Rs104895083

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

SNPshotrs104895083
SNPdbers104895083
MSV3drs104895083
Max Magnitude0
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_000016.9:g.3297166G>C
CLNSRC OMIM Allelic Variant Unité médicale des maladies autoinflammatoires
CLNACC RCV000002654.1,


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