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rs61732874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 familial mediterranean fever
(A;C) 3 Carrier of a familial mediterranean fever mutation
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position3243257
GeneMEFV
is asnp
is mentioned by
dbSNPrs61732874
ebirs61732874
HLIrs61732874
Exacrs61732874
Varsomers61732874
Maprs61732874
PheGenIrs61732874
hapmaprs61732874
1000 genomesrs61732874
hgdprs61732874
ensemblrs61732874
gopubmedrs61732874
geneviewrs61732874
scholarrs61732874
googlers61732874
pharmgkbrs61732874
gwascentralrs61732874
openSNPrs61732874
23andMers61732874
23andMe allrs61732874
SNP Nexus

SNPshotrs61732874
SNPdbers61732874
MSV3drs61732874
GWAS Ctlgrs61732874
GMAF0.001377
Max Magnitude5

rs61732874, also known as c.2230G>T, p.Ala744Ser or A744S, is a SNP in the MEFV gene. The equivalent SNP for 23andMe is i4000409.

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.

OMIM608107
Desc
Variant0011
Relatedalso


ClinVar
Risk rs61732874(A;A)
Alt rs61732874(A;A)
Reference rs61732874(C;C)
Significance Other
Disease Familial Mediterranean fever not provided
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever not provided
Reversed 0
HGVS NC_000016.9:g.3293257C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002657.6, RCV000196026.1, RCV000213702.1,



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


[PMID 9668175] Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).


[PMID 166149] Possible intervention of insulin, cyclic AMP, and glucocorticoids in protein-sparing action of dietary carbohydrate in rats.


[PMID 14578331] Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.


[PMID 16439335] Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.


[PMID 17566872] MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center.