Variant (rsID / SNP)

rs12484684

rs12484684 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL17RA. Location: chromosome 22, position 17,589,794. Clinical significance in the table: Benign.

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Reference-table entries

IL17RABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:17589794
Cytoband: 22q11.1
HGVS: NM_014339.7(IL17RA):c.1685C>A (p.Pro562Gln)
Allele change: Missense_P562Q

Associated conditions / phenotypes

Familial Candidiasis, Recessive|Immunodeficiency 51

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.