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rs1057517072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCCG;CCCG) 0 common in clinvar
Make rs1057517072(-;-)
Make rs1057517072(-;CGCC)
Make rs1057517072(CGCC;CGCC)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44294480
GeneAIRE
is asnp
is mentioned by
dbSNPrs1057517072
dbSNP (old)rs1057517072
ClinGenrs1057517072
ebirs1057517072
HLIrs1057517072
Exacrs1057517072
Gnomadrs1057517072
Varsomers1057517072
LitVarrs1057517072
Maprs1057517072
PheGenIrs1057517072
Biobankrs1057517072
1000 genomesrs1057517072
hgdprs1057517072
ensemblrs1057517072
gopubmedrs1057517072
geneviewrs1057517072
scholarrs1057517072
googlers1057517072
pharmgkbrs1057517072
gwascentralrs1057517072
openSNPrs1057517072
23andMers1057517072
23andMe allrs1057517072
SNPshotrs1057517072
SNPdbers1057517072
MSV3drs1057517072
GWAS Ctlgrs1057517072
Max Magnitude0
ClinVar
Risk rs1057517072(-;-)
Alt rs1057517072(-;-)
Reference Rs1057517072(CCCG;CCCG)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45714363_45714366delCGCC
CLNSRC
CLNACC RCV000409587.1,