Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000106.6:c.100C>T | ||||
NM_000106.6:c.1457G>C | ||||
NM_000106.5:c.886C>T | ||||
NM_000106.6:c.1012G>A |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
608902.G.1.1 | United Arab Emirates | 151 UAE nationals | ||||
608902.G.1.2 | United Arab Emirates | Subset of 608902.G.1.1. Number of subjects unknown. | ||||
608902.G.1.3 | United Arab Emirates | Subset of 608902.G.1.1. Number of subjects unknown. | ||||
608902.G.1.5 | United Arab Emirates | Subset of 608902.G.1.1. Number of subjects unknown. | ||||
608902.G.1.6 | United Arab Emirates | Subset of 608902.G.1.1. Number of subjects unknown. |