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Table 1 Effect allele frequencies (EAFs) of intraocular pressure related single nucleotide polymorphisms in populations of diverse ancestry including Koreans

From: Analysis of risk allele frequencies of single nucleotide polymorphisms related to open-angle glaucoma in different ethnic groups

SNP ID Chr Position Type Ref Allele Alt Allele Nearby/containing Gene Global EAF AMR EAF AMR log10 P AFR EAF AFR log10 P EAS EAF
rs1013278 chr7 117603820 Intergenic G C CTTNBP2;LSM8 0.31 0.28 − 0.735 0.33 0.738 0.1
rs10281637 chr7 116151338 Intergenic T C CAV2;CAV1 0.22 0.21 − 0.177 0.4 36.671 0.0089
rs10483727 chr14 61072875 Intergenic T C SIX6;SALRNA1 0.35 0.66 51.990 0.034 − 146.666 0.21
rs10505100 chr8 108278616 Intronic C A ANGPT1 0.16 0.18 0.569 0.11 − 5.368 0.23
rs10918274 chr1 165714416 Intronic T C TMCO1 0.92 0.87 − 3.857 0.92 0.000 0.99
rs11217878 chr11 120340383 Intronic G A ARHGEF12 0.21 0.15 − 3.286 0.25 2.601 0.24
rs113985657 chr6 597203 Intronic C T EXOC2 0.12 0.11 − 0.249 0.087 − 3.132 0.14
rs11710139 chr3 15005942 Intergenic G A LINC01214;TSC22D2 0.16 0.14 − 0.578 0.16 0.010 0.075
rs12377624 chr9 129373110 Intergenic G C MVB12B;LMX1B 0.23 0.24 0.194 0.11 − 23.178 0.13
rs1254276 chr14 60847001 Intergenic C T LINC02322;C14orf39 0.63 0.32 − 51.921 0.89 82.782 0.78
rs12699251 chr7 11679113 Intronic A G THSD7A 0.25 0.35 6.518 0.11 − 29.965 0.2
rs1579050 chr2 153364527 Intronic A G FMNL2 0.28 0.46 19.037 0.1 − 46.833 0.026
rs17752199 chr6 51406848 Intergenic A G TFAP2B;PKHD1 0.13 0.13 0.000 0.15 1.166 0.12
rs1874458 chr16 65080739 Intronic G A CDH11 0.2 0.21 0.187 0.085 − 24.499 0.21
rs2022945 chr8 108251139 Intergenic A G ABRA;ANGPT1 0.84 0.83 − 0.204 0.9 7.594 0.77
rs2024211 chr7 116153025 Intergenic A C CAV2;CAV1 0.21 0.2 − 0.177 0.34 20.570 0.0089
rs2073006 chr6 637465 Intronic C T EXOC2 0.11 0.12 0.258 0.045 − 13.535 0.15
rs2188836 chr7 117635382 Intergenic C T CTTNBP2;LSM8 0.33 0.28 − 1.730 0.39 4.233 0.09
rs2317961 chr6 1533116 Intergenic A G FOXF2;FOXCUT 0.63 0.59 − 1.121 0.82 40.735 0.51
rs2472493 chr9 107695848 Intergenic G A ABCA1;SLC44A1 0.61 0.65 1.095 0.69 6.970 0.49
rs2472496 chr9 107695353 Intergenic G A ABCA1;SLC44A1 0.61 0.64 0.690 0.69 6.970 0.47
rs2487032 chr9 107703934 Intergenic G A ABCA1;SLC44A1 0.6 0.48 − 7.836 0.83 58.058 0.49
rs2745572 chr6 1548369 Intergenic A G FOXF2;FOXCUT 0.36 0.38 0.395 0.15 − 52.096 0.49
rs28500712 chr4 7896213 Intronic A G AFAP1 0.66 0.59 − 3.016 0.72 4.381 0.68
rs28520091 chr4 7846240 Intronic C T AFAP1 0.32 0.38 2.332 0.15 − 36.294 0.29
