Table 1.
SNP ID | Chr a | Position | MAPPED_GENE | Function | Ref Allele b | Alt Allele c | Global EAF d | AMR e EAF | AMR log10 P | AFR f EAF | AFR log10 P | EAS g EAF | EAS log10 P | SAS h EAF | SAS log10 P | EUR i EAF | EUR log10 P | KOR k EAF |
KOR log10 P |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs2131925 | chr1 | 63025942 | DOCK7 | intron_variant | G | T | 0.56 | 0.61 | 1.61 | 0.31 | −58.18 | 0.77 | 35.67 | 0.53 | −0.97 | 0.69 | 13.25 | 0.785 | 102.29 |
rs10908454 | chr1 | 155066416 | EFNA3-AL691442.1 | TF_binding_site_variant | G | A | 0.55 | 0.64 | 4.64 | 0.31 | −53.75 | 0.91 | 116.71 | 0.51 | −1.48 | 0.48 | −3.99 | 0.919 | 312.61 |
rs11264322 | chr1 | 155087933 | EFNA3-AL691442.1 | intergenic_variant | G | A | 0.54 | 0.61 | 2.91 | 0.3 | −53.97 | 0.91 | 122.04 | 0.5 | −1.51 | 0.45 | −6.28 | 0.919 | 312.61 |
rs11264360 | chr1 | 155284586 | FDPS | intron_variant | T | A | 0.35 | 0.3 | −1.79 | 0.2 | −25.83 | 0.7 | 91.61 | 0.3 | −2.46 | 0.27 | −5.79 | 0.638 | 149.83 |
rs11264361 | chr1 | 155289545 | FDPS, RUSC1-AS1 | non_coding_transcript_exon_variant | T | G | 0.35 | 0.3 | −1.79 | 0.21 | −22.25 | 0.71 | 96.83 | 0.31 | −1.66 | 0.26 | −7.22 | 0.801 | 312.61 |
rs10908465 | chr1 | 155389688 | ASH1L | intron_variant | C | T | 0.34 | 0.31 | −0.75 | 0.14 | −48.92 | 0.71 | 102.27 | 0.31 | −1.04 | 0.28 | −3.40 | 0.811 | 312.61 |
rs562338 | chr2 | 21288321 | APOB-AC010872.2 | intergenic_variant | A | G | 0.73 | 0.82 | 6.07 | 0.35 | −138.10 | 0.98 | 91.24 | 0.87 | 21.07 | 0.8 | 5.29 | 0.995 | 311.61 |
rs541041 | chr2 | 21294975 | APOB-AC010872.2 | intergenic_variant | G | A | 0.75 | 0.82 | 3.96 | 0.4 | −119.94 | 0.99 | 93.79 | 0.88 | 19.24 | 0.8 | 3.04 | 0.995 | 282.11 |
rs6782190 | chr3 | 85639672 | CADM2 | intron_variant | G | A | 0.65 | 0.73 | 4.16 | 0.37 | −73.11 | 0.94 | 91.71 | 0.64 | −0.23 | 0.65 | 0.00 | 0.936 | 231.64 |
rs200641845 | chr4 | 72620895 | GC | intron_variant | T | A | 0.42 | 0.43 | 0.14 | 0.34 | −6.80 | 0.45 | 1.03 | 0.47 | 2.24 | 0.45 | 1.02 | 0.080 | −285.57 |
rs1607741 | chr4 | 72719033 | AC068721.1-NPFFR2 | intergenic_variant | G | C | 0.58 | 0.72 | 11.29 | 0.49 | −8.10 | 0.42 | −19.40 | 0.61 | 0.98 | 0.73 | 18.02 | 0.338 | −106.15 |
rs1614377 | chr4 | 100279332 | ADH1B-ADH7 | intergenic_variant | G | A | 0.15 | 0.17 | 0.61 | 0.095 | −6.69 | 0.026 | −33.64 | 0.18 | 1.55 | 0.31 | 28.74 | 0.012 | −125.88 |
rs12642639 | chr4 | 100301241 | ADH1B-ADH7 | intergenic_variant | C | A | 0.38 | 0.14 | −37.19 | 0.34 | −2.07 | 0.65 | 54.04 | 0.51 | 12.56 | 0.21 | −24.90 | 0.825 | 312.61 |
rs10070734 | chr5 | 87940026 | LINC00461 | intron_variant | T | C | 0.5 | 0.46 | −1.12 | 0.46 | −1.92 | 0.25 | −48.15 | 0.61 | 9.11 | 0.71 | 33.25 | 0.217 | −155.96 |
