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Table 2 Effect allele frequencies (EAFs) of intraocular pressure related single nucleotide polymorphisms in East Asian groups 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 East Asian EAF CHS EAF CHS log10 P CDX EAF CDX log10 P KHV EAF KHV log10 P
rs1013278 chr7 117603820 Intergenic G C CTTNBP2;LSM8 0.1 0.105 0.000 0.118 0.162 0.076 − 0.079
rs10281637 chr7 116151338 Intergenic T C CAV2;CAV1 0.0089 0.005 0.000 0.011 0.061 0.015 0.079
rs10483727 chr14 61072875 Intergenic T C SIX6;SALRNA1 0.21 0.167 − 0.381 0.113 − 5.663 0.202 − 0.034
rs10505100 chr8 108278616 Intronic C A ANGPT1 0.23 0.233 0.000 0.156 − 0.852 0.182 − 0.142
rs10918274 chr1 165714416 Intronic T C TMCO1 0.99 0.976 − 0.046 1.000 0.175 0.990 0.000
rs11217878 chr11 120340383 Intronic G A ARHGEF12 0.24 0.224 0.000 0.339 1.234 0.227 0.000
rs113985657 chr6 597203 Intronic C T EXOC2 0.14 0.167 0.000 0.097 − 0.467 0.086 − 0.448
rs11710139 chr3 150059342 Intergenic G A LINC01214;TSC22D2 0.075 0.071 0.000 0.038 − 0.586 0.045 − 0.137
rs12377624 chr9 129373110 Intergenic G C MVB12B;LMX1B 0.13 0.114 0.000 0.140 0.048 0.131 0.000
rs1254276 chr14 60847001 Intergenic C T LINC02322;C14orf39 0.78 0.833 0.126 0.887 1.936 0.778 0.000
rs12699251 chr7 11679113 Intronic A G THSD7A 0.2 0.224 0.000 0.215 0.061 0.167 − 0.079
rs1579050 chr2 153364527 Intronic A G FMNL2 0.026 0.010 0.000 0.054 0.658 0.030 0.034
rs17752199 chr6 51406848 Intergenic A G TFAP2B;PKHD1 0.12 0.105 0.000 0.145 0.280 0.106 − 0.054
rs1874458 chr16 65080739 Intronic G A CDH11 0.21 0.229 0.000 0.177 − 0.186 0.182 − 0.079
rs2022945 chr8 108251139 Intergenic A G ABRA;ANGPT1 0.77 0.762 0.000 0.828 0.586 0.813 0.096
rs2024211 chr7 116153025 Intergenic A C CAV2;CAV1 0.0089 0.005 0.000 0.011 0.061 0.015 0.079
rs2073006 chr6 637465 Intronic C T EXOC2 0.15 0.181 0.046 0.118 − 0.447 0.081 − 2.070
rs2188836 chr7 117635382 Intergenic C T CTTNBP2;LSM8 0.09 0.076 0.000 0.113 0.182 0.066 − 0.079
rs2317961 chr6 1533116 Intergenic A G FOXF2;FOXCUT 0.51 0.519 0.000 0.500 − 0.023 0.495 − 0.009
rs2472493 chr9 107695848 Intergenic G A ABCA1;SLC44A1 0.49 0.471 0.000 0.543 0.945 0.455 − 0.170
rs2472496 chr9 107695353 Intergenic G A ABCA1;SLC44A1 0.47 0.457 0.000 0.538 0.544 0.449 − 0.034
rs2487032 chr9 107703934 Intergenic G A ABCA1;SLC44A1 0.49 0.467 0.000 0.532 0.198 0.449 − 0.079
rs2745572 chr6 1548369 Intergenic A G FOXF2;FOXCUT 0.49 0.481 0.000 0.505 0.137 0.510 0.079
rs28500712 chr4 7896213 Intronic A G AFAP1 0.68 0.695 0.000 0.640 − 0.198 0.657 − 0.041
