Table 2.
Trait | SNP rsid | Chr | Position (hg19) | Locus namec | Effect/other alleles | EAF |
N | Unconditioned meta-analysis results |
Conditioned on all known SNPs within 10 Mb region |
UKBB (validation results) |
|||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HISLA | AAAGC | GIANT | Beta | SE | p value | HetISq | Beta | SE | p value | EAF | N | Beta | SE | p value | |||||||
Novel locia | |||||||||||||||||||||
BMI | rs4675117 | 2 | 227769794 | RHBDD1 | T/C | 0.421 | 0.104 | 0.383 | 343,628 | 0.017 | 0.003 | 8.56 × 10−8 | 0 | 0.019 | 0.003 | 2.23 × 10−9 | 0.383 | 336,107 | 0.006 | 0.002 | 1.82 × 10−2 |
BMI | rs9860730 | 3 | 64701146 | ADAMTS9-AS2 | A/G | 0.354 | 0.222 | 0.767 | 428,763 | −0.016 | 0.003 | 1.67 × 10−8 | 0 | −0.015 | 0.003 | 3.80 × 10−8 | 0.712 | 336,107 | −0.008 | 0.003 | 4.54 × 10−3 |
BMI | rs150992 | 5 | 98275197 | CHD1-DT | A/G | 0.778 | 0.645 | 0.700 | 439,077 | 0.018 | 0.003 | 5.40 × 10−10 | 0 | 0.017 | 0.003 | 1.02 × 10−8 | 0.693 | 336,107 | 0.005 | 0.003 | 3.74 × 10−2 |
Height | rs17375290 | 1 | 61334177 | NFIA | A/G | 0.830 | 0.645 | 0.793 | 364,636 | 0.017 | 0.003 | 3.47 × 10−8 | 0 | 0.017 | 0.003 | 3.00 × 10−8 | 0.794 | 336,474 | 0.002 | 0.002 | 4.58 × 10−1 |
Height | rs10737541 | 1 | 168214098 | ANKRD36BP1 | T/G | 0.399 | 0.645 | 0.196 | 319,809 | −0.018 | 0.003 | 1.60 × 10−9 | 0 | −0.018 | 0.003 | 3.16 × 10−10 | 0.226 | 336,474 | −0.004 | 0.002 | 4.37 × 10−2 |
Height | rs4618485 | 6 | 73555917 | KCNQ5 | A/G | 0.750 | 0.645 | 0.592 | 348,626 | 0.014 | 0.003 | 4.72 × 10−8 | 39.2 | 0.018 | 0.003 | 4.34 × 10−12 | 0.604 | 336,474 | 0.003 | 0.002 | 7.02 × 10−2 |
Height | rs17493997 | 8 | 82044302 | PAG1 | C/G | 0.493 | 0.645 | 0.340 | 325,906 | −0.015 | 0.003 | 3.42 × 10−8 | 0 | −0.017 | 0.003 | 2.73 × 10−10 | 0.299 | 336,474 | −0.0003 | 0.002 | 8.56 × 10−1 |
WHRadjBMI (sex combined) | rs16873543 | 6 | 45577134 | RUNX2 | T/C | 0.716 | 0.645 | 0.767 | 209,552 | −0.018 | 0.004 | 3.20 × 10−6 | 0 | −0.022 | 0.004 | 9.65 × 10−9 | 0.724 | 484,563 | −0.008 | 0.002 | 5.50 × 10−4 |
New signals in established locib | |||||||||||||||||||||
BMI | rs10540 | 11 | 494662 | RNH1 | A/G | 0.200 | 0.031 | 0.092 | 470,714 | −0.021 | 0.004 | 1.01 × 10−7 | 0 | −0.023 | 0.004 | 5.75 × 10−9 | 0.135 | 336,107 | −0.007 | 0.004 | 4.16 × 10−2 |
BMI | rs4807179 | 19 | 1956035 | CSNK1G2 | A/G | 0.494 | 0.218 | 0.525 | 309,507 | 0.020 | 0.003 | 2.75 × 10−10 | 0 | 0.018 | 0.003 | 1.52 × 10−8 | 0.632 | 336,107 | 0.014 | 0.002 | 1.06 × 10−8 |
