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  1. Feb 2025
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Common and Rare Variants in Genes Associated with von Willebrand Factor Level Variation: No Accumulation of Rare Variants in Swedish von Willebrand Disease Patients
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    1. krisBussey97 14 Feb 2025

      TC2N(rs756737332):c.C>T, noted as missense protein effect and VarSome classifies it as a VUS.

      TC2N(rs144110131):c.T>G, noted as missense protein effect and VarSome classifies it as a VUS.

      TC2N(rs2402073):c.G>T, noted as missense protein effect and VarSome classifies it as Benign

      TC2N(rs2402073):c.G>A,noted as missense protein effect and VarSome classifies it as Likely Benign

      TC2N VWD GWAS Swedish cohort
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    pmc.ncbi.nlm.nih.gov/articles/PMC7603419/