| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005214.4:c.49A>G | 66 | 0.193 | ||
| NC_000011.10:g.2191936C>T | 54 | 0.158 | ||
| NM_015967.7:c.2054-852T>C | 148 | 0.433 | ||
| NM_015967.7:c.1858= | 3 | 0.009 | ||
| NC_000002.12:g.203866366G>A | 176 | 0.515 | ||
| NC_000002.12:g.203874196G>A | 189 | 0.553 | ||
| NC_000002.12:g.203876827G>A | 69 | 0.202 | ||
| NC_000010.11:g.6068912C>A | 215 | 0.629 | ||
| NC_000010.11:g.6081532C>T | 56 | 0.164 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 222100.G.5.1 | United Arab Emirates | Type I diabetes mellitus | 139 patients with Type I diabetes. Significant association found with rs131081(G allele), rs2476601(AG genotype), rs231775(G allele), and rs1225130(T allele) |