BMI | rs4813428 | 20 | 21451848 | NKX2-2 | T/C | 0.181 | 0.093 | 0.108 | 321,797 | 0.029 | 0.005 | 2.89 × 10−10 | 0 | 0.029 | 0.005 | 1.46 × 10−10 | 0.093 | 336,107 | 0.013 | 0.004 | 2.47 × 10−3 |
Height | rs4912122 | 1 | 19876438 | NKX2-2 | A/G | 0.383 | 0.837 | 0.383 | 334,951 | −0.015 | 0.003 | 6.33 × 10−9 | 0 | −0.019 | 0.003 | 1.45 × 10−13 | 0.350 | 336,474 | −0.012 | 0.002 | 1.58 × 10−11 |
Height | rs4425978 | 1 | 42243878 | HIVEP3 | T/C | 0.389 | 0.189 | 0.580 | 351,587 | 0.014 | 0.003 | 2.14 × 10−8 | 0 | 0.016 | 0.003 | 3.63 × 10−10 | 0.533 | 336,474 | 0.008 | 0.002 | 5.41 × 10−6 |
Height | rs618555 | 1 | 86481084 | COL24A1 | T/C | 0.241 | 0.064 | 0.353 | 320,239 | 0.019 | 0.003 | 5.47 × 10−12 | 0 | 0.016 | 0.003 | 2.90 × 10−8 | 0.311 | 336,474 | 0.008 | 0.002 | 1.67 × 10−5 |
Height | rs6545538 | 2 | 56217900 | MIR216A | A/G | 0.258 | 0.628 | 0.258 | 305,704 | 0.022 | 0.003 | 1.23 × 10−13 | 0 | 0.019 | 0.003 | 2.59 × 10−11 | 0.266 | 336,474 | 0.011 | 0.002 | 1.25 × 10−8 |
Height | rs2741311 | 2 | 233239743 | ALPP | T/C | 0.076 | 0.018 | 0.050 | 463,609 | 0.046 | 0.005 | 1.41 × 10−21 | 49.6 | 0.030 | 0.005 | 4.78 × 10−10 | 0.080 | 336,474 | 0.033 | 0.003 | 2.39 × 10−24 |
Height | rs6935954 | 6 | 26255451 | HIST1H2BH | A/G | 0.306 | 0.103 | 0.408 | 345,378 | 0.042 | 0.003 | 3.06 × 10−59 | 46.5 | 0.018 | 0.003 | 3.29 × 10−12 | 0.425 | 336,474 | −0.027 | 0.002 | 1.10 × 10−54 |
Height | rs6900530 | 6 | 35280971 | DEF6 | T/C | 0.094 | 0.385 | 0.042 | 123,137 | −0.057 | 0.005 | 3.09 × 10−28 | 79.0 | −0.036 | 0.005 | 6.75 × 10−12 | 0.027 | 336,474 | −0.073 | 0.005 | 1.03 × 10−42 |
Height | rs9472006 | 6 | 43067487 | PTK7 | A/G | 0.149 | 0.249 | 0.059 | 212,931 | −0.027 | 0.005 | 4.37 × 10−9 | 0 | −0.034 | 0.005 | 7.04 × 10−14 | 0.041 | 336,474 | −0.013 | 0.004 | 2.86 × 10−3 |
Height | rs3822957 | 6 | 76607280 | MY O 6 | A/G | 0.173 | 0.538 | 0.158 | 279,818 | −0.023 | 0.003 | 4.88 × 10−12 | 84.4 | −0.023 | 0.003 | 3.44 × 10−12 | 0.142 | 336,474 | −0.015 | 0.002 | 1.98 × 10−9 |
Height | rs1342330 | 6 | 144065685 | PHACTR2 | A/T | 0.601 | 0.738 | 0.508 | 353,259 | 0.014 | 0.003 | 1.70 × 10−8 | 0 | 0.017 | 0.003 | 6.95 × 10−12 | 0.520 | 336,474 | 0.006 | 0.002 | 8.84 × 10−4 |
Height | rs6936615 | 6 | 154355100 | OPRM1 | A/G | 0.887 | 0.901 | 0.850 | 415,248 | −0.018 | 0.003 | 2.47 × 10−8 | 0 | −0.020 | 0.003 | 2.33 × 10−9 | 0.830 | 336,474 | −0.003 | 0.002 | 1.73 × 10−1 |
