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rs121434254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434254(C;T)
Make rs121434254(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44289773
GeneAIRE
is asnp
is mentioned by
dbSNPrs121434254
ebirs121434254
HLIrs121434254
Exacrs121434254
Varsomers121434254
Maprs121434254
PheGenIrs121434254
hapmaprs121434254
1000 genomesrs121434254
hgdprs121434254
ensemblrs121434254
gopubmedrs121434254
geneviewrs121434254
scholarrs121434254
googlers121434254
pharmgkbrs121434254
gwascentralrs121434254
openSNPrs121434254
23andMers121434254
23andMe allrs121434254
SNP Nexus

SNPshotrs121434254
SNPdbers121434254
MSV3drs121434254
GWAS Ctlgrs121434254
Max Magnitude0
OMIM607358
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434254(A,T;A,T)
Alt rs121434254(A,T;A,T)
Reference rs121434254(C;C)
Significance Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45709656C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000179294.2,