Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000506.4:c.*97G>A | 56 | 0.397 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
188050.G.3.2 | Lebanon | 192 Lebanese controls; 28 heterozygotes, 1 homozygote |