Rare Genetic Disorders: annotated variants, page 2 of 2
128 variants, 100 per page, sorted by gene. Each link opens the variant page with its genotype frequencies and references.
- rs72556288 (OTC)
- rs72556293 (OTC)
- rs72556301 (OTC)
- rs72558416 (OTC)
- rs72558417 (OTC)
- rs72558427 (OTC)
- rs72558449 (OTC)
- rs72558454 (OTC)
- rs72558462 (OTC)
- rs72558473 (OTC)
- rs72558478 (OTC)
- rs5030847 (PAH)
- rs5030850 (PAH)
- rs5030853 (PAH)
- rs5030858 (PAH)
- rs5030861 (PAH)
- rs112563513 (RYR1)
- rs118192161 (RYR1)
- rs118192166 (RYR1)
- rs118192168 (RYR1)
- rs118192177 (RYR1)
- rs121918593 (RYR1)
- rs104894729 (TNNI3)
- rs11541790 (TTR)
- rs28933979 (TTR)
- rs121918071 (TTR)
- rs121918074 (TTR)
- rs121918094 (TTR)