Variant (rsID / SNP)

rs192215705

rs192215705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIRE. Location: chromosome 21, position 45,717,534. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AIREConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 21:45717534
Cytoband: 21q22.3
HGVS: NM_000383.4(AIRE):c.1567-5C>T
Allele change: Silent

Associated conditions / phenotypes

Polyglandular autoimmune syndrome, type 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.