{{Rsnum
|rsid=11466023
|Gene=MEFV
|Chromosome=16
|position=3249586
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.02066
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MEFV
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 98.4 | 1.6 | 0.0
| HCB | 90.2 | 9.8 | 0.0
| JPT | 90.5 | 9.5 | 0.0
| YRI | 98.4 | 1.6 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 90.2 | 9.8 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=FAMILIAL MEDITERRANEAN FEVER
|id=608107
|rsnum=11466023
|variant=0014
}}
{{ neighbor
| rsid = 11466024
| distance = 118
}}

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=11466023
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=3299586
|CHROM=16
|GMAF=0.0211
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050168000000140517110100
|GENEINFO=MEFV:4210
|GENE_NAME=MEFV
|GENE_ID=4210
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.3299586G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608107.0014
|CLNSIG=3
|CLNCUI=C0031069
|CLNDBN=Familial Mediterranean fever; Reclassified - variant of unknown significance
|Disease=Familial Mediterranean fever; Reclassified - variant of unknown significance
|CLNACC=RCV000002660.2; RCV000043558.1
|Tags=RV;PM;PMC;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9793; 0.02066
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1227:C0031069:249100:342:12579009
|COMMON=1
}}

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

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

{{PMID Auto
|PMID=10090880
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=10364520
|Title=MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
|OA=1
}}

{{PMID Auto
|PMID=18097735
|Title=Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations.
}}

{{PMID Auto
|PMID=19934105
|Title=Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.
|OA=1
}}

{{GET Evidence
|gene=MEFV
|aa_change=Pro369Ser
|aa_change_short=P369S
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs11466023
|overall_frequency_n=55
|overall_frequency_d=10758
|overall_frequency=0.00511247
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualityscore_severity=3
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.995
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|max_or_disease_name=Familial Mediterranean Fever
|max_or_case_pos=5
|max_or_case_neg=177
|max_or_control_pos=59
|max_or_control_neg=1187
|max_or_or=0.568
|autoscore=6
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=Weak evidence associating this with familial mediterranean fever, but there is a fairly high frequency of this allele. This variant might cause increased susceptibility to the disease but there is not enough evidence to be significant.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}