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rs121434257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434257(G;T)
Make rs121434257(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44289686
GeneAIRE
is asnp
is mentioned by
dbSNPrs121434257
ebirs121434257
HLIrs121434257
Exacrs121434257
Varsomers121434257
Maprs121434257
PheGenIrs121434257
hapmaprs121434257
1000 genomesrs121434257
hgdprs121434257
ensemblrs121434257
gopubmedrs121434257
geneviewrs121434257
scholarrs121434257
googlers121434257
pharmgkbrs121434257
gwascentralrs121434257
openSNPrs121434257
23andMers121434257
23andMe allrs121434257
SNP Nexus

SNPshotrs121434257
SNPdbers121434257
MSV3drs121434257
GWAS Ctlgrs121434257
Max Magnitude0
OMIM607358
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434257(A,T;A,T)
Alt rs121434257(A,T;A,T)
Reference rs121434257(G;G)
Significance Pathogenic
Disease Autoimmune polyglandular syndrome type 1
Variation info
Gene AIRE
CLNDBN Autoimmune polyglandular syndrome type 1, autosomal dominant
Reversed 0
HGVS NC_000021.8:g.45709569G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003477.1,