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rs387906295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906295(-;-)
Make rs387906295(-;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position44289793
GeneAIRE
is asnp
is mentioned by
dbSNPrs387906295
ebirs387906295
HLIrs387906295
Exacrs387906295
Varsomers387906295
Maprs387906295
PheGenIrs387906295
hapmaprs387906295
1000 genomesrs387906295
hgdprs387906295
ensemblrs387906295
gopubmedrs387906295
geneviewrs387906295
scholarrs387906295
googlers387906295
pharmgkbrs387906295
gwascentralrs387906295
openSNPrs387906295
23andMers387906295
23andMe allrs387906295
SNP Nexus

SNPshotrs387906295
SNPdbers387906295
MSV3drs387906295
GWAS Ctlgrs387906295
Max Magnitude0
ClinVar
Risk rs387906295(;)
Alt rs387906295(;)
Reference rs387906295(C;C)
Significance Pathogenic
Disease Autoimmune polyglandular syndrome type 1
Variation info
Gene AIRE
CLNDBN Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
Reversed 0
HGVS NC_000021.8:g.45709676delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003479.2,