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rs142788946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142788946(G;T)
Make rs142788946(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44287012
GeneAIRE
is asnp
is mentioned by
dbSNPrs142788946
ebirs142788946
HLIrs142788946
Exacrs142788946
Varsomers142788946
Maprs142788946
PheGenIrs142788946
hapmaprs142788946
1000 genomesrs142788946
hgdprs142788946
ensemblrs142788946
gopubmedrs142788946
geneviewrs142788946
scholarrs142788946
googlers142788946
pharmgkbrs142788946
gwascentralrs142788946
openSNPrs142788946
23andMers142788946
23andMe allrs142788946
SNP Nexus

SNPshotrs142788946
SNPdbers142788946
MSV3drs142788946
GWAS Ctlgrs142788946
Max Magnitude0
ClinVar
Risk rs142788946(T;T)
Alt rs142788946(T;T)
Reference rs142788946(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.45706895G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029311.1,