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rs1057517011

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517011(-;-)
Make rs1057517011(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44291192
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057517011
dbSNP (old)rs1057517011
ClinGenrs1057517011
ebirs1057517011
HLIrs1057517011
Exacrs1057517011
Gnomadrs1057517011
Varsomers1057517011
Maprs1057517011
PheGenIrs1057517011
Biobankrs1057517011
1000 genomesrs1057517011
hgdprs1057517011
ensemblrs1057517011
gopubmedrs1057517011
geneviewrs1057517011
scholarrs1057517011
googlers1057517011
pharmgkbrs1057517011
gwascentralrs1057517011
openSNPrs1057517011
23andMers1057517011
23andMe allrs1057517011
SNPshotrs1057517011
SNPdbers1057517011
MSV3drs1057517011
GWAS Ctlgrs1057517011
Max Magnitude0
ClinVar
Risk rs1057517011(-;-)
Alt rs1057517011(-;-)
Reference Rs1057517011(C;C)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45711075delC
CLNSRC
CLNACC RCV000411502.1,