Table 3.
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.