Table 2.
Association results of SLC30A10 Thr95Ile with selected ICD10 diagnosis codes.
| Association with SLC30A10 Thr95Ile | ||||||||||
| Diagnosis | p | sig. | N cases | Prevalence | N cases (carriers) | Prevalence (carriers) | N cases expected (carriers) | OR | 95% CI | |
| C24.0: Malignant neoplasm of extrahepatic bile duct | 2.21E−09 | *** | 148 | 0.04% | 8 | 0.80% | 0.4 | 18.2 | 7.4 | 44.7 |
| C22.1: Intrahepatic bile duct carcinoma | 6.22E−06 | ** | 424 | 0.10% | 8 | 0.80% | 1.0 | 6.9 | 3.1 | 15.5 |
| K83.0: Cholangitis | 1.64E−05 | * | 1297 | 0.32% | 13 | 1.30% | 3.2 | 3.4 | 1.8 | 6.6 |
| K83.1: Obstruction of bile duct | 1.12E−04 | * | 1585 | 0.39% | 13 | 1.30% | 3.9 | 2.7 | 1.4 | 5.3 |
| D50.9: Iron deficiency anemia, unspecified | 9.86E−04 | * | 14,687 | 3.60% | 55 | 5.49% | 36.0 | 1.7 | 1.3 | 2.3 |
| K81.0: Acute cholecystitis | 1.50E−03 | * | 2270 | 0.56% | 14 | 1.40% | 5.6 | 2.8 | 1.6 | 4.8 |
| D50: Iron deficiency anemia | 4.02E−03 | * | 20,073 | 4.92% | 69 | 6.89% | 49.2 | 1.5 | 1.1 | 1.9 |
P values are from SAIGE analysis; effect size estimates are from PLINK analysis (exponentiated betas from logistic regression). (***) indicates genome-wide significance p < 5 × 10−8; (**) indicates phenome-wide significance of p < 1.1 × 10−5; (*) indicates nominal significance of p < 0.05. Case counts are all limited to the White British subpopulation (N = 408,160), the only subpopulation with a substantial number of carriers (N = 1001). Source data for this figure are in Supplementary Data 7.