No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000686.5:c.*501A>C | 94 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
300034.G.1.2 | Lebanon | No | Healthy control group of 132 first-degree family relatives. Subject genotypes: 25 (CC), 34 (CA), 19 (AA). Genotyping identified a single base for 54 patients; 31 with C allele & 23 with A allele. |