Rs104895094

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of possible familial mediterranean fever allele
Make rs104895094(G;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position3243403
GeneMEFV
is asnp
is mentioned by
dbSNPrs104895094
Exacrs104895094
PheGenIrs104895094
nextbiors104895094
hapmaprs104895094
1000 genomesrs104895094
hgdprs104895094
ensemblrs104895094
gopubmedrs104895094
geneviewrs104895094
scholarrs104895094
googlers104895094
pharmgkbrs104895094
gwascentralrs104895094
openSNPrs104895094
23andMers104895094
23andMe allrs104895094
SNP Nexus

SNPshotrs104895094
SNPdbers104895094
MSV3drs104895094
GMAF0.003214

rs104895094, also known as K695R, is a SNP in the MEFV gene. The risk allele is given as (C) by 23andMe, however in dbSNP orientation, the risk allele is (G).

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
Variant0010
Relatedalso
ClinVar
Risk rs104895094(C,G,T;C,G,T)
Alt rs104895094(C,G,T;C,G,T)
Reference rs104895094(A;A)
Significance Pathogenic
Disease Familial Mediterranean fever Familial mediterranean fever
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever Familial mediterranean fever, autosomal dominant
Reversed 1
HGVS NC_000016.10:g.3243403T>A; NC_000016.10:g.3243403T>C
CLNSRC ClinVar Unité médicale des maladies autoinflammatoires LabCorp OMIM Allelic Variant
CLNACC RCV000083741.1, RCV000002656.2, RCV000030180.1,


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