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rs104895093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5 Familial Mediterranean Fever
(-;AAT) 3 Carrier of a familial mediterranean fever mutation
(AAT;AAT) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3243409
GeneMEFV
is asnp
is mentioned by
dbSNPrs104895093
ebirs104895093
HLIrs104895093
Exacrs104895093
Varsomers104895093
Maprs104895093
PheGenIrs104895093
hapmaprs104895093
1000 genomesrs104895093
hgdprs104895093
ensemblrs104895093
gopubmedrs104895093
geneviewrs104895093
scholarrs104895093
googlers104895093
pharmgkbrs104895093
gwascentralrs104895093
openSNPrs104895093
23andMers104895093
23andMe allrs104895093
SNP Nexus

SNPshotrs104895093
SNPdbers104895093
MSV3drs104895093
GWAS Ctlgrs104895093
Max Magnitude5

rs104895093, also known as c.2076_2078delAAT, is a SNP in the MEFV gene.

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.

ClinVar
Risk rs104895093(;)
Alt rs104895093(;)
Reference rs104895093(AAT;AAT)
Significance Pathogenic
Disease Familial Mediterranean fever
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever
Reversed 1
HGVS NC_000016.9:g.3293409_3293411delATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000083737.3,