Table 1.
The most prevalent pathogenic variations carried in the Saudi population, with the minor allele frequency obtained from Saudi Human Genome Project database (dbSNP) and the King Abdullah International Medical Research Center Genomic Database (KGD), and compared with the Genome Aggregation Database (gnomAD).
| Disorder | Gene | Disease associated | dbSNP | CDNA | KGD | SHGP db | GnomAD |
|---|---|---|---|---|---|---|---|
| Hematology | MPL | Thrombocytopenia | rs750046020 | c.317C>T | 2.46% | 2.96% | 0.01% |
| SPTA1 | Spherocytosis | rs377659326 | c.5263C>G | 1.31% | 0.72% | 0.00% | |
| HBB | Sickle cell anemia | rs334 | c.20A>T | 0.85% | 2.34% | 0.44% | |
| G6PD | Hemolytic anemia, G6PD deficient | rs5030868 | c.653C>T | 1.08% | 2.60% | 0.23% | |
| Endocrine | CYP21A2 | Congenital adrenal hyperplasia | rs7755898 | c.955C>T | 1.85% | 0.00% | 0% |
| rs776989258 | c.1447C>T | 0.85% | 1.11% | 0.05% | |||
| Metabolic | C6 | C6 deficiency | rs867425110 | c.2049C>G | 1.15% | 0.54% | 0% |
| ACY1 | Aminoacylase 1 deficiency | rs770702363 | c.575dupG | 0.85% | 0.88% | 0.01% | |
| ABCG5 | Sitosterolemia 2 | rs199689137 | c.1336C>T | 0.77% | 0.51% | 0.02% | |
| Immunology disorder | NCF1 | Chronic granulomatous disease | rs145360423 | c.579G>A | 1.00% | 0.42% | 0.06% |
| Otolaryngology | BDP1 | Deafness | rs199721728 | c.7873T>G | 1.00% | 2.44% | 0.08% |
| Ophthalmology | CYP1B1 | Glaucoma | rs28936700 | c.182G>A | 1.31% | 2.51% | 0.03% |
| Multisystem | LZTFL1 | Bardet-Biedl syndrome | rs1354476372 | c.3G>A | 1.00% | 0.33% | 0.00% |
Minor allele frequency calculated for the KGD sample size.