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rs1057516225

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516225(A;A)
Make rs1057516225(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44286679
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057516225
dbSNP (old)rs1057516225
ClinGenrs1057516225
ebirs1057516225
HLIrs1057516225
Exacrs1057516225
Gnomadrs1057516225
Varsomers1057516225
Maprs1057516225
PheGenIrs1057516225
Biobankrs1057516225
1000 genomesrs1057516225
hgdprs1057516225
ensemblrs1057516225
gopubmedrs1057516225
geneviewrs1057516225
scholarrs1057516225
googlers1057516225
pharmgkbrs1057516225
gwascentralrs1057516225
openSNPrs1057516225
23andMers1057516225
23andMe allrs1057516225
SNPshotrs1057516225
SNPdbers1057516225
MSV3drs1057516225
GWAS Ctlgrs1057516225
Max Magnitude0
ClinVar
Risk rs1057516225(A;A)
Alt rs1057516225(A;A)
Reference Rs1057516225(C;C)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45706562C>A
CLNSRC
CLNACC RCV000410887.1,