Table 1.
SNP | Gene | Kendall's correlation P value a | τ rank b | F ST rank c | LnRsb rank d | Functional annotation e | ||
---|---|---|---|---|---|---|---|---|
Biaka-Orcadian | Biaka-Maya | CEPH | CHB + JPT | |||||
Core circadian | ||||||||
rs11048980 | ARNTL2 | 7.167 × 10-8 | 1.000 | 0.506 | 0.000 | 0.79 | 0.89 | intronic |
rs6811520 | CLOCK | 1.444 × 10-5 | 0.978 | 0.831 | 0.466 | 0.84 | 0.87 | intronic |
rs11038695 | CRY2 | 1.626 × 10-4 | 0.957 | 0.624 | 0.247 | 0.64 | 0.33 | intronic; in LD (r 2 = 0.93 in CEPH) with rs11038697 (within ARNTL and CLOCK binding sites) |
rs4789846 | CSNK1D | 5.546 × 10-5 | 0.970 | 0.601 | 0.000 | 0.69 | 0.84 | intronic |
rs5995572 | CSNK1E | 1.053 × 10-5 | 0.984 | 0.973 | 0.515 | 0.05 | 0.14 | intronic |
rs17654772 | NPAS2 | 2.549 × 10-7 | 0.998 | 0.615 | 0.377 | 0.84 | 0.43 | intronic |
rs4663868 | PER2 | 9.462 × 10-5 | 0.962 | 0.286 | 0.219 | 0.97 | 0.90 | intronic |
Circadian hits (RNAi screen) | ||||||||
rs2583836 | ABL1 | 3.071 × 10-7 | 0.995 | 0.936 | 0.311 | 0.97 | 0.63 | intronic |
rs12713670 | ANTXR1 | 4.331 × 10-9 | 1.000 | 0.108 | 0.468 | 0.57 | 0.58 | intronic |
rs12193789 | ASCC3 | 9.351 × 10-6 | 0.994 | 0.371 | 0.166 | 0.94 | 0.96 | intronic |
rs11581556 | ATF6 | 7.326 × 10-7 | 0.995 | 0.845 | 0.615 | 0.96 | 0.90 | intronic |
rs5996513 | BCR | 8.368 × 10-6 | 0.996 | 0.932 | 0.626 | 0.11 | 0.21 | intronic |
rs8 | CDK6 | 9.581 × 10-7 | 0.998 | 0.800 | 0.299 | 0.82 | 0.85 | intronic |
rs2304593 | CMTM7 | 5.239 × 10-6 | 0.993 | 0.370 | 0.000 | 0.16 | 0.34 | intronic |
rs2279103 | CTDP1 | 6.403 × 10-8 | 0.999 | 0.745 | 0.276 | 0.70 | 0.50 | missense T340M |
rs657801 | DENND2D | 9.280 × 10-6 | 0.983 | 0.797 | 0.352 | 0.94 | 0.94 | intronic |
rs2354420 | EMP2 | 6.654 × 10-6 | 0.988 | 0.657 | 0.167 | 0.08 | 0.18 | intronic |
rs11792480 | ENG | 1.281 × 10-5 | 0.989 | 0.954 | 0.041 | 0.83 | 0.68 | intronic |
rs550897 | FAM55D | 3.670 × 10-8 | 0.998 | 0.848 | 0.308 | 0.99 | 0.99 | missense Y398H |
rs1011814 | FGF10 | 6.501 × 10-7 | 0.994 | 0.926 | 0.513 | 0.99 | 1.00 | intronic |
rs17679400 | FHIT | 1.3645 × 10-7 | 0.998 | 0.742 | 0.255 | 0.26 | 0.20 | intronic |
rs1416995 | GPR158 | 2.921 × 10-7 | 0.997 | 0.995 | 0.973 | 0.04 | 0.29 | intronic |
rs12787863 | GRM5 | 3.597 × 10-7 | 0.996 | 0.860 | 0.088 | 0.94 | 0.81 | intronic |
rs17422 | HCFC1 | 1.623 × 10-7 | 0.997 | 0.936 | 0.004 | 0.84 | 0.81 | intronic |
rs11586100 | HNRNPR | 4.271 × 10-6 | 0.984 | 0.968 | 0.248 | 1.00 | 1.00 | intronic |
rs1122821 | HOMER3 | 8.660 × 10-6 | 0.980 | 0.479 | 0.013 | 0.46 | 0.61 | intronic |
rs2158622 | JAZF1 | 5.810 × 10-6 | 0.991 | 0.716 | 0.000 | 0.04 | 0.49 | intronic |
rs9952025 | LIPG | 1.269 × 10-5 | 0.994 | 0.764 | 0.787 | 0.18 | 0.11 | intronic |
