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rs3743930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2.1 some reports of familial Mediterranean fever
(C;G) 1.5 weakly linked to familial mediterranean fever
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position3254626
GeneMEFV
is asnp
is mentioned by
dbSNPrs3743930
ebirs3743930
HLIrs3743930
Exacrs3743930
Varsomers3743930
Maprs3743930
PheGenIrs3743930
hapmaprs3743930
1000 genomesrs3743930
hgdprs3743930
ensemblrs3743930
gopubmedrs3743930
geneviewrs3743930
scholarrs3743930
googlers3743930
pharmgkbrs3743930
gwascentralrs3743930
openSNPrs3743930
23andMers3743930
23andMe allrs3743930
SNP Nexus

SNPshotrs3743930
SNPdbers3743930
MSV3drs3743930
GWAS Ctlgrs3743930
GMAF0.08219
Max Magnitude2.1
OMIM608107
DescFAMILIAL MEDITERRANEAN FEVER
Variant0005
Relatedalso
rs3743930, also known as E148Q, is a SNP in the MEFV gene.

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 rs3743930(C;C)
Alt rs3743930(C;C)
Reference rs3743930(G;G)
Significance Other
Disease Familial Mediterranean fever not specified
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever not specified
Reversed 1
HGVS NC_000016.9:g.3304626C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002651.6, RCV000218652.1,



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

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

[PMID 11484] On the latency and form of the membrane responses of smooth muscle to the iontophoretic application of acetylcholine or carbachol.

[PMID 10980540] MEFV mutations in Behcet's disease.

[PMID 11938447] The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

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

[PMID 16255051] MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.

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


GET Evidence
MEFV-E148Q
aa_change Glu148Gln
aa_change_short E148Q
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.0120929
summary Some reports believe this cause Familial Mediterranean Fever in a recessive manner with reduced penetrance (i.e. not all get the disease). However, these reports lack strong statistical significance; other studies argue the variant is not associated with the disease.



[PMID 27796522] The association between MEFV gene polymorphisms and Henoch-Schönlein purpura, and additional SNP-SNP interactions in Chinese Han children.