Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.4:c.1706-2A>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.23.1 | Arab | Premature coronary artery atherosclerosis; Hypertension; Hypercholesterolemia | Male | Yes | Proband | |
| 143890.23.2 | Arab | Hypercholesterolemia | Female | Yes | Wife of 143890.23.1 | |
| 143890.23.3 | Arab | Hypercholesterolemia; Diabetes mellitus | Female | Yes | Daughter of 143890.23.1 | |
| 143890.23.4 | Arab | Hypercholesterolemia | Female | Yes | Daughter of 143890.23.1 | |
| 143890.23.5 | Arab | Hypercholesterolemia | Female | Yes | Daughter of 143890.23.1 | |
| 143890.23.6 | Arab | Xanthelasma; Hypercholesterolemia | Male | Yes | Son of 143890.23.1 | |
| 143890.23.7 | Arab | Hypercholesterolemia | Female | Yes | Daughter of 143890.23.1 | |
| 143890.23.8 | Arab | Hypercholesterolemia | Male | Yes | Son of 143890.23.1 |