rs28795989 chr4 7891545 Intronic A G AFAP1 0.29 0.32 0.743 0.14 − 30.033 0.18
rs2935057 chr6 170454915 Intergenic A G LINC00574;LOC102724511 0.8 0.82 0.502 0.74 − 5.373 0.76
rs3013274 chr6 170464367 Intergenic G A LINC00574;LOC102724511 0.61 0.58 − 0.664 0.7 8.654 0.5
rs31918 chr5 14820927 Intronic C T ANKH 0.29 0.34 1.752 0.28 − 0.298 0.33
rs327716 chr7 80838977 Intergenic A G SEMA3C;LOC105369146 0.71 0.68 − 0.743 0.81 12.896 0.91
rs33912345 chr14 60976537 Exonic C A SIX6 0.34 0.66 54.967 0.032 − 143.370 0.21
rs3785176 chr16 8896931 Intronic A C PMM2 0.18 0.14 − 1.712 0.096 − 13.535 0.28
rs4141671 chr10 60338753 Intronic T C BICC1 0.49 0.32 − 15.716 0.55 3.871 0.48
rs4236601 chr7 116162729 Intergenic G A CAV2;CAV1 0.23 0.21 − 0.434 0.4 32.449 0.0099
rs55892100 chr7 115810676 Intergenic A G TFEC;TES 0.54 0.43 − 6.518 0.61 5.149 0.8
rs5756813 chr22 38175477 Intergenic G T TRIOBP;H1F0 0.55 0.62 2.799 0.4 − 21.169 0.71
rs58073046 chr11 120248493 Intronic A G ARHGEF12 0.1 0.042 − 6.316 0.013 − 32.104 0.17
rs61394862 chr5 14851094 Intronic C T ANKH 0.28 0.33 1.781 0.26 − 0.777 0.32
rs6478746 chr9 129367398 Intergenic G A MVB12B;LMX1B 0.8 0.85 2.421 0.73 − 6.990 0.97
rs66602224 chr8 108293718 Intronic G A ANGPT1 0.32 0.32 0.000 0.44 14.831 0.14
rs6732795 chr2 69411517 Intronic A C ANTXR1 0.66 0.49 − 16.002 0.78 16.515 0.85
rs73174345 chr3 169252883 Intronic T G MECOM 0.054 0.036 − 1.095 0.13 18.287 0
rs746491 chr11 86406159 Intergenic C A ME3;PRSS23 0.15 0.17 0.588 0.11 − 3.715 0.14
rs7518099 chr1 165736880 Intronic C T TMCO1 0.92 0.87 − 3.857 0.91 − 0.608 0.99
rs7555523 chr1 165718979 Intronic C A TMCO1 0.9 0.87 − 1.399 0.85 − 6.009 0.99
rs7924522 chr11 128380742 Intronic C A ETS1 0.75 0.71 − 1.291 0.79 2.503 0.86
rs8141433 chr22 19854006 Intergenic A G GNB1L;TXNRD2 0.28 0.16 − 10.572 0.69 159.128 0.037
rs9284802 chr3 85095766 Intronic G A CADM2 0.32 0.33 0.177 0.13 − 46.150 0.17
rs945686 chr9 129378026 Intronic G C LMX1B 0.82 0.87 2.585 0.73 − 11.619 0.99
rs9494457 chr6 136474794 Intronic T A PDE7B 0.39 0.45 2.158 0.37 − 0.696 0.33
rs9853115 chr3 186131600 Intergenic T A DGKG;LINC02052 0.56 0.47 − 4.386 0.48 − 6.471 0.73
rs9913911 chr17 10031183 Intronic A G GAS7 0.31 0.32 0.177 0.16 − 28.132 0.5
SNP ID Chr Position Type Ref Allele Alt Allele Nearby/containing Gene EAS log10 P SAS EAF SAS log10 P EUR EAF EUR log10 P KOR EAF KOR log10 P
rs1013278 chr7 117603820 Intergenic G C CTTNBP2;LSM8 − 47.563 0.4 6.676 0.4 7.043 0.114 − 102.924
rs10281637 chr7 116151338 Intergenic T C CAV2;CAV1 − 80.906 0.19 − 1.271 0.26 2.100 0.007 − 232.094
