Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002075.4:c.825= | 80 | 0.61 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
139130.G.1.2 | United Arab Emirates | Study with 98 LVH subjects- 40 were heterozygous for the 'C' allele (allele frequency- 0.61). Subjects with a 'CC' genotype were significantly associated with LVH compared to the CT or TT genotypes (p value=0.0445) | ||||
139130.G.1.3 | United Arab Emirates | Study with 98 left ventricular hypertrophy (LVH) subjects- 18 subjects were homozygous for the T allele. (allele frequency=0.38) Subjects with a 'CC' genotype were significantly associated with LVH compared to the CT or TT genotypes (p value=0.0445) | ||||
139130.G.1.4 | United Arab Emirates | Control group of 115 subjects with no LVH- 28 were homozygous for the C allele. (allele frequency=0.50) | ||||
139130.G.1.5 | United Arab Emirates | Control group of 115 subjects with no LVH- 60 subjects were heterozygous for the C allele. (allele frequency=0.50) | ||||
139130.G.1.6 | United Arab Emirates | Control group of 115 subjects with no LVH- 25 subjects were homozygous for the T allele. (allele frequency=0.47) |