rs31612 | chr5 | 108996643 | KRT18P42-AC012603.1 | intergenic_variant | T | C | 0.32 | 0.28 | −1.27 | 0.12 | −51.58 | 0.61 | 63.57 | 0.46 | 15.17 | 0.18 | −18.77 | 0.654 | 201.59 |
rs804280 | chr8 | 11612698 | GATA4, GATA4 | intron_variant | C | A | 0.73 | 0.69 | −1.31 | 0.6 | −18.48 | 0.99 | 103.54 | 0.87 | 21.07 | 0.56 | −24.11 | 0.975 | 231.56 |
rs10818769 | chr9 | 125719923 | RABGAP1 | intron_variant | C | G | 0.49 | 0.58 | 4.58 | 0.071 | −197.61 | 0.31 | −24.91 | 0.83 | 89.25 | 0.85 | 104.26 | 0.260 | −100.85 |
rs9409266 | chr9 | 125745042 | RABGAP1 | intron_variant | G | A | 0.49 | 0.58 | 4.58 | 0.07 | −198.46 | 0.31 | −24.91 | 0.83 | 89.25 | 0.85 | 104.26 | 0.260 | −101.09 |
rs10887718 | chr10 | 82042624 | MAT1A | intron_variant | C | T | 0.66 | 0.67 | 0.16 | 0.41 | −58.77 | 0.97 | 114.96 | 0.76 | 8.79 | 0.54 | −11.52 | 0.979 | 312.61 |
rs12411742 | chr10 | 82042782 | MAT1A | intron_variant | G | A | 0.66 | 0.67 | 0.16 | 0.41 | −58.77 | 0.97 | 114.96 | 0.76 | 8.79 | 0.54 | −11.52 | 0.979 | 312.61 |
rs1620013 | chr11 | 71089210 | SHANK2-AP002387.1 | intergenic_variant | C | T | 0.48 | 0.45 | −0.72 | 0.45 | −1.21 | 0.66 | 24.42 | 0.53 | 2.16 | 0.3 | −24.67 | 0.717 | 104.75 |
rs1396206 | chr12 | 24576859 | SOX5 | intron_variant | A | T | 0.7 | 0.67 | −0.78 | 0.67 | −1.37 | 0.97 | 94.88 | 0.61 | −6.85 | 0.58 | −12.07 | 0.967 | 245.87 |
rs12881545 | chr14 | 101176212 | AL132711.1-DLK1 | TF_binding_site_variant | G | C | 0.26 | 0.38 | 9.25 | 0.029 | −97.30 | 0.0069 | −103.17 | 0.35 | 7.30 | 0.65 | 116.98 | 0.000 | −286.57 |
rs17765311 | chr15 | 63789952 | AC007950.1-AC007950.2 | regulatory_region_variant | A | C | 0.16 | 0.2 | 1.80 | 0.016 | −58.56 | 0.001 | −65.52 | 0.26 | 11.55 | 0.4 | 57.06 | 0.003 | −174.20 |
rs55829990 | chr15 | 63790642 | AC007950.1-AC007950.2 | intergenic_variant | T | C | 0.16 | 0.2 | 1.80 | 0.019 | −54.99 | 0.002 | −63.59 | 0.26 | 11.55 | 0.4 | 57.06 | 0.003 | −174.20 |
rs28607847 | chr15 | 66284913 | MEGF11 | intron_variant | G | A | 0.38 | 0.22 | −15.36 | 0.36 | −0.69 | 0.62 | 42.80 | 0.38 | 0.00 | 0.29 | −6.89 | 0.668 | 149.95 |
rs3814995 | chr19 | 36342212 | NPHS1 | missense_variant | C | T | 0.29 | 0.34 | 1.85 | 0.056 | −84.87 | 0.6 | 74.07 | 0.24 | −2.58 | 0.31 | 0.62 | 0.587 | 162.75 |
rs6123359 | chr20 | 52714706 | BCAS1-CYP24A1 | regulatory_region_variant | A | G | 0.21 | 0.1 | −11.63 | 0.083 | −28.70 | 0.55 | 96.31 | 0.22 | 0.27 | 0.11 | −13.14 | 0.511 | 180.25 |
rs960596 | chr22 | 41393520 | RBX1-AL080243.3 | intergenic_variant | C | T | 0.27 | 0.2 | −3.71 | 0.026 | −107.11 | 0.43 | 21.65 | 0.38 | 10.42 | 0.35 | 5.99 | 0.508 | 108.51 |
p-value: adjusted Fischer’s test, statistical significance was set at p < 0.05. a: chromosome. b: reference allele. c: alternative allele. d: effect allele frequency. e: Americans. f: Africans. g: East Asians. h: South Asians. i: Europeans. k: Koreans.