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rs386833674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833674(A;A)
Make rs386833674(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44291147
GeneAIRE
is asnp
is mentioned by
dbSNPrs386833674
ebirs386833674
HLIrs386833674
Exacrs386833674
Varsomers386833674
Maprs386833674
PheGenIrs386833674
hapmaprs386833674
1000 genomesrs386833674
hgdprs386833674
ensemblrs386833674
gopubmedrs386833674
geneviewrs386833674
scholarrs386833674
googlers386833674
pharmgkbrs386833674
gwascentralrs386833674
openSNPrs386833674
23andMers386833674
23andMe allrs386833674
SNP Nexus

SNPshotrs386833674
SNPdbers386833674
MSV3drs386833674
GWAS Ctlgrs386833674
Max Magnitude0
ClinVar
Risk rs386833674(A;A)
Alt rs386833674(A;A)
Reference rs386833674(G;G)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45711030G>A
CLNSRC ClinVar
CLNACC RCV000049634.1,


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