| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000376.3:c.1056T>C | 290 | 0.39 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601769.G.2.1 | Lebanon | Group of healthy individuals including 69 homozygotes and 180 heterozygotes | ||||
| 601769.G.2.2 | Lebanon | Group of healthy individuals including 15 homozygotes and 89 heterozygotes | ||||
| 601769.G.2.3 | Lebanon | Group of healthy individuals including 128 homozygotes and 178 heterozygotes |