Variant (rsID / SNP)
rs7242
rs7242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINE1. Location: chromosome 7, position 100,781,445. Clinical significance in the table: Benign.
Reference-table entries
SERPINE1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:100781445
- Cytoband
- 7q22.1
- HGVS
- NM_000602.5(SERPINE1):c.*722T>G
- Allele change
- Silent
Associated conditions / phenotypes
Congenital plasminogen activator inhibitor type 1 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.