Table 2 Significant CNVRs identified in the AGS cohort
Chromosome | Start (bp) | End (bp) | Length (bp) | Type | P-value | Adjusted p-value | Gene | Cases % | Controls % |
|---|---|---|---|---|---|---|---|---|---|
1 | 1,262,701 | 1,270,132 | 7433 | Loss | 7.09e-03 | 1.63e-01 | CPTP, TAS1R3 | 16 | 4.96 |
1 | 17,361,781 | 17,371,377 | 9598 | Loss | 6.22e-04 | 2.56e-02 | SDHB | 14.5 | 2.48 |
2 | 166,854,547 | 166,866,353 | 11,808 | Gain | 3.02e-02 | 4.65e-01 | SCN1A | 0.763 | 5.79 |
2 | 189,850,694 | 189,871,691 | 20,999 | Gain | 1.15e-02 | 2.10e-01 | COL3A1 | 0 | 4.96 |
2 | 189,850,694 | 189,871,691 | 20,999 | Loss | 3.71e-02 | 4.65e-01 | COL3A1 | 6.11 | 0.826 |
4 | 128,851,902 | 128,859,998 | 8098 | Loss | 5.54e-04 | 2.56e-02 | MFSD8 | 13 | 1.65 |
5 | 700,560 | 840,586 | 140,028 | Loss | 3.71e-02 | 4.65e-01 | ZDHHC11 | 6.11 | 0.826 |
5 | 37,000,942 | 37,010,310 | 9370 | Loss | 7.29e-03 | 1.63e-01 | NIPBL | 6.11 | 0 |
5 | 37,024,691 | 37,046,283 | 21,594 | Loss | 3.71e-02 | 4.65e-01 | NIPBL | 6.11 | 0.826 |
5 | 112,102,584 | 112,111,355 | 8773 | Loss | 5.85e-03 | 1.63e-01 | APC | 13 | 3.31 |
6 | 32,496,275 | 32,520,907 | 24,634 | Loss | 3.68e-02 | 4.65e-01 | HLA-DRB1,HLA-DRB5, HLA-DRB6 | 29 | 17.4 |
6 | 32,537,353 | 32,561,576 | 24,225 | Loss | 8.61e-03 | 1.73e-01 | HLA-DRB1,HLA-DRB5, HLA-DRB6 | 13.7 | 4.13 |
8 | 144,943,389 | 144,952,259 | 8872 | Loss | 6.36e-04 | 2.56e-02 | EPPK1 | 26.7 | 9.92 |
8 | 144,994,028 | 145,000,413 | 6387 | Loss | 6.29e-04 | 2.56e-02 | PLEC | 24.4 | 8.26 |
12 | 111,856,187 | 111,885,143 | 28,958 | Loss | 1.15e-03 | 3.87e-02 | SH2B3 | 47.3 | 27.3 |
13 | 32,912,236 | 32,921,033 | 8799 | Loss | 1.15e-04 | 2.30e-02 | BRCA2 | 37.4 | 15.7 |