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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients
    1
    1. ClingenBaseline 23 Oct 2026
      rs617505986127570c.5014G > A28p.G1672R30.000712A

      Case:n.a.

      DiseaseAssertion:VWD 2A

      FamilyInfo:n.a.

      ParentalGenotype(s):n.a.

      CasePresentingHPOs:n.a.

      CaseHPOFreeRext:n.a.

      CaseNOTHPOs:n.a.

      CaseNOTHPOFreeText:n.a.

      CasePreviousTesting:n.a.

      GenotypingMethod:n.a.

      PreviouslyPublished: If applicable.n.a.

      Gene: VWF

      Variant:c.5014G > A

      HGVS:NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg)

      ClinVarID:100414

      CAID:n.a.

      gnomAD:n.a.

      DiseaseEntity:VWD2A ClinVarID:100414 inferred_gene_hgnc:12726 inferred_gene_source:RefSeq ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC6524857/