rs11244263 - LAMC3

Magnitude 2.0 · 1 study on file

Reported associations

• Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States - Unknown journal (n.d.) · Unknown authors · PubMed 34356046

  ABSTRACT: Conotruncal defects with normally related great vessels (CTD-NRGVs) occur in both patients with and without 22q11.2 deletion syndrome (22q11.2DS), but it is unclear to what extent the genetically complex etiologies of these heart defects may overlap across these two groups, potentially involving variation within and/or outside of the 22q11.2 region. To explore this potential overlap, we conducted genome-wide SNP-level, gene-level, and gene set analyses using common variants, separately in each of five cohorts, including two with 22q11.2DS (N = 1472 total cases) and three without 22q11.2DS (N = 935 total cases). Results from the SNP-level analyses were combined in meta-analyses, and summary statistics from these analyses were also used in gene and gene set analyses. Across all the

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