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rs1057516916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516916(-;-)
Make rs1057516916(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44293176
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057516916
dbSNP (old)rs1057516916
ClinGenrs1057516916
ebirs1057516916
HLIrs1057516916
Exacrs1057516916
Gnomadrs1057516916
Varsomers1057516916
LitVarrs1057516916
Maprs1057516916
PheGenIrs1057516916
Biobankrs1057516916
1000 genomesrs1057516916
hgdprs1057516916
ensemblrs1057516916
gopubmedrs1057516916
geneviewrs1057516916
scholarrs1057516916
googlers1057516916
pharmgkbrs1057516916
gwascentralrs1057516916
openSNPrs1057516916
23andMers1057516916
23andMe allrs1057516916
SNPshotrs1057516916
SNPdbers1057516916
MSV3drs1057516916
GWAS Ctlgrs1057516916
Max Magnitude0
ClinVar
Risk rs1057516916(-;-)
Alt rs1057516916(-;-)
Reference Rs1057516916(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.45713059delG
CLNSRC
CLNACC RCV000409227.1,