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rs193922418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922418(A;A)
Make rs193922418(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44287133
GeneAIRE
is asnp
is mentioned by
dbSNPrs193922418
ebirs193922418
HLIrs193922418
Exacrs193922418
Varsomers193922418
Maprs193922418
PheGenIrs193922418
hapmaprs193922418
1000 genomesrs193922418
hgdprs193922418
ensemblrs193922418
gopubmedrs193922418
geneviewrs193922418
scholarrs193922418
googlers193922418
pharmgkbrs193922418
gwascentralrs193922418
openSNPrs193922418
23andMers193922418
23andMe allrs193922418
SNP Nexus

SNPshotrs193922418
SNPdbers193922418
MSV3drs193922418
GWAS Ctlgrs193922418
Max Magnitude0
ClinVar
Risk rs193922418(A;A)
Alt rs193922418(A;A)
Reference rs193922418(G;G)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45707016G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029313.1,