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Table 4 Lead gene-based population-specific results

From: Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Phenotype Model Gene B38 positions N Variants Singletons P
Per90 HA LINC01277 6:142,985,371–143,010,415 2803 2 0 5.02 × 10−8
  OR5K2 3:98,497,633–98,498,634 2803 1 0 2.74 × 10−7
AA females S100A16* 1:153,607,528–153,616,353 1009 1 1 2.07 × 10−7
  CSMD2-AS1 1:33,867,977–33,885,456 1009 1 1 2.07 × 10−7
EA females MRPS33 7:141,006,422–141,014,911 1702 9 8 1.22 × 109
  LINC01811 3:34,170,921–34,558,474 1702 6 5 9.71 × 10−8
  NELFCD* 20:58,980,722–58,995,761 1702 12 10 3.32 × 10−7
  SLC22A8* 11:62,988,399–63,015,986 1702 3 3 3.58 × 10−7
HA females AL132709.1 14:101,077,452–101,077,578 1660 2 0 1.41 × 10−7
  EPHX4 1:92,029,443–92,063,474 1660 12 10 3.48 × 10−7
HA males C16orf90 16:3,493,483–3,496,479 1143 6 3 1.36 × 108
  TVP23B 17:18,781,270–18,806,714 1143 4 4 2.53 × 10−7
  IPCEF1 6:154,154,536–154,356,890 1143 10 8 4.07 × 10−7
  1. Lead MMSKAT gene-based population-specific associations within one order of magnitude of significance (p < 4.51 × 10−8) are shown. The Variants column indicates the number of filtered polymorphic variants with minor allele frequency < 5% available for testing, a portion of which were singletons. *Druggable gene [59, 60]. Full results for genes with p < 0.01, including descriptions, are provided in Additional file 1: Table S5. A list of individual variants comprising each gene is provided in Additional file 1: Table S6