Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434258(A;T)
Make rs121434258(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44286007
GeneAIRE
is asnp
is mentioned by
dbSNPrs121434258
ebirs121434258
HLIrs121434258
Exacrs121434258
Varsomers121434258
Maprs121434258
PheGenIrs121434258
hapmaprs121434258
1000 genomesrs121434258
hgdprs121434258
ensemblrs121434258
gopubmedrs121434258
geneviewrs121434258
scholarrs121434258
googlers121434258
pharmgkbrs121434258
gwascentralrs121434258
openSNPrs121434258
23andMers121434258
23andMe allrs121434258
SNP Nexus

SNPshotrs121434258
SNPdbers121434258
MSV3drs121434258
GWAS Ctlgrs121434258
Max Magnitude0
OMIM607358
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121434258(G,T;G,T)
Alt rs121434258(G,T;G,T)
Reference rs121434258(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.45705890A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003478.2,