Table 1 Lead SNPs detected in FinnGen. Specific data for all lead SNPs across the three CHD categories with significant findings. Conotruncal defects results are not included as they did not include any genome-wide significant SNPs. NFEE signifies our results compared to Non-Finnish Non-Estonian Europeans, based on the GnomAD 2.1 reference panel containing 5421 individuals. MAF signifies minor allele frequency
Trait | Lead SNP | GRCh38 Position | Ref Allele | Alt Allele | Odds Ratio [95% Confidence Interval] | p | Finnish Enrichment vs NFEE in GnomAD 2.1 | MAF |
|---|---|---|---|---|---|---|---|---|
General CHD | ||||||||
|  | rs35046143 | 1:99,567,756 | TA | A | 1.15[1.09–1.21] | 7.1 × 10–9 | NA GnomAD 2.1 | 0.48 |
rs2316327 | 17:47,001,132 | G | A | 1.17[1.12–1.23] | 1.5 × 10–9 | 1.6 | 0.29 | |
rs1293973611 | 17:81,382,139 | C | T | 4.48[2.80–7.17] | 7.0 × 10–10 | NA GnomAD 2.1 | 9.3 × 10–4 | |
Septal defects | ||||||||
|  | rs6824295 | 4:4,612,553 | C | T | 1.23[1.15–1.33] | 1.2 × 10–8 | 1 | 0.24 |
rs75230966 | 17:46,890,164 | G | A | 1.27[1.17–1.38] | 7.9 × 10–9 | 1.3 | 0.16 | |
rs1293973611 | 17:81,382,139 | C | T | 6.23[3.60–10.80] | 1.2 × 10–10 | NA GnomAD 2.1 | 9.3 × 10–4 | |
Left-sided lesions | ||||||||
|  | rs35046143 | 1:99,567,756 | TA | A | 1.17[1.11–1.24] | 3.2 × 10–8 | NA GnomAD 2.1 | 0.48 |
rs1305393195 | 3:3,995,049 | T | G | 11.02[10.15–11.97] | 6.2 × 10–9 | NA GnomAD 2.1 | 2.7 × 10–4 | |