rs10483727 chr14 61072875 Intergenic T C SIX6;SALRNA1 − 17.809 0.42 4.030 0.6 47.063 0.271 − 13.494
rs10505100 chr8 108278616 Intronic C A ANGPT1 6.644 0.2 2.350 0.11 − 4.159 0.283 40.539
rs10918274 chr1 165714416 Intronic T C TMCO1 20.362 0.96 5.017 0.86 − 7.783 0.993 62.418
rs11217878 chr11 120340383 Intronic G A ARHGEF12 1.395 0.23 0.659 0.16 − 3.413 0.227 1.147
rs113985657 chr6 597203 Intronic C T EXOC2 1.036 0.12 0.000 0.14 1.014 0.208 26.399
rs11710139 chr3 150059342 Intergenic G A LINC01214;TSC22D2 − 12.606 0.16 0.000 0.23 6.403 0.096 − 16.719
rs12377624 chr9 129373110 Intergenic G C MVB12B;LMX1B − 12.549 0.33 9.258 0.37 18.120 0.079 − 78.578
rs1254276 chr14 60847001 Intergenic C T LINC02322;C14orf39 19.784 0.6 − 0.943 0.4 − 39.746 0.727 19.784
rs12699251 chr7 11679113 Intronic A G THSD7A − 3.064 0.25 0.000 0.4 19.691 0.229 − 1.524
rs1579050 chr2 153364527 Intronic A G FMNL2 − 89.083 0.35 4.372 0.58 69.618 0.025 − 242.856
rs17752199 chr6 51406848 Intergenic A G TFAP2B;PKHD1 − 0.364 0.12 − 0.327 0.12 − 0.320 0.103 − 3.773
rs1874458 chr16 65080739 Intronic G A CDH11 0.314 0.2 0.000 0.33 17.034 0.250 7.076
rs2022945 chr8 108251139 Intergenic A G ABRA;ANGPT1 − 6.644 0.8 − 2.350 0.89 4.159 0.723 − 37.209
rs2024211 chr7 116153025 Intergenic A C CAV2;CAV1 − 76.273 0.19 − 0.664 0.26 3.118 0.007 − 218.926
rs2073006 chr6 637465 Intronic C T EXOC2 3.236 0.11 0.000 0.13 1.060 0.220 40.976
rs2188836 chr7 117635382 Intergenic C T CTTNBP2;LSM8 − 60.936 0.43 7.936 0.41 5.477 0.095 − 150.366
rs2317961 chr6 1533116 Intergenic A G FOXF2;FOXCUT − 11.567 0.52 − 8.961 0.64 0.217 0.475 − 44.116
rs2472493 chr9 107695848 Intergenic G A ABCA1;SLC44A1 − 11.416 0.65 1.567 0.58 − 1.060 0.460 − 40.945
rs2472496 chr9 107695353 Intergenic G A ABCA1;SLC44A1 − 15.152 0.67 3.051 0.58 − 1.060 0.428 − 59.932
rs2487032 chr9 107703934 Intergenic G A ABCA1;SLC44A1 − 9.692 0.56 − 1.474 0.5 − 7.924 0.476 − 28.298
rs2745572 chr6 1548369 Intergenic A G FOXF2;FOXCUT 13.501 0.48 10.620 0.36 0.000 0.517 45.723
rs28500712 chr4 7896213 Intronic A G AFAP1 0.586 0.54 − 10.735 0.72 3.416 0.709 5.547
rs28520091 chr4 7846240 Intronic C T AFAP1 − 1.186 0.37 2.314 0.5 25.369 0.295 − 1.770
rs28795989 chr4 7891545 Intronic A G AFAP1 − 12.655 0.26 − 1.084 0.6 73.748 0.170 − 36.886
rs2935057 chr6 170454915 Intergenic A G LINC00574;LOC102724511 − 2.238 0.84 2.252 0.88 8.761 0.729 − 13.364
rs3013274 chr6 170464367 Intergenic G A LINC00574;LOC102724511 − 9.753 0.68 4.063 0.57 − 1.606 0.428 − 59.784
rs31918 chr5 14820927 Intronic C T ANKH 1.881 0.22 − 4.799 0.29 0.000 0.334 4.776
