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rs267606642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606642(G;G)
Make rs267606642(G;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44286663
GeneAIRE
is asnp
is mentioned by
dbSNPrs267606642
dbSNP (classic)rs267606642
ClinGenrs267606642
ebirs267606642
HLIrs267606642
Exacrs267606642
Gnomadrs267606642
Varsomers267606642
LitVarrs267606642
Maprs267606642
PheGenIrs267606642
Biobankrs267606642
1000 genomesrs267606642
hgdprs267606642
ensemblrs267606642
geneviewrs267606642
scholarrs267606642
googlers267606642
pharmgkbrs267606642
gwascentralrs267606642
openSNPrs267606642
23andMers267606642
SNPshotrs267606642
SNPdbers267606642
MSV3drs267606642
GWAS Ctlgrs267606642
Max Magnitude0
ClinVar
Risk rs267606642(G;G)
Alt rs267606642(G;G)
Reference Rs267606642(T;T)
Significance Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45706546T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003481.3,