Variant (rsID / SNP)
rs6092
rs6092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINE1. Location: chromosome 7, position 100,771,717. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SERPINE1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:100771717
- Cytoband
- 7q22.1
- HGVS
- NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)
- Allele change
- Missense_A15T
Associated conditions / phenotypes
Congenital plasminogen activator inhibitor type 1 deficiency|Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.