Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000376.3:c.1025-49G>T | 0.385 | |||
NM_024514.5:c.177C>T | 0.40 | |||
NM_000376.3:c.2T>G | 0.235 | |||
NM_000376.2:c.1024+283= | 0.418 | |||
NM_000583.3:c.1296T>A | 0.377 | |||
NM_000583.3:c.1307C>A | 0.163 | |||
NM_000376.2:c.1056= | 0.393 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
600807.G.2.1 | United Arab Emirates | Asthma; Moderate; Severe | 33 moderate to severe asthmatics. rs7975232 associated with severe asthma | |||
600807.G.2.2 | United Arab Emirates | Asthma; Mild | 79 mild asthmatics |