{{Rsnum
|rsid=11466024
|Gene=MEFV
|Chromosome=16
|position=3249468
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.01653
|Gene_s=MEFV
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.5 | 98.5
| HCB | 0.0 | 4.8 | 95.2
| JPT | 0.0 | 7.1 | 92.9
| YRI | 0.0 | 1.6 | 98.4
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 4.8 | 95.2
| 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=11466024
|variant=0015
}}
{{ neighbor
| rsid = 11466023
| distance = 118
}}

{{ClinVar
|rsid=11466024
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=3299468
|CHROM=16
|GMAF=0.0169
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050168000000150517110101
|GENEINFO=MEFV:4210
|GENE_NAME=MEFV
|GENE_ID=4210
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.3299468C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608107.0015
|CLNSIG=3
|CLNCUI=C0031069
|CLNDBN=Familial Mediterranean fever; Reclassified - variant of unknown significance
|Disease=Familial Mediterranean fever; Reclassified - variant of unknown significance
|CLNACC=RCV000002661.2; RCV000043559.1
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9835; 0.01653
|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=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=20534143
|Title=1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
|OA=1
}}

{{GET Evidence
|gene=MEFV
|aa_change=Arg408Gln
|aa_change_short=R408Q
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs11466024
|overall_frequency_n=54
|overall_frequency_d=10758
|overall_frequency=0.00501952
|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
|qualitycomment_familial=Y
|qualityscore_severity=3
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.993
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|max_or_disease_name=Familial Mediterranean Fever
|max_or_case_pos=1
|max_or_case_neg=2
|max_or_control_pos=55
|max_or_control_neg=459
|max_or_or=4.173
|autoscore=6
|webscore=N
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant is associated with Familial Mediterranean Fever, it has generally been reported in cis with other variants. Sugiura et al. conclude that this variant may be weakly involved with the disease.
}}

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