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rs1057516811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516811(-;T)
Make rs1057516811(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44296447
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057516811
dbSNP (old)rs1057516811
ClinGenrs1057516811
ebirs1057516811
HLIrs1057516811
Exacrs1057516811
Gnomadrs1057516811
Varsomers1057516811
Maprs1057516811
PheGenIrs1057516811
Biobankrs1057516811
1000 genomesrs1057516811
hgdprs1057516811
ensemblrs1057516811
gopubmedrs1057516811
geneviewrs1057516811
scholarrs1057516811
googlers1057516811
pharmgkbrs1057516811
gwascentralrs1057516811
openSNPrs1057516811
23andMers1057516811
23andMe allrs1057516811
SNPshotrs1057516811
SNPdbers1057516811
MSV3drs1057516811
GWAS Ctlgrs1057516811
Max Magnitude0
ClinVar
Risk rs1057516811(T;T)
Alt rs1057516811(T;T)
Reference Rs1057516811(-;-)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45716330dupT
CLNSRC
CLNACC RCV000409364.1,