Rs104895079

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895079(C;C)
Make rs104895079(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position3254567
GeneMEFV
is asnp
is mentioned by
dbSNPrs104895079
PheGenIrs104895079
nextbiors104895079
hapmaprs104895079
1000 genomesrs104895079
hgdprs104895079
ensemblrs104895079
gopubmedrs104895079
geneviewrs104895079
scholarrs104895079
googlers104895079
pharmgkbrs104895079
gwascentralrs104895079
openSNPrs104895079
23andMers104895079
23andMe allrs104895079
SNP Nexus

SNPshotrs104895079
SNPdbers104895079
MSV3drs104895079
Max Magnitude0
OMIM608107
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104895079(C;C)
Alt rs104895079(C;C)
Reference rs104895079(G;G)
Significance Pathogenic
Disease Familial Mediterranean fever
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever
Reversed 1
HGVS NC_000016.9:g.3304567C>G
CLNSRC OMIM Allelic Variant Unité médicale des maladies autoinflammatoires
CLNACC RCV000002652.1,


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