Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000039.2:c.-75= | 12 | 0.24 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
145500.G.12.2 | United Arab Emirates | Hypertension | Study with 82 hypertensive patients - 27 were hetrozygous for 'A' allele (allele frequency = 0.24 ± 0.03). Patients with AA genotype had significantly higher systolic and diastolic blood pressure values compared to AG or GG genotype. | |||
145500.G.12.3 | United Arab Emirates | Control group consisting of 80 normotensive subjects. Six subjects were homozygous for 'A' allele (allele frequency = 0.18 ± 0.03). | ||||
145500.G.12.4 | United Arab Emirates | Control group consisting of 80 normotensive subjects. 16 subjects were hetrozygous for 'A' allele (allele frequency = 0.18 ± 0.03). |