Variant (rsID / SNP)

rs6027

rs6027 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F5. Location: chromosome 1, position 169,483,561. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

F5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:169483561
Cytoband: 1q24.2
HGVS: NM_000130.5(F5):c.6665A>G (p.Asp2222Gly)
Allele change: Missense_D2222G

Associated conditions / phenotypes

Thrombophilia due to activated protein C resistance

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.