Height | rs991946 | 6 | 166329862 | RP11-252P19.3c | T/C | 0.481 | 0.486 | 0.500 | 379,912 | −0.019 | 0.002 | 1.28 × 10−14 | 36.7 | −0.019 | 0.002 | 9.96 × 10−15 | 0.479 | 336,474 | −0.013 | 0.002 | 3.92 × 10−13 |
Height | rs7816300 | 8 | 109787856 | TMEM74 | T/C | 0.262 | 0.116 | 0.260 | 397,735 | −0.015 | 0.003 | 2.24 × 10−8 | 0 | −0.016 | 0.003 | 5.47 × 10−9 | 0.299 | 336,474 | −0.002 | 0.002 | 3.94 × 10−1 |
Height | rs4520250 | 9 | 88924057 | TUT7 | A/C | 0.235 | 0.069 | 0.433 | 295,945 | 0.015 | 0.003 | 3.80 × 10−8 | 55.9 | 0.016 | 0.003 | 1.48 × 10−8 | 0.339 | 336,474 | 0.010 | 0.002 | 4.36 × 10−8 |
Height | rs7029157 | 9 | 97000863 | snoU13c | T/C | 0.084 | 0.325 | 0.067 | 262,808 | 0.028 | 0.004 | 5.85 × 10−11 | 16.8 | 0.026 | 0.004 | 1.00 × 10−9 | 0.088 | 336,474 | 0.030 | 0.003 | 4.55 × 10−22 |
Height | rs12347744 | 9 | 97575273 | AOPEP | T/C | 0.102 | 0.015 | 0.033 | 454,111 | −0.032 | 0.005 | 6.55 × 10−11 | 65.8 | −0.030 | 0.005 | 6.06 × 10−10 | 0.061 | 336,474 | −0.031 | 0.004 | 1.04 × 10−17 |
Height | rs7024254 | 9 | 109498129 | ZNF462 | A/G | 0.255 | 0.721 | 0.207 | 324,351 | 0.017 | 0.003 | 1.04 × 10−8 | 23.7 | 0.036 | 0.003 | 6.10 × 10−35 | 0.204 | 336,474 | 0.010 | 0.002 | 6.50 × 10−6 |
Height | rs10119624 | 9 | 118305438 | DELEC1 | A/G | 0.612 | 0.437 | 0.683 | 353,374 | 0.021 | 0.003 | 2.56 × 10−16 | 31.1 | 0.022 | 0.003 | 8.02 × 10−17 | 0.671 | 336,474 | 0.012 | 0.002 | 3.20 × 10−10 |
Height | rs2902635 | 10 | 105476045 | SH3PXD2A | T/G | 0.710 | 0.382 | 0.821 | 308,782 | −0.021 | 0.003 | 1.59 × 10−12 | 0 | −0.017 | 0.003 | 1.62 × 10−8 | 0.805 | 336,474 | −0.015 | 0.002 | 7.65 × 10−12 |
Height | rs17659078 | 11 | 2284590 | ASCL2 | A/C | 0.211 | 0.149 | 0.258 | 354,931 | 0.019 | 0.003 | 1.78 × 10−10 | 9.0 | 0.016 | 0.003 | 3.45 × 10−8 | 0.273 | 336,474 | 0.004 | 0.002 | 2.24 × 10−2 |
Height | rs11605693 | 11 | 122837037 | JHY | T/C | 0.591 | 0.384 | 0.448 | 380,447 | −0.017 | 0.002 | 3.44 × 10−12 | 0 | −0.018 | 0.002 | 3.07 × 10−14 | 0.447 | 336,474 | −0.013 | 0.002 | 4.45 × 10−13 |
Height | rs621794 | 11 | 125849462 | CDON | A/G | 0.500 | 0.430 | 0.475 | 380,049 | −0.014 | 0.002 | 1.46 × 10−8 | 0 | −0.014 | 0.002 | 7.29 × 10−9 | 0.429 | 336,474 | −0.009 | 0.002 | 1.76 × 10−7 |
Height | rs11221442 | 11 | 128577624 | FLI1 | C/G | 0.171 | 0.109 | 0.217 | 352,360 | −0.022 | 0.003 | 2.03 × 10−12 | 78.8 | −0.023 | 0.003 | 2.03 × 10−13 | 0.252 | 336,474 | −0.008 | 0.002 | 2.59 × 10−5 |
