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rs1057517254

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517254(-;-)
Make rs1057517254(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44292390
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057517254
dbSNP (old)rs1057517254
ClinGenrs1057517254
ebirs1057517254
HLIrs1057517254
Exacrs1057517254
Gnomadrs1057517254
Varsomers1057517254
Maprs1057517254
PheGenIrs1057517254
Biobankrs1057517254
1000 genomesrs1057517254
hgdprs1057517254
ensemblrs1057517254
gopubmedrs1057517254
geneviewrs1057517254
scholarrs1057517254
googlers1057517254
pharmgkbrs1057517254
gwascentralrs1057517254
openSNPrs1057517254
23andMers1057517254
23andMe allrs1057517254
SNPshotrs1057517254
SNPdbers1057517254
MSV3drs1057517254
GWAS Ctlgrs1057517254
Max Magnitude0
ClinVar
Risk rs1057517254(-;-)
Alt rs1057517254(-;-)
Reference Rs1057517254(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.45712273delG
CLNSRC
CLNACC RCV000410507.1,