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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

      STX2(rs145834567):c.T>C, noted as missense protein effect and Varsome classifies it as a VUS.

      STX2(rs137928907):c.A>C, noted as missense protein effect and Varsome classifies it as a VUS.

      STX2(rs17564):c.G>C, noted as missense protein effect and Varsome classifies it as Benign.

      STX2 VWD Swedish cohort GWAS multiple variants
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    pmc.ncbi.nlm.nih.gov/articles/PMC7603419/