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rs1057516411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs1057516411(-;-)
Make rs1057516411(-;GG)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44293013
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057516411
dbSNP (old)rs1057516411
ClinGenrs1057516411
ebirs1057516411
HLIrs1057516411
Exacrs1057516411
Gnomadrs1057516411
Varsomers1057516411
LitVarrs1057516411
Maprs1057516411
PheGenIrs1057516411
Biobankrs1057516411
1000 genomesrs1057516411
hgdprs1057516411
ensemblrs1057516411
gopubmedrs1057516411
geneviewrs1057516411
scholarrs1057516411
googlers1057516411
pharmgkbrs1057516411
gwascentralrs1057516411
openSNPrs1057516411
23andMers1057516411
23andMe allrs1057516411
SNPshotrs1057516411
SNPdbers1057516411
MSV3drs1057516411
GWAS Ctlgrs1057516411
Max Magnitude0
ClinVar
Risk rs1057516411(-;-)
Alt rs1057516411(-;-)
Reference Rs1057516411(GG;GG)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45712896_45712897delGG
CLNSRC
CLNACC RCV000410757.1,