Table 1. G6PD variants in the DALIA database.
| Variant | HGVS nomenclature | ACMG Classification | Evidence | ExAC | Q1005 | GME | 1000 Genomes |
|---|---|---|---|---|---|---|---|
| rs5030868 | NM_001042351.1:c.563C>T | Pathogenic | PP3, BS2, PP5, PS3, PP1-M, PM1 | EXAC-ALL: 0.003 EXAC-AMR: 0.001 EXAC-EAS: 0 EXAC-FIN: 0 EXAC-NFE:0.001 EXAC-OTH: 0.011 EXAC-SAS: 0.016 |
QALL: 0.042 QAFR: 0.061 QARAB: 0.004 QBED: 0.032 QPER: 0.079 QSAS: 0.122 |
GME-ALL: 0.024 GME-AP: 0.077 GME-CA:0.042 GME-Israel:0 GME-NEA: 0.008 GME-NWA:0 GME-SD:0.018 GME-TP:0.008 |
1KG-ALL: 0.001 1KG-AFR: 0 1KG-AMR: 0 1KG-EAS: 0 1KG-EUR: 0 1KG-SAS: 0.004 |
| rs76645461 | NM_000402.3:c.233T>C | Likely pathogenic | PP3, PP5, PS3, PM1 | EXAC-ALL: 0 EXAC-AMR: 0 EXAC-EAS: 0 EXAC-FIN: 0 EXAC-NFE: 0 EXAC-OTH: 0 EXAC-SAS: 0 |
QALL: 0.004 QAFR: 0.014 QARAB: 0.004 QBED: 0.004 QPER: 0 QSAS: 0 |
GME-ALL: 0.003 GME-AP: 0.012 GME-CA: 0 GME-Israel: 0 GME-NEA: 0.003 GME-NWA: 0 GME-SD: 0 GME-TP: 0 |
1KG-ALL: 0 1KG-AFR: 0 1KG-AMR: 0 1KG-EAS: 0.001 1KG-EUR: 0 1KG-SAS: 0 |
| rs5030869 | NM_001360016.2:c.1003G>T | Likely pathogenic | PP3, PP5, PS3, PM1 | EXAC_ALL: 0.0002 EXAC_AFR: 0 EXAC_AMR: 0.0001 EXAC_EAS: 0.0001 EXAC_FIN: 0 EXAC_NFE: 0.0001 EXAC_OTH: 0.001 EXAC_SAS: 0.0006 |
QALL: 0.00 QAFR: 0.00 QARAB: 0.00 QBED: 0.00 QPER: 0.01 QSAS: 0.00 |
GME_ALL: 0.00 GME_NWA: 0.00 GME_NEA: 0.00 GME_AP: 0.01 GME_Israel: 0.00 GME_SD: 0.00 GME_TP: 0.00 GME_CA: 0.01 |
|
| rs2515904 | NM_000402.3:c.576-60C>G | Benign | PP5, BS1, BS2 | QALL: 0.03 QAFR: 0.19 QARAB: 0.00 QBED: 0.00 QPER: 0.00 QSAS: 0.00 |
1KG-ALL: 0.05 1KG-AFR: 0.17 1KG-AMR: 0.01 1KG-EAS: 0.00 1KG-EUR: 0.00 1KG-SAS: 0.00 |
||
| rs5030872 | NM_001360016.2:c.542A>T | Likely pathogenic | BP4, PP5, PS3, PM1 | EXAC_ALL: 0.00 EXAC_AFR: 0.00 EXAC_AMR: 0.00 EXAC_EAS: 0.00 EXAC_FIN: 0.00 EXAC_NFE: 0.00 EXAC_OTH: 0.00 EXAC_SAS: 0.00 |
GME_ALL: 0.00 GME_NWA: 0.01 GME_NEA: 0.00 GME_AP: 0.00 GME_Israel: 0.00 GME_SD: 0.00 GME_TP: 0.00 GME_CA: 0.00 |
||
| rs137852339 | NM_001360016.2:c.949G>A | Likely pathogenic | BP4, PP5, PS3, PP1-M, PM1 | EXAC_ALL: 0.00 EXAC_AFR: 0.00 EXAC_AMR: 0.00 EXAC_EAS: 0.00 EXAC_FIN: 0.00 EXAC_NFE: 0.00 EXAC_OTH: 0.00 EXAC_SAS: 0.01 |
QALL:0.01 QAFR:0.00 QARAB:0.00 QBED:0.01 QPER:0.00 QSAS:0.00 | GME_ALL: 0.00 GME_NWA: 0.00 GME_NEA: 0.00 GME_AP: 0.00 GME_Israel: 0.00 GME_SD: 0.00 GME_TP: 0.00 GME_CA: 0.00 |
1KG-ALL: 0.00 1KG-AFR: 0.00 1KG-AMR: 0.00 1KG-EAS: 0.00 1KG-EUR: 0.00 1KG-SAS: 0.01 |
The table contains all population and subpopulation allele frequencies associated with the four G6PD variants of statistical significance (p-value <0.01) present in the DALIA database as well as the pathogenic variants from other databases included in the heatmap. Note: For GME populations, the allele frequency has been calculated only for women.