rs955816 | MARCH4 | 1.735 × 10-6 | 0.991 | 0.910 | 0.186 | 0.85 | 0.37 | intronic; in LD (r 2 = 0.80 in CHB + JPT) with rs11691655 (within ARNTL and CLOCK binding sites) |
rs566125 | MMP3 | 1.247 × 10-6 | 0.995 | 0.716 | 0.254 | 0.98 | 0.96 | intronic |
rs710080 | MPG | 1.641 × 10-7 | 0.998 | 0.989 | 0.840 | 0.44 | 0.54 | 5' UTR variant |
rs1053000 | PFKP | 9.234 × 10-6 | 0.988 | 0.971 | 0.152 | 1.00 | 1.00 | 3' UTR variant |
rs578096 | PTGER3 | 1.272 × 10-5 | 0.985 | 0.733 | 0.000 | 0.77 | 0.51 | intronic |
rs2020945 | PWP2 | 5.640 × 10-8 | 0.998 | 0.965 | 0.780 | 0.62 | 0.50 | missense D25N |
rs11617401 | RAB20 | 5.288 × 10-7 | 0.997 | 0.791 | 0.000 | 0.89 | 0.47 | intronic |
rs1204897 | RCC2 | 7.331 × 10-6 | 0.987 | 0.540 | 0.496 | 0.37 | 0.46 | intronic |
rs17682132 | RCVRN | 3.072 × 10-7 | 0.998 | 0.943 | 0.000 | 0.96 | 0.33 | intronic |
rs492786 | SCARA3 | 7.034 × 10-6 | 0.982 | 0.197 | 0.417 | 0.82 | 0.68 | intronic |
rs9812406 | SCHIP1 | 1.487 × 10-7 | 0.998 | 0.989 | 0.577 | 0.60 | 0.68 | intronic |
rs6695715 | SEC16B | 1.113 × 10-5 | 0.982 | 0.247 | 0.123 | 0.44 | 0.78 | intronic |
rs2224957 | SH3GL2 | 2.399 × 10-7 | 0.996 | 0.896 | 0.180 | 0.01 | 0.04 | intronic |
rs6081636 | SLC24A3 | 5.980 × 10-6 | 0.988 | 0.612 | 0.246 | 0.16 | 0.47 | intronic |
rs830142 | SLC8A2 | 7.264 × 10-6 | 0.993 | 0.325 | 0.000 | 0.67 | 0.80 | intronic |
rs732611 | TBC1D9 | 4.321 × 10-8 | 0.999 | 0.943 | 0.000 | 0.78 | 0.87 | intronic |
rs1514685 | TPO | 5.156 × 10-8 | 0.998 | 0.720 | 0.199 | 0.23 | 0.17 | intronic |
rs11760463 | WDR86 | 1.279 × 10-5 | 0.975 | 0.854 | 0.378 | 1.00 | 0.97 | intronic |
rs10227271 | WNT2 | 6.406 × 10-6 | 0.983 | 0.971 | 0.173 | 0.07 | 0.70 | intronic |
Mouse circadian/sleep disturbance | ||||||||
rs3753472 | ADORA1 | 1.155 × 10-5 | 0.981 | 0.941 | 0.445 | 0.80 | 0.21 | intronic |
rs2830044 | APP | 5.206 × 10-6 | 0.985 | 0.833 | 0.311 | 0.53 | 0.71 | intronic |
rs228188 | BTBD9 | 3.149 × 10-6 | 0.993 | 0.895 | 0.155 | 1.00 | 0.72 | intronic |
rs7801807 | CADPS2 | 1.465 × 10-5 | 0.993 | 0.891 | 0.000 | 0.90 | 0.90 | intronic |
rs17818083 | EBF2 | 2.924 × 10-6 | 0.992 | 0.939 | 0.000 | 0.11 | 0.24 | intronic |
rs809192 | FYN | 1.270 × 10-5 | 0.987 | 0.804 | 0.061 | 0.82 | 0.63 | intronic |
rs2134294 | HCRTR2 | 5.923 × 10-6 | 0.986 | 0.741 | 0.405 | 1.00 | 0.96 | intronic |
rs17187747 | KCNB2 | 6.700 × 10-7 | 0.994 | 0.652 | 0.349 | 0.33 | 0.54 | intronic |
rs12762512 | KCNMA1 | 4.857 × 10-8 | 0.999 | 0.307 | 0.494 | 0.29 | 0.33 | intronic |
rs1943620 | NCAM1 | 9.774 × 10-9 | 0.999 | 0.838 | 0.410 | 0.18 | 0.19 | intronic |
rs10774910 | NOS1 | 1.693 × 10-6 | 0.990 | 0.916 | 0.118 | 1.00 | 1.00 | intronic |
rs2294678 | NOX3 | 1.530 × 10-5 | 0.980 | 0.950 | 0.172 | 0.18 | 0.87 | intronic |
rs12043436 | OMA1 | 2.192 × 10-6 | 0.991 | 0.840 | 0.129 | 0.99 | 0.95 | intronic |
rs595146 | PHLPP1 | 8.637 × 10-6 | 0.999 | 0.877 | 0.000 | 0.34 | 0.29 | intronic |
