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rs387906294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906294(-;-)
Make rs387906294(-;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44296392
GeneAIRE
is asnp
is mentioned by
dbSNPrs387906294
ebirs387906294
HLIrs387906294
Exacrs387906294
Varsomers387906294
Maprs387906294
PheGenIrs387906294
hapmaprs387906294
1000 genomesrs387906294
hgdprs387906294
ensemblrs387906294
gopubmedrs387906294
geneviewrs387906294
scholarrs387906294
googlers387906294
pharmgkbrs387906294
gwascentralrs387906294
openSNPrs387906294
23andMers387906294
23andMe allrs387906294
SNP Nexus

SNPshotrs387906294
SNPdbers387906294
MSV3drs387906294
GWAS Ctlgrs387906294
Max Magnitude0
ClinVar
Risk rs387906294(;)
Alt rs387906294(;)
Reference rs387906294(G;G)
Significance Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45716275delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003476.4,