Table 7.
Main candidate variants associated with Baka Pygmies’ short stature
| Gene | SNP ID | Localization | MAF (Baka Pygmies) | MAF (African) | Frequency difference |
|---|---|---|---|---|---|
| SHISA5 | rs3135955 | 3′-UTR | 0.570 | 0.130 | 0.440 |
| HYAL2 | rs7629425 | 5′-UTR | 0.440 | 0.030 | 0.410 |
| ABCC12 | rs9925287 | CDS | 0.620 | 0.300 | 0.320 |
| DIRAS3 | rs11801053 | 3′-UTR | 0.590 | 0.270 | 0.320 |
| DIRAS | rs61736596 | CDS | 0.550 | 0.280 | 0.270 |
| STX3 | rs472177 | 5′-UTR | 0.650 | 0.480 | 0.170 |
| PLA2G4C | rs9226 | 3′-UTR | 0.650 | 0.500 | 0.150 |
| DBT | rs12021720 | CDS | 0.320 | 0.250 | 0.070 |
| GPR116 | rs572248 | CDS | 0.620 | 0.550 | 0.070 |
For each SNPs validated by Fluidigm 48 × 48 access array enrichment system, the genes localizations and MAF frequencies between Baka and African populations are indicated