Variant (rsID / SNP)
rs12086634
rs12086634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD11B1. Location: chromosome 1, position 209,880,259. Clinical significance in the table: Benign.
Reference-table entries
HSD11B1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:209880259
- Cytoband
- 1q32.2
- HGVS
- NM_005525.4(HSD11B1):c.332-29T>G
- Allele change
- Silent
Associated conditions / phenotypes
Cortisone reductase deficiency 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.