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rs179363880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs179363880(A;A)
Make rs179363880(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position44286656
GeneAIRE
is asnp
is mentioned by
dbSNPrs179363880
dbSNP (classic)rs179363880
ClinGenrs179363880
ebirs179363880
HLIrs179363880
Exacrs179363880
Gnomadrs179363880
Varsomers179363880
LitVarrs179363880
Maprs179363880
PheGenIrs179363880
Biobankrs179363880
1000 genomesrs179363880
hgdprs179363880
ensemblrs179363880
geneviewrs179363880
scholarrs179363880
googlers179363880
pharmgkbrs179363880
gwascentralrs179363880
openSNPrs179363880
23andMers179363880
SNPshotrs179363880
SNPdbers179363880
MSV3drs179363880
GWAS Ctlgrs179363880
Max Magnitude0
ClinVar
Risk rs179363880(A;A) rs179363880(C;C)
Alt rs179363880(A;A) rs179363880(C;C)
Reference Rs179363880(T;T)
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.45706539T>A; NC_000021.8:g.45706539T>C
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059054.1, RCV000169457.1,