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rs1057516314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057516314(AG;C)
Make rs1057516314(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44287127
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057516314
dbSNP (old)rs1057516314
ClinGenrs1057516314
ebirs1057516314
HLIrs1057516314
Exacrs1057516314
Gnomadrs1057516314
Varsomers1057516314
LitVarrs1057516314
Maprs1057516314
PheGenIrs1057516314
Biobankrs1057516314
1000 genomesrs1057516314
hgdprs1057516314
ensemblrs1057516314
gopubmedrs1057516314
geneviewrs1057516314
scholarrs1057516314
googlers1057516314
pharmgkbrs1057516314
gwascentralrs1057516314
openSNPrs1057516314
23andMers1057516314
23andMe allrs1057516314
SNPshotrs1057516314
SNPdbers1057516314
MSV3drs1057516314
GWAS Ctlgrs1057516314
Max Magnitude0
ClinVar
Risk rs1057516314(C;C)
Alt rs1057516314(C;C)
Reference Rs1057516314(AG;AG)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45707010_45707011delAGinsC
CLNSRC
CLNACC RCV000409403.1,