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rs1057517428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517428(-;-)
Make rs1057517428(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44286684
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057517428
dbSNP (old)rs1057517428
ClinGenrs1057517428
ebirs1057517428
HLIrs1057517428
Exacrs1057517428
Gnomadrs1057517428
Varsomers1057517428
LitVarrs1057517428
Maprs1057517428
PheGenIrs1057517428
Biobankrs1057517428
1000 genomesrs1057517428
hgdprs1057517428
ensemblrs1057517428
gopubmedrs1057517428
geneviewrs1057517428
scholarrs1057517428
googlers1057517428
pharmgkbrs1057517428
gwascentralrs1057517428
openSNPrs1057517428
23andMers1057517428
23andMe allrs1057517428
SNPshotrs1057517428
SNPdbers1057517428
MSV3drs1057517428
GWAS Ctlgrs1057517428
Max Magnitude0
ClinVar
Risk rs1057517428(-;-)
Alt rs1057517428(-;-)
Reference Rs1057517428(T;T)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45706567delT
CLNSRC
CLNACC RCV000409889.1,