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rs179363889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs179363889(C;T)
Make rs179363889(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome21
Position44297705
GeneAIRE
is asnp
is mentioned by
dbSNPrs179363889
dbSNP (classic)rs179363889
ClinGenrs179363889
ebirs179363889
HLIrs179363889
Exacrs179363889
Gnomadrs179363889
Varsomers179363889
LitVarrs179363889
Maprs179363889
PheGenIrs179363889
Biobankrs179363889
1000 genomesrs179363889
hgdprs179363889
ensemblrs179363889
geneviewrs179363889
scholarrs179363889
googlers179363889
pharmgkbrs179363889
gwascentralrs179363889
openSNPrs179363889
23andMers179363889
23andMe allrs179363889
SNPshotrs179363889
SNPdbers179363889
MSV3drs179363889
GWAS Ctlgrs179363889
Max Magnitude0
ClinVar
Risk rs179363889(T;T)
Alt rs179363889(T;T)
Reference Rs179363889(C;C)
Significance 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.45717588C>T
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059052.2, RCV000409203.1,