143890.48

Country

Lebanon

HPO Terms

Hypercholesterolemia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
"Lebanese Allele" NM_000527.4:c.2043C>A1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
143890.48.1LebanonCorneal arcus; Xanthelasma; Tendon xanthomatosis; Tuberous xanthoma; Hypercholesterolemia; Respiratory distress; Angina pectorisFemaleYesYesProband
143890.48.2LebanonPremature coronary artery atherosclerosis; HypercholesterolemiaMaleYesFather of 143890.48.1
143890.48.3LebanonHypercholesterolemiaFemaleYesYesSister of 143890.48.1
143890.48.4LebanonHypercholesterolemiaFemaleYesYesSister of 143890.48.1
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