| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001553.3:c.830-1G>A | 4 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614224.G.2 | United Arab Emirates | Retinal arterial macroaneurysms | Yes | Yes | 17 patients (11males; 6 females) from seven families. | |
| 614224.G.3 | United Arab Emirates | Retinal arterial macroaneurysms | Yes | Yes | Five patients (1 male; 4 females) from 'family 004' in the publication. Pseudodominant inheritance is noted in this family. | |
| 614224.G.4 | United Arab Emirates | Male | One out of 300 controls. This individual is likely a carrier as he had the c.830-1G>A IGFBP7 mutation on the same disease haplotype as the patients from the same publication. |