Height | rs12300112 | 12 | 103147575 | LINC00485 | C/G | 0.075 | 0.242 | 0.008 | 154,014 | 0.041 | 0.006 | 4.31 × 10−13 | 45.2 | 0.038 | 0.006 | 3.11 × 10−11 | 0.027 | 336,474 | 0.038 | 0.005 | 4.61 × 10−12 |
Height | rs11616067 | 12 | 116393174 | MED13L | A/G | 0.841 | 0.904 | 0.750 | 327,941 | 0.021 | 0.003 | 6.38 × 10−12 | 21.0 | 0.018 | 0.003 | 2.80 × 10−9 | 0.768 | 336,474 | 0.012 | 0.002 | 6.01 × 10−9 |
Height | rs17197170 | 14 | 21977962 | METTL3 | A/G | 0.931 | 0.960 | 0.842 | 310,344 | −0.026 | 0.004 | 5.40 × 10−12 | 64.9 | −0.025 | 0.004 | 3.74 × 10−11 | 0.828 | 336,474 | −0.018 | 0.002 | 3.07 × 10−14 |
Height | rs11076551 | 16 | 51109492 | RP11-883G14.4c | A/G | 0.341 | 0.343 | 0.267 | 434,688 | 0.014 | 0.003 | 2.14 × 10−8 | 21.6 | 0.015 | 0.003 | 5.87 × 10−9 | 0.376 | 336,474 | 0.009 | 0.002 | 2.51 × 10−7 |
Height | rs12918773 | 16 | 89741403 | SPATA33 | A/G | 0.121 | 0.036 | 0.149 | 279,104 | −0.024 | 0.004 | 7.45 × 10−9 | 46.1 | −0.024 | 0.004 | 3.50 × 10−9 | 0.112 | 336,474 | −0.024 | 0.003 | 4.71 × 10−19 |
Height | rs1346490 | 19 | 7244233 | INSR | A/C | 0.546 | 0.611 | 0.500 | 333,896 | 0.015 | 0.003 | 3.99 × 10−9 | 12.3 | 0.014 | 0.003 | 4.86 × 10−8 | 0.620 | 336,474 | 0.009 | 0.002 | 1.67 × 10−7 |
Height | rs17457472 | 19 | 17493610 | PLVAP | A/C | 0.037 | 0.062 | 0.028 | 356,712 | −0.051 | 0.007 | 5.70 × 10−14 | 0 | −0.042 | 0.007 | 9.89 × 10−10 | 0.040 | 336,474 | −0.019 | 0.004 | 1.12 × 10−5 |
WHRadjBMI (sex combined) | rs17099388 | 5 | 142095250 | FGF1 | A/G | 0.166 | 0.256 | 0.008 | 105,460 | 0.039 | 0.007 | 3.14 × 10−9 | 0 | 0.037 | 0.007 | 2.47 × 10−8 | 0.041 | 484,563 | 0.025 | 0.005 | 2.00 × 10−7 |
WHRadjBMI (sex combined) | rs7975017 | 12 | 26428793 | SSPN | T/C | 0.303 | 0.717 | 0.167 | 267,044 | −0.021 | 0.004 | 7.57 × 10−9 | 5.5 | −0.021 | 0.004 | 1.05 × 10−8 | 0.239 | 484,563 | −0.014 | 0.002 | 2.00 × 10−9 |
Chr, chromosome; EAF, effect allele frequency; HetIsq, heterogeneity I2; N, sample size; WHRadjBMI, waist-to-hip ratio adjusted for BMI; AAAGC, African American Anthropometry Genetics Consortium; GIANT, Genetic Investigation of Anthropometric Traits Consortium.
Each novel locus was defined by the absence of known (previously published) SNPs within 1 Mb (±500 kb) of the lead SNP.
Each known locus was defined by a 1 Mb region around previously identified SNP(s) for the indicated trait; the known SNP(s), p < 5 × 10−8, at each established locus can be found in Table S16.
Human Genome Organisation approved gene names, unless otherwise indicated.