Table 1.
Four known 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 |
---|---|---|---|---|---|---|---|---|---|
3:41,960,006 | rs1716975 | T | C | 0.321 | 1.14 | 1.11–1.18 | 2.96 × 10−15 | ULK4 | missense_variant |
10:114,773,927 | rs7904519 | A | G | 0.519 | 1.09 | 1.06–1.12 | 5.71 × 10−9 | TCF7L2 | intron_variant |
12:57,527,283 | rs11172113 | T | C | 0.592 | 1.11 | 1.08–1.14 | 6.98 × 10−16 | LRP1 | intron_variant |
15:48,883,939 | rs1818275 | C | T | 0.174 | 1.35 | 1.30–1.41 | 2.54 × 10−47 | FBN1 | intron_variant |
Abbreviations: EA, effect allele; NEA, non-effect allele; EAF, effect allele frequency; rsID, reference SNP cluster ID.