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rs104895081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a familial mediterranean fever mutation
Make rs104895081(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position3254268
GeneMEFV
is asnp
is mentioned by
dbSNPrs104895081
ebirs104895081
HLIrs104895081
Exacrs104895081
Varsomers104895081
Maprs104895081
PheGenIrs104895081
hapmaprs104895081
1000 genomesrs104895081
hgdprs104895081
ensemblrs104895081
gopubmedrs104895081
geneviewrs104895081
scholarrs104895081
googlers104895081
pharmgkbrs104895081
gwascentralrs104895081
openSNPrs104895081
23andMers104895081
23andMe allrs104895081
SNP Nexus

SNPshotrs104895081
SNPdbers104895081
MSV3drs104895081
GWAS Ctlgrs104895081
Max Magnitude3
OMIM608107
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104895081(T;T)
Alt rs104895081(T;T)
Reference rs104895081(C;C)
Significance Pathogenic
Disease Familial Mediterranean fever
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever
Reversed 1
HGVS NC_000016.9:g.3304268G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002653.3,


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