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rs11466024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1 benign
(A;G) 1 benign
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position3249468
GeneMEFV
is asnp
is mentioned by
dbSNPrs11466024
dbSNP (old)rs11466024
ClinGenrs11466024
ebirs11466024
HLIrs11466024
Exacrs11466024
Gnomadrs11466024
Varsomers11466024
Maprs11466024
PheGenIrs11466024
Biobankrs11466024
1000 genomesrs11466024
hgdprs11466024
ensemblrs11466024
gopubmedrs11466024
geneviewrs11466024
scholarrs11466024
googlers11466024
pharmgkbrs11466024
gwascentralrs11466024
openSNPrs11466024
23andMers11466024
23andMe allrs11466024
SNP Nexus

SNPshotrs11466024
SNPdbers11466024
MSV3drs11466024
GWAS Ctlgrs11466024
GMAF0.01653
Max Magnitude1
? (A;A) (A;G) (G;G) 28
OMIM608107
DescFAMILIAL MEDITERRANEAN FEVER
Variant0015
Relatedalso
Neighborrs11466023
Distance118


ClinVar
Risk Rs11466024(A;A)
Alt Rs11466024(A;A)
Reference Rs11466024(G;G)
Significance Other
Disease Familial Mediterranean fever not specified not provided
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever not specified not provided
Reversed 1
HGVS NC_000016.9:g.3299468C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002661.6, RCV000218029.4, RCV000224408.1,



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


GET Evidence
MEFV-R408Q
aa_change Arg408Gln
aa_change_short R408Q
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.00501952
summary This variant is associated with Familial Mediterranean Fever, it has generally been reported in cis with other variants. Sugiura et al. conclude that this variant may be weakly involved with the disease.