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Table 1.

Previously Unreported Associations with PLT

rsID Ref/Alt Function Gene European Ancestry (EA)
Combined All Ancestry (All)
Discovery (n = 108,598)
Replication (n = 19,939)
Combined
Discovery (n = 131,857)
Replication (n = 25,436)
Combined
EAF Beta p Value Beta p Value p Value EAF Beta p Value Beta p Value p Value
rs3091242 C/T intron TMEM50A 0.54 −0.026 9.68 × 10−8 −0.017 0.124 3.85 × 10−8 0.50 −0.02 1.03 × 10−5 −0.0084 0.390 1.24 × 10−5
rs12566888 G/T intron PEAR1 0.094 0.040 1.42 × 10−7 0.061 1.26 × 10−3 1.17 × 10−9 0.16 0.034 2.09 × 10−8 0.047 4.31 × 10−4 5.71 × 10−11
rs200731779 C/G missense FCER1A 1.5 × 10−5 −2.96 2.48 × 10−7 NA NA 2.48 × 10−7 1.2 × 10−5 −2.96 2.48 × 10−7 NA NA 2.48 × 10−7
rs6734238 A/G intergenic IL1F10/IL1RN 0.41 0.022 9.55 × 10−6 0.0075 0.487 1.64 × 10−5 0.41 0.026 7.19 × 10−9 0.015 0.117 3.77 × 10−9
rs12692566a C/A missense LY75-CD302 0.82 −0.029 9.19 × 10−7 −0.042 2.50 × 10−3 1.23 × 10−8 0.83 −0.026 2.27 × 10−6 −0.05 7.84 × 10−5 3.65 × 10−9
rs78446341 G/A missense LY75-CD302 0.02 0.092 4.16 × 10−9 0.14 5.01 × 10−5 1.98 × 10−12 0.018 0.094 3.06 × 10−10 0.13 9.23 × 10−5 1.97 × 10−13
rs56106611b T/G missense KALRN 0.012 0.11 3.51 × 10−8 0.11 7.14 × 10−3 8.51 × 10−10 0.01 0.11 8.59 × 10−8 0.11 7.37 × 10−3 2.14 × 10−9
rs1470579 A/C intron IGF2BP2 0.32 −0.028 1.08 × 10−7 −0.0073 0.562 2.82 × 10−7 0.38 −0.023 6.07 × 10−7 −0.012 0.272 5.15 × 10−7
rs1126673 C/T ncRNA LOC100507053 0.69 0.026 6.38 × 10−8 0.019 9.63 × 10−2 1.81 × 10−8 0.71 0.025 1.87 × 10−8 0.014 0.168 1.12 × 10−8
rs1473247b T/C intron RNF145 0.27 −0.029 3.01 × 10−8 −0.022 8.32 × 10−2 7.28 × 10−9 0.32 −0.026 1.32 × 10−8 −0.025 1.85 × 10−2 7.66 × 10−10
rs2256183 A/G intron MICA 0.56 0.03 6.78 × 10−7 −0.022 0.104 2.60 × 10−6 0.59 0.028 2.13 × 10−7 0.011 0.389 3.20 × 10−7
rs1050331 T/G 3′ UTR ZMIZ2 0.47 0.037 1.32 × 10−15 0.036 5.80 × 10−4 3.28 × 10−18 0.48 0.035 3.09 × 10−17 0.031 8.80 × 10−4 1.26 × 10−19
rs755109 T/C intron HEMGN 0.37 0.028 2.87 × 10−9 0.039 6.84 × 10−4 1.17 × 10−11 0.34 0.028 9.03 × 10−11 0.044 2.18 × 10−5 2.59 × 10−14
rs2068888 G/A nearGene-3 EXOC6 0.45 −0.023 2.81 × 10−7 −0.012 0.266 2.47 × 10−7 0.44 −0.022 1.19 × 10−7 −0.012 0.212 8.61 × 10−8
rs3794153 C/G missense ST5 0.45 −0.027 7.28 × 10−9 −0.026 1.53 × 10−2 3.57 × 10−10 0.40 −0.027 2.19 × 10−9 −0.023 2.47 × 10−2 1.74 × 10−10
rs174583 C/T intron FADS2 0.34 0.031 8.79 × 10−9 0.048 1.22 × 10−4 1.03 × 10−11 0.34 0.028 4.72 × 10−9 0.042 1.10 × 10−4 4.42 × 10−12
rs45535039 T/C 3′ UTR CCDC153 0.28 0.04 4.02 × 10−10 0.071 5.31 × 10−2 8.48 × 10−11 0.28 0.04 2.5 × 10−12 0.056 8.56 × 10−2 6.25 × 10−13
rs11616188 G/A nearGene3 LTBR 0.42 −0.025 1.26 × 10−8 −0.031 3.59 × 10−3 1.81 × 10−10 0.37 −0.025 7.57 × 10−9 −0.033 1.07 × 10−3 4.20 × 10−11
