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. Author manuscript; available in PMC: 2021 Sep 1.
Published in final edited form as: Mol Genet Metab. 2020 May 1;131(1-2):83–89. doi: 10.1016/j.ymgme.2020.04.005

Table 1:

Frequency of LCAD K333Q (rs2286963) in patients with pediatric lung disease.

Cohort N Q Allele Frequency
gnomAD database (European) 133,460 0.35
gnomAD database (African) 15,294 0.14
ABCA3-deficient infants with respiratory failure (Caucasian) 30 0.38
Full-term infants with diffuse lung disease (Caucasian) 60 0.36
Pre-term infants (>28 weeks) with severe RDS (Caucasian) 52 0.39
Children hospitalized with pneumonia (Caucasian) 301 0.33
Children hospitalized with pneumonia (African American) 474 0.17