Table 2 SVs overlapping genes enriched in LoF and missense variants in SEVTIN and TIGER cohorts.
From: Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
Overlapping candidate gene | Structural variant coordinates (ChrStartEnd) | Type of SV | TIGER (n = 97) | SEVTIN (n = 34) | SweGen (n = 1000) | p value |
|---|---|---|---|---|---|---|
NAV2 | 11:19617912–19620833 | DEL | 1 (0.010) | 1 (0.029) | 1 (0.001) | 0.098 |
TMEM132D | 12:129087937–129089566 | DEL | 21 (0.216) | 8 (0.235) | 17 (0.017) | <0.001 |
CACNA1E | 1:65590243–213271783 | DUP | 1 (0.010) | 1 (0.029) | 5 (0.005) | 0.070 |
1:65590258–213271483 | DEL | 3 (0.030) | 3 (0.088) | 26 (0.026) | 0.349 | |
1:114479837–212725029 | DEL | 5 (0.051) | 3 (0.088) | 39 (0.039) | 0.063 |
