| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198353.2:c.961+94716G>A | NA | 0.81 | ||
| NM_198353.2:c.961+67621C>A | NA | 0.69 | ||
| NM_198353.2:c.961+36643G>A | NA | 0.78 | ||
| NC_000004.12:g.45873582= | NA | 0.63 | ||
| NM_173536.3:c.253+3487C>T | NA | NA | ||
| NC_000004.12:g.46174811G>A | NA | NA | ||
| NM_000807.4:c.256-3190G>T | NA | NA | ||
| NM_130902.2:c.-105+23061T>C | NA | NA | ||
| NM_000809.4:c.875-804A>G | NA | NA | ||
| NM_000812.3:c.241-60273C>G | NA | 0.57 | ||
| NM_000812.3:c.241-53906= | NA | 0.57 | ||
| NM_001330069.1:c.265-35758T>C | NA | 0.26 | ||
| NM_001330069.1:c.265-77429A>C | NA | 0.21 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 125853.G.35.2 | United Arab Emirates | Type II diabetes mellitus | Replication sample group comprising 315 unrelated individuals of Arab origin (116 diabetic, 199 healthy). Replication of association for type 2 diabetes was observed at COX7B2 (rs7679715), GABRA4 (rs2055942), and KCTD8 (rs4695718). Replication of association at PRKD1 (rs1953722 as a proxy for rs10144903) was observed after adjustment for age and sex. |