| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000376.3:c.1056T>C | 70 | NA | ||
| NM_000376.2:c.1024+283G>A | 78 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 125853.G.43.1 | United Arab Emirates | Type II diabetes mellitus | Study with 264 unrelated T2DM patients (130 females and 134 males). AG and GG gentope of rs2228570 and TT genotype of rs1544410 showed significant association with T2DM. AG and GG genotypes of rs731236 had significant association with higher total cholesterol and LDL-cholesterol levels in T2DM patients. TT genotype of rs1544410 showed association with lower LDL-cholesterol level in T2DM patients. |