Variant (rsID / SNP)
rs6025
rs6025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F5. Location: chromosome 1, position 169,519,049. Clinical significance in the table: Pathogenic; risk factor.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:169519049
- Cytoband
- 1q24.2
- HGVS
- NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
- Allele change
- Missense_Q534R
Associated conditions / phenotypes
Budd-Chiari syndrome, susceptibility to|Ischemic stroke|Pregnancy loss, recurrent, susceptibility to, 1|Factor V deficiency|Thrombophilia due to activated protein C resistance|Factor V deficiency|Thrombophilia due to activated protein C resistance|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.
