 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. 20534143

2010
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 CausalMutation CLINVAR PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience. 25793047

2014
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 CausalMutation 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 CausalMutation 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: 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 CausalMutation CLINVAR MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study. 19934083

2010
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Revisiting the morbid genome of Mendelian disorders. 27884173

2016
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 CausalMutation 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 MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study. 19934083

2010
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum. 20008924

2010
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 CausalMutation CLINVAR In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q. 25648235

2015
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 CausalMutation CLINVAR Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. 10090880

1999
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. 19863562

2009
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 Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. 22019805

2011
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 CausalMutation CLINVAR Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. 14578331

2003
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 CausalMutation 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 Guidelines for the genetic diagnosis of hereditary recurrent fevers. 22661645

2012
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 CausalMutation CLINVAR MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. 19449169

2010
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 CausalMutation CLINVAR Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever. 21598806

2011
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever. 28590056

2017