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rs11466026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11466026(C;G)
Make rs11466026(G;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position3248947
GeneMEFV
is asnp
is mentioned by
dbSNPrs11466026
ebirs11466026
HLIrs11466026
Exacrs11466026
Varsomers11466026
Maprs11466026
PheGenIrs11466026
hapmaprs11466026
1000 genomesrs11466026
hgdprs11466026
ensemblrs11466026
gopubmedrs11466026
geneviewrs11466026
scholarrs11466026
googlers11466026
pharmgkbrs11466026
gwascentralrs11466026
openSNPrs11466026
23andMers11466026
23andMe allrs11466026
SNP Nexus

SNPshotrs11466026
SNPdbers11466026
MSV3drs11466026
GWAS Ctlgrs11466026
GMAF0.003673
Max Magnitude0
? (C;C) (C;G) (G;G) 28
ClinVar
Risk rs11466026(G;G)
Alt rs11466026(G;G)
Reference rs11466026(C;C)
Significance Probable-Pathogenic
Disease Familial Mediterranean fever not specified
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever not specified
Reversed 1
HGVS NC_000016.9:g.3298947G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000030171.1, RCV000221686.1,



GET Evidence
MEFV-Q440E
aa_change Gln440Glu
aa_change_short Q440E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00362521
summary