Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
Mediterranean NM_001360016.2:c.563C>T | 84 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
300908.G.6.2 | United Arab Emirates | Female | Yes | Group of 26 families with 17 unaffected heterozygous females |