Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_003019.5:c.92T>C | 79 | 0.41 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
600807.G.1.2 | Lebanon | Study on 223 Lebanese control subjects. 64 heterozygotes and 23 homozygotes |