Genotype–phenotype associations identified from PheWAS after correcting multiple testing by FDR (P<8.57e-05)
| Phecode | Description | SNP_risk allele* | Allele frequency | Total (n) | Cases (n) | OR (95% CI) | P† |
| 274.1 | Gout | rs2231142_T | 0.11 | 119 555 | 1003 | 1.89 (1.69 to 2.12) | 5.41e-28 |
| 275.1 | Disorders of iron metabolism | rs1165151_G | 0.45 | 119 063 | 205 | 3.56 (2.78 to 4.56) | 1.41e-23 |
| 244.4 | Hypothyroidism | rs653178_C | 0.48 | 118 821 | 4146 | 1.21 (1.16 to 1.27) | 3.90e-17 |
| 246 | Disorders of thyroid | rs653178_C | 0.48 | 119 601 | 4926 | 1.18 (1.14 to 1.23) | 8.82e-16 |
| 274.1 | Gout | rs12498742_A | 0.23 | 118 960 | 1002 | 1.54 (1.37 to 1.74) | 7.94e-13 |
| 275.1 | Disorders of iron metabolism | rs742132_A | 0.29 | 119 271 | 205 | 2.80 (2.10 to 3.74) | 3.13e-12 |
| 401 | Hypertensive disease | rs653178_C | 0.48 | 119 762 | 23 634 | 1.06 (1.04 to 1.09) | 1.68e-08 |
| 401.1 | Essential hypertension | rs653178_C | 0.48 | 119 688 | 23 560 | 1.06 (1.04 to 1.09) | 2.00e-08 |
| 411.4 | Coronary atherosclerosis | rs653178_C | 0.48 | 119 460 | 9526 | 1.09 (1.05 to 1.12) | 1.27e-07 |
| 411 | Ischaemic heart disease | rs653178_C | 0.48 | 119 401 | 9467 | 1.09 (1.05 to 1.12) | 1.33e-07 |
| 211 | Benign neoplasm of digestive system | rs11264341_C | 0.43 | 117 030 | 1504 | 0.83 (0.77 to 0.89) | 2.41e-07 |
| 274.1 | Gout | rs1260326_T | 0.39 | 119 555 | 1003 | 1.26 (1.15 to 1.38) | 3.86e-07 |
| 459.9 | Circulatory disease | rs653178_C | 0.48 | 119 677 | 39 142 | 1.05 (1.03 to 1.06) | 2.24e-06 |
| 411.2 | Myocardial infarction | rs653178_C | 0.48 | 113 559 | 3625 | 1.12 (1.07 to 1.18) | 2.80e-06 |
| 557.1 | Coeliac disease | rs1165151_G | 0.45 | 99 783 | 549 | 1.33 (1.18 to 1.51) | 4.30e-06 |
| 557.1 | Coeliac disease | rs653178_C | 0.48 | 99 965 | 550 | 1.31 (1.16 to 1.48) | 9.28e-06 |
| 427.2 | Atrial fibrillation and flutter | rs6598541_A | 0.35 | 113 261 | 4333 | 1.11 (1.06 to 1.16) | 9.92e-06 |
| 960 | Poisoning by antibiotics | rs1165151_G | 0.45 | 112 343 | 1027 | 0.82 (0.75 to 0.90) | 1.22e-05 |
| 535 | Gastritis and duodenitis | rs478607_G | 0.15 | 115 386 | 5233 | 1.12 (1.07 to 1.19) | 1.34e-05 |
| 411.3 | Angina pectoris | rs653178_C | 0.48 | 114 967 | 5033 | 1.09 (1.05 to 1.14) | 3.01e-05 |
| 669 | Complications of labour and delivery | rs729761_G | 0.28 | 113 240 | 2376 | 1.17 (1.09 to 1.26) | 3.78e-05 |
| 272.11 | Hypercholesterolaemia | rs1260326_T | 0.39 | 118 921 | 10 201 | 1.07 (1.03 to 1.10) | 3.82e-05 |
| 366 | Cataract | rs6770152_G | 0.43 | 116 218 | 4567 | 1.09 (1.05 to 1.14) | 4.14e-05 |
| 471 | Nasal polyps | rs10821905_A | 0.17 | 112 745 | 983 | 1.26 (1.13 to 1.40) | 4.61e-05 |
| 454.1 | Varicose veins of lower extremity | rs2231142_T | 0.11 | 111 390 | 3204 | 0.84 (0.78 to 0.92) | 5.79e-05 |
| 401 | Hypertensive disease | rs2079742_T | 0.13 | 115 659 | 22 832 | 1.07 (1.03 to 1.10) | 7.00e-05 |
| 401.1 | Essential hypertension | rs2079742_T | 0.13 | 115 588 | 22 761 | 1.07 (1.03 to 1.10) | 7.02e-05 |
*Effect allele was harmonised to be the SUA-raising allele defined by Köttgen et al.25
†Significance threshold of P<8.57e-05 corresponds to an FDR of q<0.05 after correcting the multiple testing.
FDR, false discovery rate; PheWAS, phenome-wide association study; SUA, serum uric acid.