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. 2016 Aug;32(8):978–985. doi: 10.1016/j.cjca.2016.01.004

Table 1.

SNPs included in the genetic risk scores (GRS14 and GRS19) and their published estimates

SNP Chromosome Gene/locus SNP location or amino acid change Alleles
Published OR Reference
Risk/reference
rs4341 17q23 ACE Intergenic G/C 1.01 Schunkert et al.16
rs662799 11q23 APOA5 Promoter Variant G/A 1.1 CARDIoGRAMplusC4D Consortium et al.14
rs1042031 2p23-24 APOB E4181K A/G 1.01 CARDIoGRAMplusC4D Consortium et al.14
rs429358 19q13.2 APOE C112R C/T 1.25 Bennett et al.17
rs7412 19q13.2 APOE C158R C/T 1.06 Bennett et al.17
rs10757274 9p21 CDKN2A/CDKN2B Intergenic G/A 1.23 CARDIoGRAMplusC4D Consortium et al.14
rs599839 1p13.3 CELSR2/PSRC1/SORT1 Intergenic A/G 1.11 CARDIoGRAMplusC4D Consortium et al.14
rs708272 16q21 CETP Intronic C/T 1.04 Schunkert et al.16
rs1746048 10q11.2 CXCL12 Intergenic C/T 1.07 CARDIoGRAMplusC4D Consortium et al.14
rs7025486 9q33 DAB2IP Intergenic A/G 1.04 CARDIoGRAMplusC4D Consortium et al.14
rs10455872 6q26 LPA Intergenic G/A 1.32 Schunkert et al.16
rs3798220 6q26 LPA I1891M C/T 1.28 Schunkert et al.16
rs1801177 8p22 LPL D36N A/G 1.09 CARDIoGRAMplusC4D Consortium et al.14
rs328 8p22 LPL S474X C/G 1.1 CARDIoGRAMplusC4D Consortium et al.14
rs17465637 1q41 MIA3 Intergenic C/A 1.14 Schunkert et al.16
rs9818870 3q23.3 MRAS Intergenic T/C 1.07 CARDIoGRAMplusC4D Consortium et al.14
rs1799983 7q35-36 NOS3 D298E T/G 1.0 CARDIoGRAMplusC4D Consortium et al.14
rs11591147 1p32.3 PSCK9 R46L G/T 1.39 Benn et al.18
rs17228212 15q22 SMAD3 Intergenic C/T 1.01 CARDIoGRAMplusC4D Consortium et al.14

The APOA5 promoter variant has been shown to be functional.19 All SNPs were included in the 19-SNP gene score (GRS19).

OR, odds ratio; SNP, single nucleotide polymorphism.

SNPs that were selected for the 14-SNP-GRS (GRS14) construction.