Variant (rsID / SNP)

rs6020

rs6020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F5. Location: chromosome 1, position 169,519,112. 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: 1:169519112
Cytoband: 1q24.2
HGVS: NM_000130.5(F5):c.1538G>A (p.Arg513Lys)
Allele change: Missense_R513K

Associated conditions / phenotypes

Thrombophilia due to activated protein C resistance|Thrombophilia due to thrombin defect|Factor V deficiency|Budd-Chiari syndrome

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.