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rs28940579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3.5 familial Mediterranean fever
(C;T) 3 Carrier of a familial mediterranean fever mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome16
Position3243310
GeneMEFV
is asnp
is mentioned by
dbSNPrs28940579
ebirs28940579
HLIrs28940579
Exacrs28940579
Varsomers28940579
Maprs28940579
PheGenIrs28940579
hapmaprs28940579
1000 genomesrs28940579
hgdprs28940579
ensemblrs28940579
gopubmedrs28940579
geneviewrs28940579
scholarrs28940579
googlers28940579
pharmgkbrs28940579
gwascentralrs28940579
openSNPrs28940579
23andMers28940579
23andMe allrs28940579
SNP Nexus

SNPshotrs28940579
SNPdbers28940579
MSV3drs28940579
GWAS Ctlgrs28940579
GMAF0.0004591
Max Magnitude3.5
OMIM608107
DescFAMILIAL MEDITERRANEAN FEVER
Variant0003
Relatedalso
Neighborrs28940578
Distance95
rs28940579, also known as c.2177T>C, p.Val726Ala or V726A, is a SNP in the MEFV gene. The risk allele is given as (G) by 23andMe, however in dbSNP orientation, the risk allele is (C).

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.


ClinVar
Risk rs28940579(A,C;A,C)
Alt rs28940579(A,C;A,C)
Reference rs28940579(T;T)
Significance Pathogenic
Disease Familial Mediterranean fever not provided
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever not provided
Reversed 1
HGVS NC_000016.9:g.3293310A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002649.2, RCV000220654.1,



[PMID 19784369OA-icon.png] Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.


[PMID 12401] [X-ray assessment of the motor-evacuatory function of the gastrointestinal tract in the diagnosis of the dumping-syndrome].


[PMID 10024914] Pyrin/marenostrin mutations in familial Mediterranean fever.


[PMID 10737995] The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?


[PMID 11017802OA-icon.png] Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.


[PMID 12929299] Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.


[PMID 20041150OA-icon.png] Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.