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. 2023 Jun 12;55(7):1106–1115. doi: 10.1038/s41588-023-01420-z

Table 2.

Seventeen new TAAD risk loci after discovery in the MVP and independent replication

Chr:pos (hg19) rsID EA NEA EAF Overall OR Overall 95% CI Overall P Gene/locus* Annotation
1:9,436,538 rs4596926 A G 0.404 1.10 1.07–1.13 3.94 × 10−11 (SPSB1) regulatory_region_variant
2:164,915,279 rs13002621 G A 0.222 1.12 1.08–1.15 2.68 × 10−12 AC092684.1 intron_variant
2:19,729,131 rs1863777 T C 0.361 1.14 1.11–1.17 1.67 × 10−19 (OSR1) intergenic_variant
2:238,227,919 rs6759927 G A 0.301 1.11 1.08–1.14 3.57 × 10−12 COL6A3 downstream_gene_variant
4:146,814,640 rs7666150 C T 0.504 1.13 1.10–1.16 6.58 × 10−17 ZNF827 intron_variant
5:122,441,482 rs337128 C A 0.513 1.12 1.09–1.15 2.74 × 10−16 PRDM6 intron_variant
5:95,566,562 rs55745974 A T 0.658 1.20 1.16–1.23 1.54 × 10−32 CTD-2337A12.1 intron_variant
7:35,293,972 rs336284 A G 0.485 1.1 1.08–1.14 6.23 × 10−13 TBX20 upstream_gene_variant
7:73,431,693 rs62465578 T G 0.431 1.18 1.15–1.21 2.94 × 10−31 (ELN) regulatory_region_variant
9:127,883,905 rs139650453 A G 0.875 1.15 1.10–1.20 4.98 × 10−10 SCAI intron_variant
10:96,061,793 rs4394764 G A 0.810 1.15 1.11–1.19 4.52 × 10−17 PLCE1 intron_variant
11:130,271,647 rs747249 G A 0.619 1.16 1.13–1.19 5.50 × 10−25 ADAMTS8 downstream_gene_variant
13:22,861,921 rs9316871 A G 0.783 1.21 1.18–1.25 3.03 × 10−32 (AL354828.1) regulatory_region_variant
13:50,810,171 rs2765768 G A 0.307 1.10 1.07–1.13 4.85 × 10−11 DLEU1 intron_variant
15:71,612,514 rs1441358 T G 0.643 1.12 1.09–1.15 4.50 × 10−16 THSD4 intron_variant
16:83,045,790 rs7500448 G A 0.241 1.13 1.09–1.16 2.47 × 10−13 CDH13 intron_variant
17:2,097,583 rs1002135 G T 0.398 1.11 1.09–1.14 5.10 × 10−16 SMG6 intron_variant

*Genes for variants that are outside the transcript boundary of a protein-coding gene are shown with the nearest candidate gene in parentheses (for example, (OSR1)).