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. 2012 Sep 12;21(5):563–566. doi: 10.1038/ejhg.2012.207

Table 1. Genome-wide significant polymorphisms on chromosome 19 associated with familial hypercholesterolemia.

Polymorphism Position Allele The Rotterdam study MAF ARGOSMAF OR P-value
rs7259203 8 672 833a A 0.16 0.24 1.71 4.32 × 10−11
rs2033483 9 115 342a G 0.11 0.18 1.76 6.51 × 10−10
rs10422772 9 584 423a A 0.14 0.08 0.49 1.41 × 10−8
rs10405652 9 602 123a A 0.14 0.08 0.49 2.03 × 10−8
rs10411082 9 602 216a A 0.21 0.13 0.58 4.51 × 10−8
rs10418705 9 629 925a G 0.20 0.13 0.57 3.16 × 10−8
rs10417523 9 681 194a C 0.14 0.07 0.48 1.87 × 10−8
rs10415132 9 724 483a A 0.21 0.13 0.57 2.08 × 10−8
rs7247038 9 739 695a G 0.21 0.13 0.58 4.16 × 10−8
rs2431820 9 996 284a G 0.06 0.11 2.09 1.05 × 10−10
rs10417403 10 033 516a G 0.26 0.34 1.50 3.33 × 10−8
rs3745264 10 290 566 A 0.15 0.25 1.97 6.00 × 10−17
rs7507634 10 297 562 A 0.11 0.22 2.24 1.36 × 10−20
rs2304240 10 310 392 A 0.16 0.33 2.63 2.21 × 10−35
rs280519 10 333 933 G 0.50 0.40 0.67 1.78 × 10−8
rs8112449 10 381 064 A 0.30 0.22 0.63 3.63 × 10−8
rs7256672 10 440 474 C 0.36 0.45 1.49 1.14 × 10−8
rs1529711 10 884 434 A 0.16 0.25 1.73 8.58 × 10−12
rs4804149 11 145 028 G 0.29 0.40 1.64 1.83 × 10−12
rs387865 11 145 539 A 0.29 0.39 1.57 1.61 × 10−10
rs8111456 11 162 147 G 0.34 0.44 1.54 3.30 × 10−10
rs313624 11 413 910 A 0.48 0.43 1.48 2.18 × 10−8
rs4804636 11 703 323 A 0.34 0.45 1.58 3.15 × 10−11
rs286262 11 708 615 A 0.37 0.48 1.55 2.43 × 10−10
rs11880217 12 279 795a A 0.16 0.24 1.66 4.89 × 10−10
rs12610507 12 297 410a C 0.17 0.25 1.62 1.70 × 10−9
rs2967890 12 901 647a G 0.23 0.31 1.55 2.91 × 10−9
rs16042 13 202 037a A 0.11 0.17 1.76 7.05 × 10−10

Abbreviations: LDL, low-density lipoprotein; MAF, minor allele frequency; OR, odds ratio.

a

Located 1-2 Mb from the LDLR gene (located 11 061 132–11 105 490 according to HapMap). The other polymorphisms are located<1 Mb from the LDLR gene.