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Rs104895083

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of familial mediterranean fever allele
Make rs104895083(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position3247166
GeneMEFV
is asnp
is mentioned by
dbSNPrs104895083
ebirs104895083
Exacrs104895083
PheGenIrs104895083
nextbiors104895083
hapmaprs104895083
1000 genomesrs104895083
hgdprs104895083
ensemblrs104895083
gopubmedrs104895083
geneviewrs104895083
scholarrs104895083
googlers104895083
pharmgkbrs104895083
gwascentralrs104895083
openSNPrs104895083
23andMers104895083
23andMe allrs104895083
SNP Nexus

SNPshotrs104895083
SNPdbers104895083
MSV3drs104895083
GWAS Ctlgrs104895083
Max Magnitude3

rs104895083, also known as F479L, is a SNP in the MEFV gene. The equivalent SNP for 23andMe is i4000403.

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
Variant0008
Relatedalso
ClinVar
Risk rs104895083(G;G)
Alt rs104895083(G;G)
Reference rs104895083(C;C)
Significance Pathogenic
Disease Familial Mediterranean fever
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever
Reversed 1
HGVS NC_000016.10:g.3247166G>C
CLNSRC ClinVar OMIM Allelic Variant Unité médicale des maladies autoinflammatoires
CLNACC RCV000002654.2,


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