Table 2.
Association analysis results of the identified rare damaging variants in CLCC1.
| Model | AC (patients) n = 1005 | HCs, n = 1224 | GnomAD_EAS_non_neuro, n = 7488 a | ||||
|---|---|---|---|---|---|---|---|
| AC | p value | OR [95% CI] | AC | p value | OR [95% CI] | ||
| Gene level | 4 | 5 | 1.00 | 0.97 [0.30–3.21] | 33 | 1.00 | 0.90 [0.34–2.38] |
| c.A275C | 1 | 0 | 0.45 | Inf [0.14‐Inf] | 0 | 0.12 | Inf [0.83‐Inf] |
| c.G1139A | 1 | 0 | 0.45 | Inf [0.14‐Inf] | 1 | 0.22 | 7.45 [0.40–141.60] |
| c.C1244T | 1 | 0 | 0.45 | Inf [0.14‐Inf] | 2 | 0.31 | 3.73 [0.26–32.07] |
| c.G1328A | 1 | 0 | 0.45 | Inf [0.14‐Inf] | 0 | 0.12 | Inf [0.83‐Inf] |
Abbreviations: AC: allele account; CI, confidence interval; EAS, East Asian; GnomAD, Genome Aggregation Database; HCs: healthy controls; Inf: Infinity; NA: not available; neuro: neurologic disease; OR, odds ratio.
a
GnomAD_EAS_non_neuro included 6708 WES data and 780 WGS data.