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rs1057516499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516499(A;A)
Make rs1057516499(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44286657
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057516499
dbSNP (classic)rs1057516499
ClinGenrs1057516499
ebirs1057516499
HLIrs1057516499
Exacrs1057516499
Gnomadrs1057516499
Varsomers1057516499
LitVarrs1057516499
Maprs1057516499
PheGenIrs1057516499
Biobankrs1057516499
1000 genomesrs1057516499
hgdprs1057516499
ensemblrs1057516499
geneviewrs1057516499
scholarrs1057516499
googlers1057516499
pharmgkbrs1057516499
gwascentralrs1057516499
openSNPrs1057516499
23andMers1057516499
23andMe allrs1057516499
SNPshotrs1057516499
SNPdbers1057516499
MSV3drs1057516499
GWAS Ctlgrs1057516499
Max Magnitude0
ClinVar
Risk rs1057516499(A;A)
Alt rs1057516499(A;A)
Reference Rs1057516499(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.45706540G>A
CLNSRC
CLNACC RCV000409857.1,