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Distribution of 19 pathogenic and 27 benign variants in relation to position of defined RYR1/MH hotspots. Likelihood ratios calculated based on distribution.
| Presence in HotSpot |
Pathogenic | Benign | Likelihood ratio (LR) | Inverse LR | 95% CI (inverse) |
|---|---|---|---|---|---|
| HotSpot (1-552; 2101-2458; 4631-4991) | 16 | 1a | 23.58 | 3.41-163.18 | |
| Non-HotSpot | 3 | 27 | 0.164 | 6.10 | 0.06-0.46 (2.17-16.7) |
No benign variants were identified in the hotspot regions, for calculation of LR we used a value of 1.
