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rs28940578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3.5 familial Mediterranean fever
(A;G) 3 Carrier of a familial mediterranean fever mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome16
Position3243405
GeneMEFV
is asnp
is mentioned by
dbSNPrs28940578
ebirs28940578
HLIrs28940578
Exacrs28940578
Varsomers28940578
Maprs28940578
PheGenIrs28940578
hapmaprs28940578
1000 genomesrs28940578
hgdprs28940578
ensemblrs28940578
gopubmedrs28940578
geneviewrs28940578
scholarrs28940578
googlers28940578
pharmgkbrs28940578
gwascentralrs28940578
openSNPrs28940578
23andMers28940578
23andMe allrs28940578
SNP Nexus

SNPshotrs28940578
SNPdbers28940578
MSV3drs28940578
GWAS Ctlgrs28940578
Max Magnitude3.5
OMIM608107
DescFAMILIAL MEDITERRANEAN FEVER
Variant0002
Relatedalso
Neighborrs28940579
Distance95
Neighborrs28940577
Distance5
rs28940578, also known as c.2082G>A, p.Met694Ile or M694I, is a SNP in the MEFV gene. The risk allele is given as (T) by 23andMe, however in dbSNP orientation, the risk allele is (A).

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 rs28940578(A;A)
Alt rs28940578(A;A)
Reference rs28940578(G;G)
Significance Pathogenic
Disease Familial Mediterranean fever Familial mediterranean fever not provided
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever Familial mediterranean fever, autosomal dominant not provided
Reversed 1
HGVS NC_000016.9:g.3293405C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002648.2, RCV000002664.2, RCV000220431.1,



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

[PMID 17331] A rapid accurate assay for choline kinase.

[PMID 10090880OA-icon.png] 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.

[PMID 10364520OA-icon.png] 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.

[PMID 19967574] A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.

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

[PMID 20534143OA-icon.png] 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.