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rs1057517268

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1057517268(-;-)
Make rs1057517268(-;AG)
Make rs1057517268(AG;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44289998
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057517268
dbSNP (old)rs1057517268
ClinGenrs1057517268
ebirs1057517268
HLIrs1057517268
Exacrs1057517268
Gnomadrs1057517268
Varsomers1057517268
Maprs1057517268
PheGenIrs1057517268
Biobankrs1057517268
1000 genomesrs1057517268
hgdprs1057517268
ensemblrs1057517268
gopubmedrs1057517268
geneviewrs1057517268
scholarrs1057517268
googlers1057517268
pharmgkbrs1057517268
gwascentralrs1057517268
openSNPrs1057517268
23andMers1057517268
23andMe allrs1057517268
SNPshotrs1057517268
SNPdbers1057517268
MSV3drs1057517268
GWAS Ctlgrs1057517268
Max Magnitude0
ClinVar
Risk rs1057517268(-;-)
Alt rs1057517268(-;-)
Reference Rs1057517268(GA;GA)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45709881_45709882delAG
CLNSRC
CLNACC RCV000411715.1,