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 |
|---|---|---|---|---|---|---|
| 143890.22.01 | Arab | Premature coronary artery atherosclerosis; Hypertension; Hypercholesterolemia | Male | Yes | Proband | |
| 143890.22.02 | Arab | Hypercholesterolemia | Female | Yes | Wife of 143890.22.01 | |
| 143890.22.03 | Arab | Hypercholesterolemia | Female | Yes | Daughter of 143890.22.01 | |
| 143890.22.05 | Arab | Xanthelasma; Hypercholesterolemia | Male | Yes | Son of 143890.22.01 | |
| 143890.22.06 | Arab | Atherosclerosis | Male | Yes | Son of 143890.22.01 | |
| 143890.22.07 | Arab | Atherosclerosis | Male | Yes | Son of 143890.22.01 | |
| 143890.22.08 | Arab | Atherosclerosis | Male | Yes | Son of 143890.22.01 | |
| 143890.22.09 | Arab | Hypercholesterolemia | Male | Yes | Son of 143890.22.01 | |
| 143890.22.10 | Arab | Atherosclerosis | Female | Yes | Daughter of 143890.22.01 |