Table 4.
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 × 10−9 | |
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 × 10−8 | |
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 |
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