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rs72650677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72650677(C;T)
Make rs72650677(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44293832
GeneAIRE
is asnp
is mentioned by
dbSNPrs72650677
ebirs72650677
HLIrs72650677
Exacrs72650677
Varsomers72650677
Maprs72650677
PheGenIrs72650677
hapmaprs72650677
1000 genomesrs72650677
hgdprs72650677
ensemblrs72650677
gopubmedrs72650677
geneviewrs72650677
scholarrs72650677
googlers72650677
pharmgkbrs72650677
gwascentralrs72650677
openSNPrs72650677
23andMers72650677
23andMe allrs72650677
SNP Nexus

SNPshotrs72650677
SNPdbers72650677
MSV3drs72650677
GWAS Ctlgrs72650677
Max Magnitude0
ClinVar
Risk rs72650677(T;T)
Alt rs72650677(T;T)
Reference rs72650677(C;C)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45713715C>T
CLNSRC ClinVar
CLNACC RCV000029308.1,



[PMID 17101293] AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.