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rs11466023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1.7 carrier of a variant related to a mild form of familial Mediterranean fever
(T;T) 2 mild familial Mediterranean fever
ReferenceGRCh38 38.1/141
Chromosome16
Position3249586
GeneMEFV
is asnp
is mentioned by
dbSNPrs11466023
ebirs11466023
HLIrs11466023
Exacrs11466023
Varsomers11466023
Maprs11466023
PheGenIrs11466023
hapmaprs11466023
1000 genomesrs11466023
hgdprs11466023
ensemblrs11466023
gopubmedrs11466023
geneviewrs11466023
scholarrs11466023
googlers11466023
pharmgkbrs11466023
gwascentralrs11466023
openSNPrs11466023
23andMers11466023
23andMe allrs11466023
SNP Nexus

SNPshotrs11466023
SNPdbers11466023
MSV3drs11466023
GWAS Ctlgrs11466023
GMAF0.02066
Max Magnitude2
? (C;C) (C;T) (T;T) 28
OMIM608107
DescFAMILIAL MEDITERRANEAN FEVER
Variant0014
Relatedalso
Neighborrs11466024
Distance118
rs11466023, also known as c.1105C>T, p.Pro369Ser or P369S, is a SNP in the MEFV gene. The risk allele is given as (A) by 23andMe, however in dbSNP orientation, the risk allele is (T).

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 rs11466023(A,T;A,T)
Alt rs11466023(A,T;A,T)
Reference rs11466023(C;C)
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.3299586G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002660.6, RCV000215679.1,



[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 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 18097735] Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations.


[PMID 19934105OA-icon.png] Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.


GET Evidence
MEFV-P369S
aa_change Pro369Ser
aa_change_short P369S
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.00511247
summary Weak evidence associating this with familial mediterranean fever, but there is a fairly high frequency of this allele. This variant might cause increased susceptibility to the disease but there is not enough evidence to be significant.