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rs121907890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5 Familial Mediterranean Fever
(-;ATA) 3 carrier of a familial mediterranean fever allele
(AAT;AAT) 0 common in clinvar
(ATA;ATA) 0 common in complete genomics
(TAA;TAA) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position3243411
GeneMEFV
is asnp
is mentioned by
dbSNPrs121907890
ebirs121907890
HLIrs121907890
Exacrs121907890
Varsomers121907890
Maprs121907890
PheGenIrs121907890
hapmaprs121907890
1000 genomesrs121907890
hgdprs121907890
ensemblrs121907890
gopubmedrs121907890
geneviewrs121907890
scholarrs121907890
googlers121907890
pharmgkbrs121907890
gwascentralrs121907890
openSNPrs121907890
23andMers121907890
23andMe allrs121907890
SNP Nexus

SNPshotrs121907890
SNPdbers121907890
MSV3drs121907890
GWAS Ctlgrs121907890
Max Magnitude5

rs121907890, also known as c.2074_2076delATA, 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.

OMIM608107
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121907890(;)
Alt rs121907890(;)
Reference rs121907890(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,