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rs786204567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786204567(-;C)
Make rs786204567(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position44293146
GeneAIRE
is asnp
is mentioned by
dbSNPrs786204567
dbSNP (classic)rs786204567
ClinGenrs786204567
ebirs786204567
HLIrs786204567
Exacrs786204567
Gnomadrs786204567
Varsomers786204567
LitVarrs786204567
Maprs786204567
PheGenIrs786204567
Biobankrs786204567
1000 genomesrs786204567
hgdprs786204567
ensemblrs786204567
geneviewrs786204567
scholarrs786204567
googlers786204567
pharmgkbrs786204567
gwascentralrs786204567
openSNPrs786204567
23andMers786204567
SNPshotrs786204567
SNPdbers786204567
MSV3drs786204567
GWAS Ctlgrs786204567
Max Magnitude0
ClinVar
Risk rs786204567(C;C)
Alt rs786204567(C;C)
Reference Rs786204567(-;-)
Significance Pathogenic
Disease Polyglandular autoimmune syndrome not provided
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1 not provided
Reversed 0
HGVS NC_000021.8:g.45713029dupC
CLNSRC
CLNACC RCV000169307.1, RCV000320611.2,