Table 4.
Top hits identified in GWAS of PheML-imputed affected and control individuals
| rsID | Ancestry | Chr. | Position | Ref. | Alt. | Beta (95% CI) | p value | Nearest gene | Location | Replicating analysis (p < 0.05) | Replicating beta | Replicating p value |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs12613255 | EUR | 2 | 16,628,186 | A | T | 0.323 (0.211, 0.434) | 1.31 × 10−8 | CYRIA | 113 kb 3′ | N/A | N/A | N/A |
| rs7837758 | AFR | 8 | 40,624,542 | C | T | 0.518 (0.331, 0.704) | 5.07 × 10−8 | ZMAT4 | intronic | N/A | N/A | N/A |
| rs10872381 | EAS | 6 | 131,706,657 | C | T | 0.803 (0.512, 1.093) | 6.38 × 10−8 | AKAP7 | 102 kb 3′ | N/A | N/A | N/A |
| rs115024493 | AFR | 12 | 91,973,678 | G | A | 0.376 (0.239, 0.512) | 6.85 × 10−8 | DCN | 397 kb 5′ | N/A | N/A | N/A |
| rs78072807 | AFR | 1 | 237,682,933 | T | C | 0.371 (0.235, 0.507) | 8.73 × 10−8 | RYR2 | intronic | N/A | N/A | N/A |
| rs10464899 | AFR | 8 | 60,209,436 | A | G | 0.216 (0.135, 0.296) | 1.51 × 10−7 | TOX | 178 kb 5′ | ISP | 0.138 (0.038, 0.238) | 7.21 × 10−3 |
| rs2997903 | AFR | 9 | 131,599,311 | G | A | 0.308 (0.188, 0.429) | 5.32 × 10−7 | KYAT1 | intronic | EUR | 0.086 (0.018, 0.015) | 1.27 × 10−2 |
| rs6981922 | AFR | 8 | 60,219,451 | T | A | 0.197 (0.119, 0.276) | 9.35 × 10−7 | TOX | 188 kb 5′ | ISP, EAS | 0.109 (0.099,0.119), 0.372 (0.021, 0.723) | 3.21 × 10−2, 3.79 × 10−2 |
| rs6415726 | HIS | 9 | 16,247,629 | G | A | 0.730 (0.438, 1.022) | 9.61 × 10−7 | C9orf92 | intronic | ISP | 0.223 (0.105, 0.341) | 2.17 × 10−4 |
| rs8013614 | EUR | 14 | 36,425,517 | C | G | −0.120 (−0.170, −0.071) | 1.59 × 10−6 | BRMS1L | 84 kb 5′ | AFR | −0.091 (−0.171, −0.011) | 2.62 × 10−2 |
| rs34456770 | AFR | 16 | 126,219 | G | A | 0.256 (0.114, 0.399) | 1.87 × 10−6 | MPG | 797 bp 5′ | ISP | 0.349 (0.070, 0.628) | 1.41 × 10−2 |
| rs10036373 | EUR | 5 | 23,909,919 | G | A | 0.097 (0.057, 0.137) | 2.26 × 10−6 | C5orf17 | 42 kb 5′ | ISP | 0.104 (0.007, 0.201) | 3.61 × 10−2 |
The table includes sentinel variants from loci that exceeded p values of 1 × 10−7, as well as any variants that exceeded 5 × 10−6 and that were replicated in a separate analysis. EUR, AFR, EAS, and HIS refer to association results from samples of European, African, East Asian, and Hispanic ancestry, respectively. ISP indicates variant results from the International Stuttering Project stuttering GWAS (see methods). "Ref." refers to the reference allel, and "Alt." refers to the alternative allele the association analysis was conditioned on.