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rs386833675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGTCCCCTCCGC;CTGTCCCCTCCGC) 0 common in clinvar
(GCCTGTCCCCTCC;GCCTGTCCCCTCC) 0 common in clinvar
Make rs386833675(-;-)
Make rs386833675(-;CTGTCCCCTCCGC)
ReferenceGRCh38 38.1/141
Chromosome21
Position44291182
GeneAIRE
is asnp
is mentioned by
dbSNPrs386833675
ebirs386833675
HLIrs386833675
Exacrs386833675
Varsomers386833675
Maprs386833675
PheGenIrs386833675
hapmaprs386833675
1000 genomesrs386833675
hgdprs386833675
ensemblrs386833675
gopubmedrs386833675
geneviewrs386833675
scholarrs386833675
googlers386833675
pharmgkbrs386833675
gwascentralrs386833675
openSNPrs386833675
23andMers386833675
23andMe allrs386833675
SNP Nexus

SNPshotrs386833675
SNPdbers386833675
MSV3drs386833675
GWAS Ctlgrs386833675
Max Magnitude0
ClinVar
Risk rs386833675(;)
Alt rs386833675(;)
Reference rs386833675(GCCTGTCCCCTCC;GCCTGTCCCCTCC)
Significance Other
Disease Autoimmune polyglandular syndrome type 1 Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45711065_45711077delCTGTCCCCTCCGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003473.2, RCV000049635.3,


[PMID 10677297OA-icon.png] Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.