Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005214.4:c.49A>G | 108 | 0.389 | ||
NC_000011.10:g.2191936C>T | 49 | 0.176 | ||
NM_015967.7:c.2054-852T>C | 180 | 0.648 | ||
NM_015967.7:c.1858= | 15 | 0.054 | ||
NC_000002.12:g.203866366G>A | 122 | 0.439 | ||
NC_000002.12:g.203874196G>A | 130 | 0.468 | ||
NC_000002.12:g.203876827G>A | 73 | 0.263 | ||
NC_000010.11:g.6068912C>A | 166 | 0.597 | ||
NC_000010.11:g.6081532C>T | 119 | 0.428 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
222100.G.5.2 | United Arab Emirates | 171 healthy controls |