rs28520091 chr4 7846240 Intronic C T AFAP1 0.29 0.329 0.000 0.328 0.199 0.313 0.041
rs28795989 chr4 7891545 Intronic A G AFAP1 0.18 0.181 0.000 0.156 − 0.155 0.187 0.000
rs2935057 chr6 170454915 Intergenic A G LINC00574;LOC102724511 0.76 0.700 − 0.155 0.774 0.054 0.783 0.054
rs3013274 chr6 170464367 Intergenic G A LINC00574;LOC102724511 0.5 0.419 − 0.286 0.565 0.497 0.556 0.142
rs31918 chr5 14820927 Intronic C T ANKH 0.33 0.319 0.000 0.344 0.046 0.298 − 0.079
rs327716 chr7 80838977 Intergenic A G SEMA3C;LOC105369146 0.91 0.919 0.000 0.909 0.000 0.909 0.000
rs33912345 chr14 60976537 Exonic C A SIX6 0.21 0.167 − 0.046 0.113 − 1.659 0.212 0.000
rs3785176 chr16 8896931 Intronic A C PMM2 0.28 0.271 0.000 0.296 0.061 0.237 − 0.079
rs4141671 chr10 60338753 Intronic T C BICC1 0.48 0.443 0.000 0.441 − 0.182 0.439 − 0.079
rs4236601 chr7 116162729 Intergenic G A CAV2;CAV1 0.0099 0.005 0.000 0.016 0.172 0.015 0.079
rs55892100 chr7 115810676 Intergenic A G TFEC;TES 0.8 0.805 0.000 0.785 − 0.061 0.803 0.000
rs5756813 chr22 38175477 Intergenic G T TRIOBP;H1F0 0.71 0.724 0.000 0.849 2.955 0.717 0.000
rs58073046 chr11 120248493 Intronic A G ARHGEF12 0.17 0.167 0.000 0.215 0.447 0.167 0.000
rs61394862 chr5 14851094 Intronic C T ANKH 0.32 0.319 0.000 0.323 0.000 0.298 − 0.041
rs6478746 chr9 129367398 Intergenic G A MVB12B;LMX1B 0.97 0.976 0.000 0.946 − 0.945 0.944 − 0.944
rs66602224 chr8 108293718 Intronic G A ANGPT1 0.14 0.167 0.000 0.075 − 0.945 0.131 0.000
rs6732795 chr2 69411517 Intronic A C ANTXR1 0.85 0.819 0.000 0.823 − 0.175 0.869 0.040
rs73174345 chr3 169252883 Intronic T G MECOM 0 0.000 0.000 0.000 0.000 0.000 0.000
rs746491 chr11 86406159 Intergenic C A ME3;PRSS23 0.14 0.129 0.000 0.086 − 0.715 0.096 − 0.170
rs7518099 chr1 165736880 Intronic C T TMCO1 0.99 0.976 − 0.046 1.000 0.175 0.990 0.000
rs7555523 chr1 165718979 Intronic C A TMCO1 0.99 0.976 − 0.046 1.000 0.175 0.990 0.000
rs7924522 chr11 128380742 Intronic C A ETS1 0.86 0.876 0.000 0.742 − 2.617 0.859 0.000
rs8141433 chr22 19854006 Intergenic A G GNB1L;TXNRD2 0.037 0.033 0.000 0.022 − 0.175 0.020 − 0.079
rs9284802 chr3 85095766 Intronic G A CADM2 0.17 0.152 0.000 0.134 − 0.215 0.172 0.000
rs945686 chr9 129378026 Intronic G C LMX1B 0.99 0.995 0.000 0.989 0.000 0.980 − 0.079
rs9494457 chr6 136474794 Intronic T A PDE7B 0.33 0.262 − 0.381 0.328 0.000 0.439 2.084
rs9853115 chr3 186131600 Intergenic T A DGKG;LINC02052 0.73 0.752 0.000 0.753 0.169 0.753 0.079
rs9913911 chr17 10031183 Intronic A G GAS7 0.5 0.519 0.000 0.522 0.175 0.414 − 2.084