rs10506328b A/C intron NFE2 0.64 0.033 5.63 × 10−11 0.06 5.88 × 10−8 2.01 × 10−16 0.69 0.038 3.79 × 10−15 0.059 2.33 × 10−8 2.73 × 10−21
rs2279574 C/A missense DUSP6 0.54 −0.023 2.47 × 10−7 −0.0082 0.442 4.28 × 10−7 0.50 −0.021 1.57 × 10−7 −0.006 0.531 4.04 × 10−7
rs61745424 G/A missense CUX2 0.025 −0.064 2.36 × 10−6 −0.085 6.79 × 10−3 6.49 × 10−8 0.023 −0.068 1.37 × 10−7 −0.073 1.43 × 10−2 6.30 × 10−9
rs2784521 A/G nearGene-5 DDHD1 0.83 0.025 1.62 × 10−5 0.0096 0.486 2.24 × 10−5 0.76 0.028 2.92 × 10−8 0.01 0.363 5.56 × 10−8
rs55707100 C/T missense MAP1A 0.032 0.095 7.03 × 10−14 0.073 3.87 × 10−2 9.53 × 10−15 0.028 0.092 6.85 × 10−14 0.082 1.62 × 10−2 3.77 × 10−15
rs10852932 G/T intron SMG6 0.36 −0.024 1.82 × 10−6 −0.042 8.93 × 10−4 1.42 × 10−8 0.39 −0.025 4.79 × 10−8 −0.036 6.99 × 10−4 2.15 × 10−10
rs76066357 G/C missense ITGA2B 0.014 −0.17 6.92 × 10−16 −0.19 2.88 × 10−5 1.05 × 10−19 0.013 −0.16 1.92 × 10−15 −0.18 6.00 × 10−5 5.78 × 10−19
rs1801689 A/C missense APOH 0.036 0.083 6.34 × 10−12 0.13 2.44 × 10−5 1.82 × 10−15 0.032 0.090 8.64 × 10−15 0.12 2.03 × 10−5 1.57 × 10−18
rs892055 A/G missense RASGRP4 0.34 0.029 5.30 × 10−10 0.018 9.87 × 10−2 2.01 × 10−10 0.38 0.025 3.49 × 10−9 0.017 8.13 × 10−2 9.96 × 10−10
rs3865444 C/A 5′ UTR CD33 0.32 −0.026 1.11 × 10−6 −0.034 2.52 × 10−3 1.27 × 10−8 0.29 −0.026 2.10 × 10−7 −0.032 3.03 × 10−3 2.59 × 10−9
rs6136489b T/G intergenic SIRPA 0.34 −0.033 8.69 × 10−13 −0.028 1.24 × 10−2 4.00 × 10−14 0.39 −0.030 1.8 × 10−12 −0.024 1.30 × 10−2 8.78 × 10−14
rs855791 A/G missense TMPRSS6 0.56 −0.031 3.96 × 10−11 −0.017 0.130 2.34 × 10−11 0.60 −0.029 2.34 × 10−11 −0.022 3.52 × 10−2 2.97 × 10−12
rs1018448 A/C missense ARFGAP3 0.54 −0.028 4.02 × 10−10 −0.0053 0.618 2.62 × 10−9 0.59 −0.025 1.55 × 10−9 −0.0065 0.515 6.13 × 10−9
rs738409 C/G missense PNPLA3 0.23 −0.042 1.49 × 10−14 −0.042 1.75 × 10−3 1.03 × 10−16 0.22 −0.044 1.33 × 10−18 −0.038 1.61 × 10−3 9.73 × 10−21

We show variants in previously unreported loci (n = 32) and retained after conditional analyses in European ancestry (EA) (p < 2.59 × 10−7) and all ancestry (All) (p < 2.20 × 10−7) analyses. Associations in African ancestry (AA) had previously been reported in the literature (Table S10). Asterisks () indicate variants (20/32) showing evidence of replication (p < 0.05, same direction of effect). If multiple genes/transcripts were annotated to a variant, the transcript most expressed in Eicher et al.32 (Table S22) was selected. Full results and annotations are available in Table S5. Abbreviations are as follows: PLT, platelet count; MPV, mean platelet volume; REF, reference allele; ALT, alternate allele; EAF, effect allele frequency.

a

Surpasses significance threshold after conditioning on rs78446341 (p = 2.48 × 10−7).7

b

Previous association with MPV.

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