Table 1.
Summary statistics of selected copy number variants
| CN gain |
CN loss |
||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reported gene |
Trait | Chr. | Asian | CHB | JPT | KOR | CEPHa | YRIa | Asian | CHB | JPT | KOR | CEPHa | YRIa | PMID |
| ADAMTS14 | Multiple sclerosis | 10 | 3 | 1 | 2 | 0 | – | – | 0 | 0 | 0 | 0 | – | – | 15913795 |
| CCL4 | Type 1 diabetes mellitus | 17 | 4 | 0 | 2 | 2 | – | – | 0 | 0 | 0 | 0 | – | – | 17327452 |
| CES1 | Lipid metabolism | 16 | 10 | 3 | 5 | 2 | 46 | 4 | 0 | 0 | 0 | 0 | 0 | 0 | 19332024 |
| CLPS | Type 2 diabetes mellitus | 6 | 10 | 5 | 1 | 4 | – | – | 0 | 0 | 0 | 0 | – | – | 18726866 |
| FOXC1 | Congenital glaucoma and aniridia | 6 | 4 | 1 | 0 | 3 | – | – | 0 | 0 | 0 | 0 | – | – | 18484311 |
| HYLS1 | Hydrolethalus syndrome | 11 | 4 | 1 | 3 | 0 | – | – | 0 | 0 | 0 | 0 | – | – | 18648327 |
| IRF4 | Hair and skin pigmentation, lymphoma | 6 | 11 | 3 | 3 | 5 | – | – | 0 | 0 | 0 | 0 | – | – | 18483556 |
| IRX1 | Myopia, head and neck squamous-cell carcinoma | 5 | 5 | 0 | 2 | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 18559491 |
| KRT34 | Urothelial carcinoma | 17 | 3 | 0 | 1 | 2 | 177 | 178 | 0 | 0 | 0 | 0 | 0 | 0 | 16286979 |
| LPA | Myocardial infarction | 6 | 24 | 8 | 6 | 10 | – | – | 0 | 0 | 0 | 0 | – | – | 19509380 |
| NBAS | Neuroblastoma | 2 | 6 | 2 | 2 | 2 | – | – | 0 | 0 | 0 | 0 | – | – | 12706883 |
| NBEA | Autism | 13 | 3 | 1 | 2 | 0 | – | – | 0 | 0 | 0 | 0 | – | – | 12746398 |
| PIK3CA | Small-cell lung cancer, | 3 | 9 | 4 | 3 | 2 | – | – | 0 | 0 | 0 | 0 | – | – | 19394761 |
| PITX1 | Non–small-cell lung cancer | 5 | 5 | 0 | 2 | 3 | – | – | 0 | 0 | 0 | 0 | – | – | 19414376 |
| SKI | Pancreatic cancer | 1 | 3 | 1 | 1 | 1 | – | – | 0 | 0 | 0 | 0 | – | – | 19546161 |
| TPPP | Central nervous system disease | 5 | 1 | 0 | 1 | 0 | – | – | 0 | 0 | 0 | 0 | – | – | 19382230 |
| CFH | Age-related macular degeneration | 1 | 0 | 0 | 0 | 0 | – | – | 6 | 4 | 2 | 0 | – | – | 19692124 |
| CNR2 | Osteoporosis | 1 | 0 | 0 | 0 | 0 | 3 | 0 | 5 | 0 | 3 | 2 | 0 | 0 | 19442614 |
| DAZL | Spermatogenesis | 3 | 0 | 0 | 0 | 0 | – | – | 27 | 7 | 10 | 10 | – | – | 15066460 |
| GHR | Growth | 5 | 0 | 0 | 0 | 0 | 0 | 0 | 5 | 3 | 0 | 2 | 82 | 134 | 18793346 |
| GSTT2 | Colorectal cancer | 22 | 0 | 0 | 0 | 0 | 158 | 121 | 4 | 3 | 0 | 1 | 0 | 0 | 17250773 |
| LY9 | Systemic lupus erythematosus | 1 | 0 | 0 | 0 | 0 | – | – | 6 | 4 | 2 | 0 | – | – | 18216865 |
| PGA3,4,5 | Duodenal ulcer, gastric cancer | 11 | 0 | 0 | 0 | 0 | 0 | 0 | 28 | 10 | 9 | 9 | 4 | 0 | 17559360 19196398 |
| PRSS2 | Pancreatitis | 7 | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 1 | 0 | 2 | 112 | 48 | 19052022 |
| CEL | Lipid metabolism | 9 | 6 | 2 | 2 | 2 | 6 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 18803939 |
| DMBT1 | Brain tumor | 10 | 6 | 2 | 1 | 3 | 175 | 177 | 9 | 3 | 2 | 4 | 2 | 0 | 19207948 |
| EBF3 | Head and neck squamous-cell carcinoma | 10 | 8 | 1 | 4 | 3 | – | – | 1 | 0 | 1 | 0 | – | – | 18559491 |
| IRS2 | Metabolic syndrome | 13 | 8 | 3 | 2 | 3 | 0 | 0 | 1 | 0 | 1 | 0 | 1 | 0 | 18802016 |
| MCTP2 | Schizophrenia | 15 | 1 | 0 | 1 | 0 | 59 | 23 | 17 | 6 | 5 | 6 | 0 | 0 | 19223264 |
| MGAM | Starch absorption | 7 | 2 | 0 | 1 | 1 | 93 | 102 | 4 | 1 | 3 | 0 | 16 | 0 | 17485087 |
| MUC4 | Gastric cancer | 3 | 4 | 0 | 2 | 2 | – | – | 1 | 0 | 1 | 0 | – | – | 18781152 |
| MUC20 | IgA nephropathy | 3 | 5 | 1 | 2 | 2 | – | – | 1 | 0 | 1 | 0 | – | – | 16029633 |
| NAIP | Spinal muscular atrophy | 5 | 3 | 1 | 1 | 1 | – | – | 2 | 1 | 1 | 0 | – | – | 17932457 |
| PRKRA | Dystonia | 2 | 19 | 6 | 6 | 7 | 104 | 35 | 1 | 0 | 0 | 1 | 0 | 0 | 18420150 |
| RHD | Rh blood type | 1 | 2 | 0 | 0 | 2 | 148 | 174 | 3 | 2 | 0 | 1 | 0 | 0 | 10938938 |
Chr., chromosome; CN, copy number; PMID, PubMed unique identifier.
a
CN gains and losses in CEU and YRI data (n = 180 in each) from Conrad et al.2