| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198353.2:c.961+94716G>A | NA | NA | ||
| NM_198353.2:c.961+67621C>A | NA | NA | ||
| NM_198353.2:c.961+36643G>A | NA | NA | ||
| NC_000004.12:g.45873582= | NA | NA | ||
| NM_173536.3:c.253+3487C>T | NA | NA | ||
| NM_000807.4:c.256-3190G>T | NA | NA | ||
| NM_130902.2:c.-105+23061T>C | NA | NA | ||
| NM_000809.4:c.875-804A>G | NA | NA | ||
| NM_000812.3:c.241-53906= | NA | NA | ||
| NM_001330069.1:c.265-35758T>C | NA | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 125853.G.35.1 | Arab | Type II diabetes mellitus | Discovery GWAS group comprising 178 individuals (66 diabetic; 112 healthy) from an extended UAE family of 319 members. Top hits for family-based association test were at KCTD8 (rs4407541), GABRB1 (rs10517178/rs1372491), and PRKD1 (rs10144903). GenABEL analyses showed association at intergenic region between GABRG1 and GABRA2 (rs7662743), KCTD8 (rs4407541), GABRB1 (rs10517178/rs1372491), and PRKD1 (rs10144903). |