Table 2.
Carrier frequencies of the top 15 diseases in the 2,836 Han Chinese individuals without a family history
| Disease | Number | Carrier frequency (%) | 1 in_ |
|---|---|---|---|
| Citrin deficiency | 111 | 3.91 | 26 |
| GJB2‐related nonsyndromic hearing loss | 106 | 3.74 | 27 |
| Krabbe disease | 80 | 2.82 | 36 |
| Usher syndrome type 2A | 76 | 2.68 | 38 |
| Alpha‐thalassemia | 66 | 2.33 | 43 |
| Wilson disease | 66 | 2.33 | 43 |
| Pendred syndrome | 63 | 2.22 | 46 |
| Phenylalanine hydroxylase (PAH) deficiency (including PKU) | 55 | 1.94 | 52 |
| Oculocutaneous albinism, types 1A, 1B, 2, and 4 | 54 | 1.90 | 53 |
| Congenital disorder of glycosylation | 52 | 1.83 | 55 |
| Systemic primary carnitine deficiency | 44 | 1.55 | 65 |
| CYP1B1‐related glaucoma | 40 | 1.41 | 71 |
| Spinal muscular atrophy (SMA) | 34 | 1.20 | 84 |
| Polycystic kidney disease, autosomal recessive type | 32 | 1.13 | 89 |
| Usher syndrome type 1 | 32 | 1.13 | 89 |