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rs1057516272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516272(G;T)
Make rs1057516272(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44286581
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057516272
dbSNP (old)rs1057516272
ClinGenrs1057516272
ebirs1057516272
HLIrs1057516272
Exacrs1057516272
Gnomadrs1057516272
Varsomers1057516272
Maprs1057516272
PheGenIrs1057516272
Biobankrs1057516272
1000 genomesrs1057516272
hgdprs1057516272
ensemblrs1057516272
gopubmedrs1057516272
geneviewrs1057516272
scholarrs1057516272
googlers1057516272
pharmgkbrs1057516272
gwascentralrs1057516272
openSNPrs1057516272
23andMers1057516272
23andMe allrs1057516272
SNPshotrs1057516272
SNPdbers1057516272
MSV3drs1057516272
GWAS Ctlgrs1057516272
Max Magnitude0
ClinVar
Risk rs1057516272(T;T)
Alt rs1057516272(T;T)
Reference Rs1057516272(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.45706464G>T
CLNSRC
CLNACC RCV000411673.1,