Variant (rsID / SNP)
rs10781499
rs10781499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD9. Location: chromosome 9, position 139,266,405. Clinical significance in the table: Benign.
Reference-table entries
CARD9Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:139266405
- Cytoband
- 9q34.3
- HGVS
- NM_052813.5(CARD9):c.126C>T (p.Pro42=)
- Allele change
- Synonymous_P42P
Associated conditions / phenotypes
Predisposition to invasive fungal disease due to CARD9 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.