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rs121434255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434255(A;G)
Make rs121434255(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44286671
GeneAIRE
is asnp
is mentioned by
dbSNPrs121434255
ebirs121434255
HLIrs121434255
Exacrs121434255
Varsomers121434255
Maprs121434255
PheGenIrs121434255
hapmaprs121434255
1000 genomesrs121434255
hgdprs121434255
ensemblrs121434255
gopubmedrs121434255
geneviewrs121434255
scholarrs121434255
googlers121434255
pharmgkbrs121434255
gwascentralrs121434255
openSNPrs121434255
23andMers121434255
23andMe allrs121434255
SNP Nexus

SNPshotrs121434255
SNPdbers121434255
MSV3drs121434255
GWAS Ctlgrs121434255
Max Magnitude0
OMIM607358
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434255(G;G)
Alt rs121434255(G;G)
Reference rs121434255(A;A)
Significance Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45706554A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003471.2,