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Table 1 Effect allele frequencies (EAFs) of 31 late age-related macular degeneration related single nucleotide polymorphisms in continental groups, including Koreans

From: Comparison of risk allele frequencies of single nucleotide polymorphisms associated with age-related macular degeneration in different ethnic groups

SNP ID Chr Position Function Ref allele Alt allele Nearby/containing Gene Global EAF AMR EAF AMR log10 P AFR EAF AFR log10 P EAS EAF EAS log10 P SAS EAF SAS log10 P EUR EAF EUR log10 P KOR EAF KOR log10 P
rs10033900 chr4 110,659,067 intergenic T C CFI 0.49 0.53 1.06 0.66 27.44 0.39 −8.01 0.31 −23.92 0.54 2.30 0.34 −43.57
rs10781182 chr9 76,617,720 intergenic T G MIR6130/RORB 0.46 0.54 3.26 0.15 −101.56 0.49 1.04 0.53 3.66 0.70 42.77 0.41 −4.43
rs10922109 chr1 196,704,632 intronic C A CFH 0.51 0.55 1.06 0.56 2.79 0.44 −4.05 0.56 2.15 0.43 −5.16 0.47 −3.33
rs11080055 chr17 26,649,724 intronic A C TMEM97/VTN 0.58 0.58 0.00 0.61 1.23 0.72 16.01 0.48 −7.41 0.49 −6.53 0.76 64.55
rs1142 chr7 104,756,326 downstream C T KMT2E/SRPK2 0.31 0.33 0.31 0.27 −2.23 0.37 3.55 0.23 −5.81 0.36 2.56 0.34 1.89
rs11884770 chr2 228,086,920 ncRNA_intronic T C COL4A3 0.67 0.72 1.62 0.49 −31.04 0.78 11.41 0.73 3.30 0.71 1.76 0.76 20.03
rs12019136 chr19 5,835,677 intronic G A C3 0.15 0.05 −14.85 0.32 39.45 0.14 −0.34 0.14 −0.31 0.04 −24.78 0.08 −23.98
rs12357257 chr10 24,999,593 intronic G A ARHGAP21 0.14 0.17 1.07 0.11 −2.37 0.05 −15.48 0.16 0.79 0.25 15.64 0.03 −65.27
rs13081855 chr3 99,481,539 ncRNA_intronic G T COL8A1/FILIP1L 0.07 0.06 −0.31 0.03 −4.92 0.05 −1.23 0.10 3.36 0.10 3.01 0.03 −15.11
rs1626340 chr9 101,923,372 intergenic G A TGFBR1/COL15A1 0.29 0.25 −1.07 0.29 0.00 0.46 23.83 0.24 −2.47 0.21 −6.58 0.51 95.30
rs181705462 chr6 31,947,027 intronic G T C2/CFB/SKIV2L 0.01 0.01 0.00 0.01 0.18 0.00 −1.52 0.02 0.66 0.01 0.38 0.00 −4.86
rs2043085 chr15 58,680,954 intergenic T C AQP9;LIPC 0.49 0.62 8.95 0.36 −16.28 0.50 0.23 0.44 −2.15 0.63 15.08 0.48 −0.30
rs2230199 chr19 6,718,387 exonic G C C3 0.09 0.10 0.31 0.03 −11.70 0.00 −30.53 0.10 0.66 0.22 28.35 0.00 −97.67
rs2740488 chr9 107,661,742 intronic A C ABCA1 0.33 0.28 −1.62 0.43 10.40 0.24 −7.72 0.38 2.29 0.25 −6.05 0.26 −12.12
rs3138141 chr12 56,115,778 ncRNA_intronic C A RDH5/CD63/MMP19 0.15 0.11 −1.86 0.01 −61.21 0.12 −1.76 0.38 53.57 0.19 2.57 0.07 −32.36
rs3750846 chr10 124,215,565 intronic T C ARMS2/HTRA1 0.29 0.25 −1.07 0.26 −1.44 0.41 12.35 0.34 2.47 0.19 −10.25 0.42 32.52
rs429358 chr19 45,411,941 exonic T C APOE 0.15 0.10 −2.81 0.27 21.51 0.09 −7.38 0.09 −6.61 0.16 0.37 0.09 −14.75
rs55975637 chr3 99,419,853 ncRNA_intronic G A COL8A1 0.08 0.08 −0.04 0.05 −2.62 0.06 −1.52 0.09 0.40 0.12 4.31 0.03 −20.71
rs570618 chr1 196,657,064 intronic T G CFH 0.78 0.78 0.00 0.81 1.71 0.95 43.09 0.71 −4.95 0.64 −18.54 0.92 72.90
rs5754227 chr22 33,105,817 intronic T C SYN3/TIMP3 0.37 0.39 0.31 0.56 33.60 0.61 42.65 0.12 −57.77 0.13 −53.79 0.67 167.56
rs61818925 chr1 196,815,450 intergenic T G CFHR1 0.59 0.52 −2.60 0.72 17.39 0.41 −24.37 0.69 7.77 0.58 −0.26 0.50 −15.15
rs61985136 chr14 68,769,199 intronic C T RAD51B 0.45 0.60 11.79 0.13 −110.82 0.45 0.00 0.63 23.38 0.58 12.87 0.42 −2.45
rs62247658 chr3 64,715,155 ncRNA_intronic C T ADAMTS9-AS2 0.28 0.29 0.15 0.13 −30.69 0.24 −1.92 0.22 −3.58 0.56 60.51 0.20 −15.79
rs6565597 chr17 79,526,821 intronic C T NPLOC4/TSPAN10 0.24 0.23 −0.15 0.16 −9.47 0.21 −1.28 0.26 0.66 0.36 13.46 0.21 −2.48
rs67538026 chr19 1,031,438 intronic C T CNN2 0.38 0.33 −1.54 0.15 −60.48 0.52 15.07 0.49 8.86 0.45 4.28 0.50 24.75
rs72802342 chr16 75,234,872 intergenic C A CTRB2/CTRB1 0.06 0.06 0.00 0.01 −21.05 0.13 11.80 0.04 −1.35 0.08 1.56 0.11 15.95
rs73036519 chr19 45,748,362 intergenic G C EXOC3L2/MARK4 0.23 0.17 −2.80 0.36 19.67 0.00 −98.90 0.29 3.66 0.29 4.05 0.00 − 284.04
rs7803454 chr7 99,991,548 intronic C T PILRB/PILRA 0.09 0.11 1.00 0.03 −16.28 0.03 −11.57 0.11 1.42 0.19 18.37 0.02 −37.14
rs8135665 chr22 38,476,276 intronic C T SLC16A8 0.25 0.31 2.43 0.37 16.33 0.14 −14.06 0.20 −2.76 0.22 −1.32 0.10 −65.11
rs943080 chr6 43,826,627 intergenic C T VEGFA 0.67 0.52 −12.42 0.83 30.61 0.73 3.60 0.67 0.00 0.51 −20.22 0.67 0.14
rs9564692 chr13 31,821,240 intronic C T B3GALTL 0.50 0.51 0.15 0.45 −2.79 0.71 33.55 0.54 1.42 0.33 −22.06 0.73 101.51
  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 assuming 138 hypotheses, statistical significance was set at P < 0.05
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