Rs104895076

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Orientationminus
is asnp
is mentioned by
dbSNPrs104895076
PheGenIrs104895076
nextbiors104895076
hapmaprs104895076
1000 genomesrs104895076
hgdprs104895076
ensemblrs104895076
gopubmedrs104895076
geneviewrs104895076
scholarrs104895076
googlers104895076
pharmgkbrs104895076
gwascentralrs104895076
openSNPrs104895076
23andMers104895076
23andMe allrs104895076
SNP Nexus

SNPshotrs104895076
SNPdbers104895076
MSV3drs104895076
GeneMEFV
Chromosome16
Orientationminus
Position3254625
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104895076(A;T)
Make rs104895076(T;T)
OMIM608107
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104895076(T;T)
Alt rs104895076(T;T)
Reference rs104895076(A;A)
Significance 255
Disease Familial Mediterranean fever
ClinVar info
Gene MEFV
CLNDBN Familial Mediterranean fever
Reversed 1
CLNHGVS NC_000016.9:g.3304625T>A
CLNSRC OMIM Allelic Variant, Unité médicale des maladies autoinflammatoires
CLNACC RCV000002663.2


[PMID 15475] [Study of a new anesthetic agent: Etomidate (R 26490). Unusual electroencephalic aspects].


[PMID 14578331] Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.


[PMID 15643295] Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.


[PMID 15951859] Genetic screening of familial Mediterranean fever mutations in the Palestinian population.


[PMID 16378925] Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.


[PMID 17489852] MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.