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Table 2 Effect allele frequencies (EAFs) of 31 late age-related macular degeneration related single nucleotide polymorphisms in East Asian 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 East Asian EAF CHS EAF CHS log10 P CDX EAF CDX log10 P KHV EAF KHV log10 P CHB EAF CHB log10 P JPT EAF JPT log10 P KOR EAF KOR log10 P
rs10033900 chr4 110,659,067 intergenic T C CFI 0.39 0.39 0.00 0.45 0.92 0.43 0.65 0.31 −1.72 0.37 −0.24 0.34 −2.17
rs10781182 chr9 76,617,720 intergenic T G MIR6130/RORB 0.49 0.51 0.01 0.54 0.50 0.49 0.02 0.50 0.00 0.41 −0.81 0.41 −3.69
rs10922109 chr1 196,704,632 intronic C A CFH 0.44 0.46 0.00 0.51 0.67 0.40 −0.27 0.38 −0.57 0.47 0.19 0.47 0.89
rs11080055 chr17 26,649,724 intronic A C TMEM97/VTN 0.72 0.80 0.77 0.63 −1.03 0.63 −0.99 0.74 0.08 0.77 0.54 0.76 1.50
rs1142 chr7 104,756,326 downstream C T KMT2E/SRPK2 0.37 0.35 0.00 0.47 1.03 0.39 0.20 0.37 0.00 0.26 −1.61 0.34 −1.03
rs11884770 chr2 228,086,920 ncRNA_intronic T C COL4A3 0.78 0.78 0.00 0.81 0.28 0.84 0.72 0.76 −0.13 0.73 −0.56 0.76 −0.43
rs12019136 chr19 5,835,677 intronic G A C3 0.14 0.08 −0.69 0.29 4.20 0.21 0.99 0.10 −0.42 0.04 −3.29 0.08 −6.61
rs12357257 chr10 24,999,593 intronic G A ARHGAP21 0.05 0.02 −0.65 0.11 1.37 0.08 0.47 0.02 −0.79 0.03 −0.35 0.03 −1.70
rs13081855 chr3 99,481,539 ncRNA_intronic G T COL8A1/FILIP1L 0.05 0.04 −0.01 0.05 0.00 0.07 0.35 0.05 0.06 0.03 −0.22 0.03 −2.17
rs1626340 chr9 101,923,372 intergenic G A TGFBR1/COL15A1 0.46 0.38 −0.69 0.53 0.67 0.38 −0.72 0.50 0.37 0.52 0.60 0.51 2.17
rs181705462 chr6 31,947,027 intronic G T C2/CFB/SKIV2L 0.00 0.00 0.00 0.00 0.00 0.01 0.20 0.01 0.40 0.00 0.00 0.00 −0.13
rs2043085 chr15 58,680,954 intergenic T C AQP9;LIPC 0.50 0.55 0.35 0.52 0.13 0.55 0.35 0.52 0.13 0.38 −1.85 0.48 −0.43
rs2230199 chr19 6,718,387 exonic G C C3 0.00 0.00 −0.67 0.00 −0.75 0.01 0.20 0.01 0.79 0.00 −0.81 0.00 − 0.93
rs2740488 chr9 107,661,742 intronic A C ABCA1 0.24 0.26 0.01 0.25 0.02 0.20 −0.35 0.22 −0.13 0.29 0.55 0.26 0.45
rs3138141 chr12 56,115,778 ncRNA_intronic C A RDH5/CD63/MMP19 0.12 0.12 0.00 0.16 0.66 0.19 0.99 0.09 −0.33 0.04 −2.42 0.07 −5.43
rs3750846 chr10 124,215,565 intronic T C ARMS2/HTRA1 0.41 0.39 −0.01 0.40 0.00 0.41 0.00 0.43 0.08 0.40 0.00 0.42 0.14
rs429358 chr19 45,411,941 exonic T C APOE 0.09 0.06 −0.29 0.10 0.22 0.09 0.08 0.10 0.13 0.08 0.00 0.09 0.18
rs55975637 chr3 99,419,853 ncRNA_intronic G A COL8A1 0.06 0.06 0.00 0.06 0.02 0.09 0.45 0.05 0.00 0.03 −0.53 0.03 −3.03
rs570618 chr1 196,657,064 intronic T G CFH 0.95 0.96 0.01 0.98 0.66 0.96 0.11 0.93 −0.42 0.93 −0.35 0.92 −2.17
rs5754227 chr22 33,105,817 intronic T C SYN3/TIMP3 0.61 0.63 0.01 0.55 −0.57 0.65 0.21 0.56 −0.40 0.67 0.62 0.67 2.97
rs61818925 chr1 196,815,450 intergenic T G CFHR1 0.41 0.33 −0.69 0.32 −0.92 0.48 0.70 0.46 0.37 0.46 0.46 0.50 5.24
rs61985136 chr14 68,769,199 intronic C T RAD51B 0.45 0.40 −0.26 0.51 0.59 0.49 0.27 0.38 −0.75 0.47 0.16 0.42 −0.93
rs62247658 chr3 64,715,155 ncRNA_intronic C T ADAMTS9-AS2 0.24 0.25 0.00 0.31 0.75 0.31 0.78 0.19 −0.42 0.17 − 0.81 0.20 −1.70
rs6565597 chr17 79,526,821 intronic C T NPLOC4/TSPAN10 0.21 0.17 −0.36 0.24 0.24 0.23 0.15 0.18 −0.15 0.22 0.01 0.21 0.03
rs67538026 chr19 1,031,438 intronic C T CNN2 0.52 0.47 −0.29 0.57 0.46 0.49 −0.20 0.44 −0.79 0.62 1.12 0.50 −0.64
rs72802342 chr16 75,234,872 intergenic C A CTRB2/CTRB1 0.13 0.12 0.00 0.20 1.03 0.16 0.30 0.11 −0.13 0.09 −0.65 0.11 −0.75
rs73036519 chr19 45,748,362 intergenic G C EXOC3L2/MARK4 0.00 0.00 0.00 0.00 0.00 0.01 0.27 0.00 0.00 0.00 0.00 0.00 −0.35
rs7803454 chr7 99,991,548 intronic C T PILRB/PILRA 0.03 0.03 0.00 0.02 −0.23 0.06 0.72 0.01 −0.40 0.03 0.00 0.02 −0.40
rs8135665 chr22 38,476,276 intronic C T SLC16A8 0.14 0.09 −1.02 0.23 2.55 0.19 0.99 0.10 −0.79 0.10 −0.81 0.10 −2.17
rs943080 chr6 43,826,627 intergenic C T VEGFA 0.73 0.73 0.00 0.76 0.37 0.79 0.99 0.72 −0.06 0.67 −0.92 0.67 −2.46
rs9564692 chr13 31,821,240 intronic C T B3GALTL 0.71 0.71 0.00 0.73 0.14 0.73 0.20 0.70 −0.06 0.69 −0.20 0.73 0.63
  1. 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, Chr chromosome, EAF effect allele frequency, ref. allele reference allele, alt allele alterative allele, P-value: adjusted Fischer’s test assuming 138 hypotheses, statistical significance was set at P < 0.05
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