rs10508958 | PRKG1 | 4.490 × 10-7 | 0.996 | 0.873 | 0.193 | 0.99 | 0.69 | intronic |
rs3733553 | PRKG2 | 1.212 × 10-5 | 0.980 | 0.868 | 0.823 | 0.96 | 0.99 | intronic |
rs752579 | RAI1 | 1.023 × 10-5 | 0.981 | 0.954 | 0.473 | 1.00 | 0.96 | intronic |
rs2271733 | RAX | 1.464 × 10-5 | 0.984 | 0.688 | 0.443 | 0.89 | 0.63 | missense D44E |
rs10519052 | RORA | 3.667 × 10-6 | 0.991 | 0.448 | 0.234 | 0.68 | 0.68 | intronic |
rs968357 | RORB | 2.655 × 10-6 | 0.992 | 0.755 | 0.560 | 0.63 | 0.83 | intronic |
rs2236409 | TNC | 9.344 × 10-6 | 0.985 | 0.455 | 0.063 | 0.40 | 0.96 | intronic |
rs7300641 | TPH2 | 1.676 × 10-5 | 0.975 | 0.827 | 0.400 | 0.01 | 0.02 | intronic |
rs4445877 | UBE3A | 1.849 × 10-5 | 0.974 | 0.939 | 0.607 | 0.90 | 0.99 | intronic |
Mendelian diseases causing sleep disturbance in humans | ||||||||
rs5909187 | CDKL5 | 6.275 × 10-6 | 0.987 | 0.550 | 0.017 | 0.27 | 0.55 | intronic |
rs11603330 | DHCR7 | 2.848 × 10-7 | 0.995 | 0.806 | 0.479 | 0.75 | 0.98 | intronic |
rs13414769 | HDAC4 | 3.134 × 10-5 | 0.969 | 0.573 | 0.264 | 0.94 | 0.98 | intronic |
rs2239464 | MECP2 | 3.189 × 10-7 | 0.996 | 0.663 | 0.517 | 0.48 | 0.28 | intronic |
rs858953 | NRXN1 | 1.226 × 10-9 | 1.000 | 0.780 | 0.254 | 0.83 | 0.49 | intronic |
rs8137951 | SHANK3 | 3.148 × 10-6 | 0.989 | 0.517 | 0.127 | 0.59 | 0.44 | intronic |
rs12406072 | SLC2A1 | 2.430 × 10-5 | 0.980 | 0.952 | 0.518 | 0.56 | 0.52 | intronic |
Melanopsin signaling | ||||||||
rs308039 | GNA11 | 2.387 × 10-5 | 0.972 | 0.568 | 0.079 | 0.06 | 0.29 | intronic |
rs4745672 | GNAQ | 4.391 × 10-6 | 0.986 | 0.790 | 0.610 | 1.00 | 0.92 | intronic |
rs2476197 | INADL | 1.834 × 10-7 | 0.998 | 0.943 | 0.252 | 0.92 | 0.96 | intronic |
rs2224361 | PLCB4 | 4.222 × 10-5 | 0.991 | 0.426 | 0.000 | 0.32 | 0.37 | intronic |
rs2138004 | PRKCA | 3.025 × 10-5 | 0.971 | 0.974 | 0.708 | 0.24 | 0.33 | intronic |
rs10910030 | PRKCZ | 1.588 × 10-8 | 0.999 | 0.771 | 0.234 | 0.18 | 0.27 | intronic |
rs1392171 | TRPC7 | 2.123 × 10-6 | 0.993 | 0.371 | 0.000 | 0.48 | 0.70 | intronic |
aKendall’s correlation P values for the correlation between allele frequency and Δphotoperiod; bpercentile rank in the distribution of Kendall’s correlation coefficients (τ) calculated for minor allele frequency (MAF)-matched SNPs; cFST percentile rank in the distribution of SNPs showing a similar average MAF (calculated over all populations); dlnRsb percentile rank; einformation on ARNTL, CLOCK and CRY1 binding sites was obtained from [80]; significant values are shown in bold. CEPH, 1000 Genomes Phase I data for Utah Residents with Northern and Western European ancestry; CHB + JPT, 1000 Genomes Phase I data for Han Chinese in Beijing plus Japanese in Tokyo; RNAi, RNA interference; SNP, single nucleotide polymorphism, UTR, untranslated region.