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. 2014 Oct 30;15(10):499. doi: 10.1186/s13059-014-0499-7

Table 1.

Single nucleotide polymorphisms that correlate with Δphotoperiod

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.