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. 2022 Jan 27;9(1):e001898. doi: 10.1136/openhrt-2021-001898

Table 3.

Genetic loci with the top 10 mean saliency scores at the high performance p value threshold of each ethnicity

Chr. SNP Position Closest gene Minor/major allele MAF (%) OR 95% CI P value Mean saliency score
Based on Japanese GWAS
4 rs4611994 111 711 041 PITX2* T/C 47.64 0.42 0.37 to 0.47 1.29×10−47 1.000
4 rs17042171 111 708 287 PITX2* C/A 47.66 0.42 0.37 to 0.47 1.20×10−47 0.711
4 rs6843082 111 718 067 PITX2* A/G 27.21 0.32 0.27 to 0.37 8.06×10−45 0.708
1 rs3737883 203 034 906 PPFIA4* G/A 31.75 0.67 0.59 to 0.75 1.22×10−10 0.498
4 rs6852021 111 744 112 PITX2* A/G 49.58 0.79 0.71 to 0.88 1.37×10−5 0.474
1 rs11579055 203 031 315 PPFIA4* T/G 32.26 0.67 0.59 to 0.76 1.54×10−10 0.434
4 rs723364 111 724 471 PITX2* G/C 20.32 0.82 0.71 to 0.95 0.006 0.421
4 rs17042144 111 689 666 PITX2* C/T 42.31 2.01 1.80 to 2.24 1.40×10−34 0.403
1 rs6694477 203 035 365 PPFIA4* G/A 21.05 0.64 0.55 to 0.74 1.53×10−9 0.386
20 rs11696871 62 387 417 ZBTB46 A/G 48.64 0.94 0.84 to 1.04 0.242 0.385
Based on European GWAS
4 rs4611994 111 711 041 PITX2* T/C 47.64 0.42 0.37 to 0.47 1.29×10−47 1.000
4 rs17042171 111 708 287 PITX2* C/A 47.66 0.42 0.37 to 0.47 1.20×10−47 0.740
4 rs6843082 111 718 067 PITX2* A/G 27.21 0.32 0.27 to 0.37 8.06×10−45 0.716
1 rs11579055 203 031 315 PPFIA4* T/G 32.26 0.67 0.59 to 0.76 1.54×10−10 0.488
1 rs3737883 203 034 906 PPFIA4* G/A 31.75 0.67 0.59 to 0.75 1.22×10−10 0.486
22 rs464385 18 571 008 TUBA8* A/G 43.12 1.01 0.91 to 1.13 0.824 0.485
4 rs17042144 111 689 666 PITX2* C/T 42.31 2.01 1.80 to 2.24 1.40×10−34 0.457
22 rs361594 18 577 338 TUBA8* T/C 48.19 0.91 0.82 to 1.02 0.105 0.440
1 rs6694477 203 035 365 PPFIA4* G/A 21.05 0.64 0.55 to 0.74 1.53×10−9 0.401
4 rs3866838 111 753 815 PITX2* T/C 17.75 0.85 0.73 to 0.98 0.025 0.399
Based on multi-ethnic GWAS
4 rs4611994 111 711 041 PITX2* T/C 47.64 0.42 0.37 to 0.47 1.29×10−47 1.000
4 rs6843082 111 718 067 PITX2* A/G 27.21 0.32 0.27 to 0.37 8.06×10−45 0.827
1 rs3737883 203 034 906 PPFIA4* G/A 31.75 0.67 0.59 to 0.75 1.22×10−10 0.634
4 rs17042171 111 708 287 PITX2* C/A 47.66 0.42 0.37 to 0.47 1.20×10−47 0.540
4 rs2067518 174 612 666 HAND2* G/A 45.85 0.73 0.65 to 0.81 1.38×10−8 0.531
1 rs11579055 203 031 315 PPFIA4* T/G 32.26 0.67 0.59 to 0.76 1.54×10−10 0.527
1 rs6694477 203 035 365 PPFIA4* G/A 21.05 0.64 0.55 to 0.74 1.53×10−9 0.515
4 rs12507756 174 609 772 HAND2* C/T 45.78 0.73 0.65 to 0.81 2.00×10−8 0.459
1 rs6689393 154 426 097 KCNN3* A/G 45.99 1.07 0.96 to 1.19 0.199 0.458
1 rs535709 170 120 831 METTL11B* C/T 12.92 1.04 0.88 to 1.22 0.648 0.430

*Genes are previously proven AF associated loci.

AF, atrial fibrillation; Chr., chromosome; GWAS, Genome-Wide Association Study; MAF, minor allele frequency; SNP, single-nucleotide polymorphism.