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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
    1
    1. krisBussey97 14 Feb 2025

      STAB2(rs760013563):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS

      STAB2(rs377067548):c.C>G, noted as synonymous protein effect and VarSome classifies it as a VUS

      STAB2(rs377011398):c.G>A, noted as missense protein effect and VarSome classifies it as a VUS

      STAB2(12:104067708):c.T>C, noted as missense protein effect and VarSome classifies it as a VUS

      STAB2(rs766516074):c.G>C, noted as missense protein effect and VarSome classifies it as Likely Benign

      STAB2(rs189453513):c.C>G, noted as synonymous protein effect and VarSome classifies it as Likely Benign

      STAB2(rs142351376):c.C>T, noted as missense protein effect and VarSome classifies it as Likely Benign

      STAB2(rs151219602):c. C>T, noted as synonymous protein effect and VarSome classifies it as Likely Benign

      STAB2(rs149382223):c.T>C, noted as missense protein effect and VarSome classifies it as Likely Benign

      STAB2(rs2271636):c.G>T, noted as synonymous protein effect and VarSome classifies it as Benign

      STAB2(rs2271638):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign

      STAB2(rs34699746):c.C>T, noted as synonymous protein effect and VarSome classifies it as Likely Benign

      STAB2(rs147053330):c.G>A, noted as synonymous protein effect and VarSome classifies it as Likely Benign

      STAB2(rs149524008):c.G>T, noted as missense protein effect and VarSome classifies it as Likely Benign

      STAB2(rs116894406):c.G>A, noted as missense protein effect and VarSome classifies it as Likely Benign

      STAB2(rs148397037):c.G>A, noted as synonymous protein effect and VarSome classifies it as Likely Benign

      STAB2(rs17034336):c.G>A, noted as missense protein effect and VarSome classifies it as Benign

      STAB2(rs7973658):c.G>A, noted as missense protein effect and VarSome classifies it as Benign

      STAB2(rs17034433):c.A>C, noted as missense protein effect and VarSome classifies it as Benign

      STAB2(rs35102665):c.G>A, noted as synonymous protein effect and VarSome classifies it as Likely Benign

      STAB2(rs7306642):c.C>A, noted as missense protein effect and VarSome classifies it as Benign

      STAB2(rs1609860):c.C>A, noted as missense protein effect and VarSome classifies it as Benign

      STAB2(rs2292688):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign

      STAB2(rs10778281):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign

      STAB2(rs2271637):c.C>G, noted as missense protein effect and VarSome classifies it as Benign

      STAB2(rs697210):c.T>C, noted as synonymous protein effect and VarSome classifies it as Benign

      STAB2(rs11614418):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign

      STAB2(rs703651):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign

      STAB2(rs697212):c.T>C, noted as synonymous protein effect and VarSome classifies it as Benign

      STAB2 VWD Swedish cohort GWAS
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    pmc.ncbi.nlm.nih.gov/articles/PMC7603419/