{{Rsnum
|rsid=3743930
|Gene=MEFV
|Chromosome=16
|position=3254626
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.08219
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=MEFV
}}{{omim
|desc=FAMILIAL MEDITERRANEAN FEVER
|id=608107
|rsnum=3743930
|variant=0005
}}

The symptoms of [[familial Mediterranean fever]] are caused by the person's own inflammatory response; it is not an [[infectious disease]]. The condition is more common among [[Turks]], [[Sephardic Jews]], and people of [[Arab]] and [[Armenian]] ancestry.

23andMe tests for SNPs in the [[MEFV]] gene that are associated with a recessive form of [[familial Mediterranean fever]]:
* [[rs28940579]], also known as V726A (risk allele G)
* [[rs28940580]], also known as M680I C>G (risk allele G)
* [[rs28940578]], also known as M694I (risk allele T)
* [[rs3743930]], also known as E148Q (risk allele G)
* [[rs11466023]], also known as P369S (risk allele A)
* [[i4000406]], also known as M694V (risk allele C)
* [[i4000409]], also known as A744S (risk allele A)
* [[i4000403]], also known as F479L (risk allele C)
* [[i4000410]], also known as R761H (risk allele T)
* [[i4000407]], also known as K695R (risk allele C)

{{ClinVar
|rsid=3743930
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=3304626
|CHROM=16
|GMAF=0.0824
|dbSNPBuildID=107
|SSR=0
|SAO=1
|VP=0x050168000000150516110100
|GENEINFO=MEFV:4210
|GENE_NAME=MEFV
|GENE_ID=4210
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.3304626C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608107.0005; 608107.0018
|CLNSIG=255
|CLNCUI=C0031069
|CLNDBN=Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant
|Disease=Familial Mediterranean fever; Familial mediterranean fever
|CLNACC=RCV000002651.2; RCV000002664.1
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9178; 0.08219
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1227:C0031069:249100:342:12579009; C1851347:134610:342
|COMMON=1
}}

{{PMID|19784369|OA=1
}} Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.

{{PMID|20041150|OA=1
}} Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

{{PMID|11484}} On the latency and form of the membrane responses of smooth muscle to the iontophoretic application of acetylcholine or carbachol.

{{PMID|10980540}} MEFV mutations in Behcet's disease.

{{PMID|11938447}} The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

{{PMID|12929299}} Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.

{{PMID|16255051}} MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.

{{PMID|20041150|OA=1
}} Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

{{GET Evidence
|gene=MEFV
|aa_change=Glu148Gln
|aa_change_short=E148Q
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs3743930
|overall_frequency_n=127
|overall_frequency_d=10502
|overall_frequency=0.0120929
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=5
|n_articles_annotated=5
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=!
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=2
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.852
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|max_or_disease_name=Familial Mediterranean Fever
|max_or_case_pos=58
|max_or_case_neg=766
|max_or_control_pos=163
|max_or_control_neg=2639
|max_or_or=1.226
|autoscore=6
|webscore=N
|n_web_uneval=10
|variant_evidence=1
|clinical_importance=0
|summary_short=Some reports believe this cause Familial Mediterranean Fever in a recessive manner with reduced penetrance (i.e. not all get the disease). However, these reports lack strong statistical significance; other studies argue the variant is not associated with the disease.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}