Variant (rsID / SNP)
rs7003319
rs7003319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B1. Location: chromosome 8, position 143,954,747. Clinical significance in the table: Benign.
Reference-table entries
CYP11B1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:143954747
- Cytoband
- 8q24.3
- HGVS
- NM_000497.4(CYP11B1):c.*1042A>G
- Allele change
- Silent
Associated conditions / phenotypes
Deficiency of steroid 11-beta-monooxygenase|Glucocorticoid-remediable aldosteronism
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