SNP ID Chr Position Type Ref Allele Alt Allele Nearby/containing Gene CHB EAF CHB log10 P JPT EAF JPT log10 P KOR EAF KOR log10 P
rs1013278 chr7 117603820 Intergenic G C CTTNBP2;LSM8 0.126 0.216 0.087 − 0.081 0.114 0.413
rs10281637 chr7 116151338 Intergenic T C CAV2;CAV1 0.015 0.133 0.000 − 0.232 0.007 − 0.169
rs10483727 chr14 61072875 Intergenic T C SIX6;SALRNA1 0.316 4.865 0.260 1.092 0.271 3.218
rs10505100 chr8 108278616 Intronic C A ANGPT1 0.272 0.285 0.303 0.819 0.283 2.435
rs10918274 chr1 165714416 Intronic T C TMCO1 0.995 0.059 0.995 0.047 0.993 0.229
rs11217878 chr11 120340383 Intronic G A ARHGEF12 0.189 − 0.328 0.231 − 0.023 0.227 − 0.229
rs113985657 chr6 597203 Intronic C T EXOC2 0.189 0.430 0.144 0.004 0.208 4.434
rs11710139 chr3 150059342 Intergenic G A LINC01214;TSC22D2 0.097 0.195 0.120 0.779 0.096 0.939
rs12377624 chr9 129373110 Intergenic G C MVB12B;LMX1B 0.146 0.078 0.125 − 0.004 0.079 − 4.387
rs1254276 chr14 60847001 Intergenic C T LINC02322;C14orf39 0.689 − 1.099 0.745 − 0.295 0.727 − 2.493
rs12699251 chr7 11679113 Intronic A G THSD7A 0.184 − 0.059 0.207 0.023 0.229 0.876
rs1579050 chr2 153364527 Intronic A G FMNL2 0.029 0.038 0.010 − 0.343 0.025 − 0.017
rs17752199 chr6 51406848 Intergenic A G TFAP2B;PKHD1 0.112 − 0.059 0.115 − 0.023 0.103 − 0.624
rs1874458 chr16 65080739 Intronic G A CDH11 0.228 0.078 0.212 0.000 0.250 1.588
rs2022945 chr8 108251139 Intergenic A G ABRA;ANGPT1 0.733 − 0.195 0.702 − 0.779 0.723 − 2.027
rs2024211 chr7 116153025 Intergenic A C CAV2;CAV1 0.015 0.133 0.000 − 0.232 0.007 − 0.169
rs2073006 chr6 637465 Intronic C T EXOC2 0.189 0.430 0.183 0.440 0.220 4.434
rs2188836 chr7 117635382 Intergenic C T CTTNBP2;LSM8 0.107 0.133 0.091 0.000 0.095 0.098
rs2317961 chr6 1533116 Intergenic A G FOXF2;FOXCUT 0.549 0.195 0.466 − 0.313 0.475 − 0.904
rs2472493 chr9 107695848 Intergenic G A ABCA1;SLC44A1 0.519 0.285 0.447 − 0.685 0.460 − 0.711
rs2472496 chr9 107695353 Intergenic G A ABCA1;SLC44A1 0.485 0.059 0.438 − 0.203 0.428 − 1.306
rs2487032 chr9 107703934 Intergenic G A ABCA1;SLC44A1 0.510 0.059 0.505 0.047 0.476 − 0.209
rs2745572 chr6 1548369 Intergenic A G FOXF2;FOXCUT 0.451 − 0.430 0.519 0.346 0.517 0.624
rs28500712 chr4 7896213 Intronic A G AFAP1 0.752 0.489 0.649 − 0.191 0.709 0.767
rs28520091 chr4 7846240 Intronic C T AFAP1 0.214 − 0.598 0.279 − 0.025 0.295 0.076
rs28795989 chr4 7891545 Intronic A G AFAP1 0.184 0.035 0.188 0.035 0.170 − 0.196
rs2935057 chr6 170454915 Intergenic A G LINC00574;LOC102724511 0.733 − 0.133 0.793 0.236 0.729 − 0.913