rs327716 chr7 80838977 Intergenic A G SEMA3C;LOC105369146 45.585 0.64 − 4.367 0.43 − 60.462 0.947 183.742
rs33912345 chr14 60976537 Exonic C A SIX6 − 15.632 0.4 3.083 0.6 50.841 0.268 − 11.500
rs3785176 chr16 8896931 Intronic A C PMM2 11.463 0.13 − 3.575 0.25 6.099 0.316 45.623
rs4141671 chr10 60338753 Intronic T C BICC1 − 0.226 0.56 3.867 0.49 0.000 0.489 − 0.037
rs4236601 chr7 116162729 Intergenic G A CAV2;CAV1 − 84.231 0.19 − 1.952 0.26 1.262 0.007 − 244.996
rs55892100 chr7 115810676 Intergenic A G TFEC;TES 54.802 0.43 − 8.650 0.37 − 21.708 0.835 182.195
rs5756813 chr22 38175477 Intergenic G T TRIOBP;H1F0 20.456 0.5 − 2.095 0.58 0.989 0.643 16.731
rs58073046 chr11 120248493 Intronic A G ARHGEF12 8.745 0.21 17.513 0.1 0.000 0.168 18.725
rs61394862 chr5 14851094 Intronic C T ANKH 1.910 0.21 − 4.971 0.28 0.000 0.333 6.636
rs6478746 chr9 129367398 Intergenic G A MVB12B;LMX1B 50.342 0.78 − 0.668 0.7 − 10.654 0.967 127.390
rs66602224 chr8 108293718 Intronic G A ANGPT1 − 32.704 0.28 − 1.639 0.4 5.548 0.204 − 31.901
rs6732795 chr2 69411517 Intronic A C ANTXR1 34.845 0.68 0.540 0.4 − 50.841 0.900 152.394
rs73174345 chr3 169252883 Intronic T G MECOM − 21.410 0.014 − 7.882 0.059 0.230 0.000 − 59.854
rs746491 chr11 86406159 Intergenic C A ME3;PRSS23 − 0.338 0.13 − 0.815 0.21 5.097 0.193 6.653
rs7518099 chr1 165736880 Intronic C T TMCO1 20.362 0.96 5.017 0.86 − 7.783 0.993 63.362
rs7555523 chr1 165718979 Intronic C A TMCO1 27.970 0.96 9.258 0.86 − 3.391 0.993 85.262
rs7924522 chr11 128380742 Intronic C A ETS1 14.150 0.75 0.000 0.63 − 13.128 0.907 78.316
rs8141433 chr22 19854006 Intergenic A G GNB1L;TXNRD2 − 78.658 0.22 − 3.655 0.15 − 18.042 0.040 − 200.793
rs9284802 chr3 85095766 Intronic G A CADM2 − 22.155 0.41 6.585 0.63 72.241 0.176 − 49.830
rs945686 chr9 129378026 Intronic G C LMX1B 61.221 0.79 − 1.348 0.76 − 4.495 0.987 156.676
rs9494457 chr6 136474794 Intronic T A PDE7B − 3.323 0.44 2.158 0.37 − 0.570 0.282 − 23.733
rs9853115 chr3 186131600 Intergenic T A DGKG;LINC02052 23.247 0.57 0.193 0.53 − 1.014 0.701 38.881
rs9913911 chr17 10031183 Intronic A G GAS7 28.572 0.27 − 1.662 0.37 3.416 0.554 109.722
  1. Chr: chromosome EAF: effect allele frequency ref allele: reference allele alt allele: alterative allele AMR: Americans AFR: Africans, EAS: East Asians, SAS: South Asians, EUR: Europeans, KOR: Koreans, P-value: adjusted Fischer’s test, statistical significance was set at P < 0.05 and |log10 P|> 1.301
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BMC Medical Genomics

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