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3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
    3
    1. Vibhor 26 Jul 2026
      in read_only_demo_group
      Table S2. ABCA4 variant categorization:

      This variant is found in table S2A to have an OR of infinity with a CI (10.92-infinity).

      PS4 SupplementalTable ClinVarID: 1460063 CA341283936 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
    2. Vibhor 26 Jul 2026
      in read_only_demo_group
      Table S2. ABCA4 variant categorization:

      This variant is found in table S2A to have an OR of infinity with a CI (25.35-infinity), so PS4 is applicable

      ClinVar ID: 2202779 CA341277358 PS4 SupplementalTable automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
    3. Vibhor 26 Jul 2026
      in read_only_demo_group
      Table S2. ABCA4 variant categorization:

      This variant is found in table S2A to have an OR of infinity with a CI (14.02-infinity), so PS4 is applicable

      PS4 SupplementalTable ClinVarID: 2202780 CA341277622 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
    Visit annotations in context

    Tags

    • CA341277358
    • SupplementalTable
    • CA341277622
    • automated_hgnc_source:CAID
    • ClinVarID: 1460063
    • automated_hgnc:34
    • PS4
    • CA341283936
    • ClinGen ABCA4 Annotations
    • ClinVarID: 2202780
    • ClinVar ID: 2202779

    Annotators

    • Vibhor

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8948157/
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