Variant (rsID / SNP)

rs9332701

rs9332701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F5. Location: chromosome 1, position 169,484,767. 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: 1:169484767
Cytoband: 1q24.2
HGVS: NM_000130.5(F5):c.6443T>C (p.Met2148Thr)
Allele change: Missense_M2148T

Associated conditions / phenotypes

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

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.