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rs386833672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833672(-;-)
Make rs386833672(-;A)
Make rs386833672(A;A)
ReferenceGRCh38 38.1/141
Chromosome21
Position44293060
GeneAIRE
is asnp
is mentioned by
dbSNPrs386833672
ebirs386833672
HLIrs386833672
Exacrs386833672
Varsomers386833672
Maprs386833672
PheGenIrs386833672
hapmaprs386833672
1000 genomesrs386833672
hgdprs386833672
ensemblrs386833672
gopubmedrs386833672
geneviewrs386833672
scholarrs386833672
googlers386833672
pharmgkbrs386833672
gwascentralrs386833672
openSNPrs386833672
23andMers386833672
23andMe allrs386833672
SNP Nexus

SNPshotrs386833672
SNPdbers386833672
MSV3drs386833672
GWAS Ctlgrs386833672
Max Magnitude0
ClinVar
Risk rs386833672(A;A)
Alt rs386833672(A;A)
Reference rs386833672(;)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45712943_45712944insA
CLNSRC ClinVar
CLNACC RCV000049632.1,


[PMID 9398840] An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.