Variant (rsID / SNP)

rs139466192

rs139466192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD14. Location: chromosome 17, position 78,163,589. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CARD14Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:78163589
Cytoband: 17q25.3
HGVS: NM_001366385.1(CARD14):c.881C>T (p.Ala294Val)
Allele change: Silent

Associated conditions / phenotypes

Psoriasis 2|Pityriasis rubra pilaris|Autoinflammatory syndrome

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.