Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000506.4:c.*97G>A | 14 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
188055.G.1.1 | Lebanon | Deep venous thrombosis | 16 patients out of a total of 40 with deep vein thrombosis; 6 homozygotes and 8 heterozygotes |