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

rs121434256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434256(C;T)
Make rs121434256(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44287085
GeneAIRE
is asnp
is mentioned by
dbSNPrs121434256
ebirs121434256
HLIrs121434256
Exacrs121434256
Varsomers121434256
Maprs121434256
PheGenIrs121434256
hapmaprs121434256
1000 genomesrs121434256
hgdprs121434256
ensemblrs121434256
gopubmedrs121434256
geneviewrs121434256
scholarrs121434256
googlers121434256
pharmgkbrs121434256
gwascentralrs121434256
openSNPrs121434256
23andMers121434256
23andMe allrs121434256
SNP Nexus

SNPshotrs121434256
SNPdbers121434256
MSV3drs121434256
GWAS Ctlgrs121434256
Max Magnitude0
OMIM607358
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434256(G,T;G,T)
Alt rs121434256(G,T;G,T)
Reference rs121434256(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.45706968C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000169129.3,