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rs193922417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922417(C;T)
Make rs193922417(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44287041
GeneAIRE
is asnp
is mentioned by
dbSNPrs193922417
ebirs193922417
HLIrs193922417
Exacrs193922417
Varsomers193922417
Maprs193922417
PheGenIrs193922417
hapmaprs193922417
1000 genomesrs193922417
hgdprs193922417
ensemblrs193922417
gopubmedrs193922417
geneviewrs193922417
scholarrs193922417
googlers193922417
pharmgkbrs193922417
gwascentralrs193922417
openSNPrs193922417
23andMers193922417
23andMe allrs193922417
SNP Nexus

SNPshotrs193922417
SNPdbers193922417
MSV3drs193922417
GWAS Ctlgrs193922417
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs193922417(T;T)
Alt rs193922417(T;T)
Reference rs193922417(C;C)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45706924C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029312.1,