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rs179363886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs179363886(C;T)
Make rs179363886(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position44286068
GeneAIRE
is asnp
is mentioned by
dbSNPrs179363886
dbSNP (classic)rs179363886
ClinGenrs179363886
ebirs179363886
HLIrs179363886
Exacrs179363886
Gnomadrs179363886
Varsomers179363886
LitVarrs179363886
Maprs179363886
PheGenIrs179363886
Biobankrs179363886
1000 genomesrs179363886
hgdprs179363886
ensemblrs179363886
geneviewrs179363886
scholarrs179363886
googlers179363886
pharmgkbrs179363886
gwascentralrs179363886
openSNPrs179363886
23andMers179363886
SNPshotrs179363886
SNPdbers179363886
MSV3drs179363886
GWAS Ctlgrs179363886
Max Magnitude0
ClinVar
Risk rs179363886(T;T)
Alt rs179363886(T;T)
Reference Rs179363886(C;C)
Significance Probable-Pathogenic
Disease not provided Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN not provided Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45705951C>T
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059062.1, RCV000169178.1,