rs3013274 chr6 170464367 Intergenic G A LINC00574;LOC102724511 0.379 − 1.458 0.587 0.867 0.428 − 3.235
rs31918 chr5 14820927 Intronic C T ANKH 0.316 − 0.051 0.375 0.339 0.334 0.054
rs327716 chr7 80838977 Intergenic A G SEMA3C;LOC105369146 0.942 0.285 0.904 − 0.025 0.947 3.495
rs33912345 chr14 60976537 Exonic C A SIX6 0.311 1.376 0.255 0.351 0.268 2.976
rs3785176 chr16 8896931 Intronic A C PMM2 0.267 − 0.052 0.322 0.329 0.316 1.128
rs4141671 chr10 60338753 Intronic T C BICC1 0.519 0.195 0.529 0.339 0.489 0.113
rs4236601 chr7 116162729 Intergenic G A CAV2;CAV1 0.015 0.133 0.000 − 0.779 0.007 − 0.229
rs55892100 chr7 115810676 Intergenic A G TFEC;TES 0.772 − 0.133 0.841 0.346 0.835 1.552
rs5756813 chr22 38175477 Intergenic G T TRIOBP;H1F0 0.728 0.059 0.529 − 4.121 0.643 − 3.218
rs58073046 chr11 120248493 Intronic A G ARHGEF12 0.155 − 0.059 0.159 − 0.035 0.168 − 0.023
rs61394862 chr5 14851094 Intronic C T ANKH 0.301 − 0.059 0.365 0.339 0.333 0.196
rs6478746 chr9 129367398 Intergenic G A MVB12B;LMX1B 0.971 0.000 0.990 1.200 0.967 − 0.106
rs66602224 chr8 108293718 Intronic G A ANGPT1 0.189 0.430 0.144 0.004 0.204 4.208
rs6732795 chr2 69411517 Intronic A C ANTXR1 0.825 − 0.133 0.894 0.489 0.900 3.633
rs73174345 chr3 169252883 Intronic T G MECOM 0.000 0.000 0.000 0.000 0.000 0.000
rs746491 chr11 86406159 Intergenic C A ME3;PRSS23 0.180 0.285 0.221 1.329 0.193 3.194
rs7518099 chr1 165736880 Intronic C T TMCO1 0.995 0.059 0.995 0.047 0.993 0.229
rs7555523 chr1 165718979 Intronic C A TMCO1 0.995 0.059 0.995 0.047 0.993 0.229
rs7924522 chr11 128380742 Intronic C A ETS1 0.859 0.000 0.933 1.329 0.907 3.495
rs8141433 chr22 19854006 Intergenic A G GNB1L;TXNRD2 0.029 − 0.059 0.077 1.092 0.040 0.113
rs9284802 chr3 85095766 Intronic G A CADM2 0.150 − 0.099 0.255 1.296 0.176 0.106
rs945686 chr9 129378026 Intronic G C LMX1B 0.990 0.000 1.000 0.339 0.987 − 0.169
rs9494457 chr6 136474794 Intronic T A PDE7B 0.340 0.051 0.284 − 0.530 0.282 − 1.983
rs9853115 chr3 186131600 Intergenic T A DGKG;LINC02052 0.757 0.195 0.654 − 1.329 0.701 − 0.768
rs9913911 chr17 10031183 Intronic A G GAS7 0.466 − 0.285 0.572 1.376 0.554 2.055
  1. Chr: chromosome, EAF: effect allele frequency, ref allele: reference allele, alt allele: alterative allele, CHS: Southern Han Chinese, China, CDX: Chinese Dai in Xishuangbanna, China, KHV: Kinh in Ho Chi Minh City, Vietnam, CHB: Han Chinese in Beijing, China, JPT: Japanese in Tokyo in 1000 genome project, KOR: Korean Reference Genome data base, P-value: adjusted Fischer’s test, statistical significance was set at P < 0.05 and |log10 P|> 1.301