Gene entry
AIRE
autoimmune regulator
- Chromosome
- 21
- Cytoband
- 21q22.3
- Variants (rsID)
- 16
AIRE is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.3). Its official name is “autoimmune regulator”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs74203920Benignsingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs150634562Conflicting interpretationssingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs192215705Conflicting interpretationssingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs72650677Conflicting interpretationssingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs121434254Pathogenicsingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs121434256Pathogenicsingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs121434257Pathogenicsingle nucleotide variantAutoimmune polyglandular syndrome type 1, autosomal dominant
- rs179363878Pathogenicsingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs179363882Pathogenicsingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs179363889Pathogenicsingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs193922418Pathogenicsingle nucleotide variantPolyglandular autoimmune syndrome, type 1
- rs786204567PathogenicDuplicationPolyglandular autoimmune syndrome, type 1
- rs142788946Uncertain significancesingle nucleotide variantPolyglandular autoimmune syndrome, type 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.