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rs179363882

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs179363882(A;G)
Make rs179363882(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position44286678
GeneAIRE
is asnp
is mentioned by
dbSNPrs179363882
dbSNP (classic)rs179363882
ClinGenrs179363882
ebirs179363882
HLIrs179363882
Exacrs179363882
Gnomadrs179363882
Varsomers179363882
LitVarrs179363882
Maprs179363882
PheGenIrs179363882
Biobankrs179363882
1000 genomesrs179363882
hgdprs179363882
ensemblrs179363882
geneviewrs179363882
scholarrs179363882
googlers179363882
pharmgkbrs179363882
gwascentralrs179363882
openSNPrs179363882
23andMers179363882
SNPshotrs179363882
SNPdbers179363882
MSV3drs179363882
GWAS Ctlgrs179363882
Max Magnitude0
ClinVar
Risk rs179363882(G;G)
Alt rs179363882(G;G)
Reference Rs179363882(A;A)
Significance Pathogenic
Disease not provided Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN not provided Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45706561A>G
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059056.1, RCV000175592.1,