Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517241

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517241(C;T)
Make rs1057517241(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44287570
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057517241
dbSNP (old)rs1057517241
ClinGenrs1057517241
ebirs1057517241
HLIrs1057517241
Exacrs1057517241
Gnomadrs1057517241
Varsomers1057517241
Maprs1057517241
PheGenIrs1057517241
Biobankrs1057517241
1000 genomesrs1057517241
hgdprs1057517241
ensemblrs1057517241
gopubmedrs1057517241
geneviewrs1057517241
scholarrs1057517241
googlers1057517241
pharmgkbrs1057517241
gwascentralrs1057517241
openSNPrs1057517241
23andMers1057517241
23andMe allrs1057517241
SNPshotrs1057517241
SNPdbers1057517241
MSV3drs1057517241
GWAS Ctlgrs1057517241
Max Magnitude0
ClinVar
Risk rs1057517241(T;T)
Alt rs1057517241(T;T)
Reference Rs1057517241(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.45707453C>T
CLNSRC
CLNACC RCV000411349.1,