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rs1057516985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516985(A;A)
Make rs1057516985(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44296447
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057516985
dbSNP (old)rs1057516985
ClinGenrs1057516985
ebirs1057516985
HLIrs1057516985
Exacrs1057516985
Gnomadrs1057516985
Varsomers1057516985
Maprs1057516985
PheGenIrs1057516985
Biobankrs1057516985
1000 genomesrs1057516985
hgdprs1057516985
ensemblrs1057516985
gopubmedrs1057516985
geneviewrs1057516985
scholarrs1057516985
googlers1057516985
pharmgkbrs1057516985
gwascentralrs1057516985
openSNPrs1057516985
23andMers1057516985
23andMe allrs1057516985
SNPshotrs1057516985
SNPdbers1057516985
MSV3drs1057516985
GWAS Ctlgrs1057516985
Max Magnitude0
ClinVar
Risk rs1057516985(A;A)
Alt rs1057516985(A;A)
Reference Rs1057516985(T;T)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45716330T>A
CLNSRC
CLNACC RCV000410277.1,