Table 2

Lead results for gene-based aggregate tests, for burden and SMMAT tests, with PLT and MPV

Gene_nameOMIM Mendelian platelet disorder geneNumber of included sitesNumber of alternate allelesP-valueTraitTestFilterMaximum P-value post conditioning
GFI1BYes361974.48E-08MPVSMMAT23.02E-07
GP9Yes271714.23E-08MPVSMMAT36.62E-06
IQGAP2No662982.52E-07MPVBurden10.24
TUBB1Yes592546.21E-15MPVSMMAT25.52E-03
CD36Yes24828865.66E-08PLTSMMAT28.06E-08
CHEK2No19325203.06E-07PLTBurden33.13E-06
GP9Yes424875.96E-17PLTSMMAT31.03E-09
ITGA2BYes23225654.11E-10PLTSMMAT35.13E-09
ITGB3Yes20316935.40E-10PLTSMMAT31.10E-06
MPLYes734142.92E-11PLTBurden11.61E-11
PTPRHNo9113032.76E-08PLTBurden12.39E-05
SH2B3Yes715851.15E-07PLTSMMAT22.17E-07
TET2No1341388.67E-07PLTSMMAT18.52E-07
TNFRSF13BNo8915603.24E-07PLTBurden10.17
TUBB1Yes1076351.95E-24PLTSMMAT21.29E-06
Gene_nameOMIM Mendelian platelet disorder geneNumber of included sitesNumber of alternate allelesP-valueTraitTestFilterMaximum P-value post conditioning
GFI1BYes361974.48E-08MPVSMMAT23.02E-07
GP9Yes271714.23E-08MPVSMMAT36.62E-06
IQGAP2No662982.52E-07MPVBurden10.24
TUBB1Yes592546.21E-15MPVSMMAT25.52E-03
CD36Yes24828865.66E-08PLTSMMAT28.06E-08
CHEK2No19325203.06E-07PLTBurden33.13E-06
GP9Yes424875.96E-17PLTSMMAT31.03E-09
ITGA2BYes23225654.11E-10PLTSMMAT35.13E-09
ITGB3Yes20316935.40E-10PLTSMMAT31.10E-06
MPLYes734142.92E-11PLTBurden11.61E-11
PTPRHNo9113032.76E-08PLTBurden12.39E-05
SH2B3Yes715851.15E-07PLTSMMAT22.17E-07
TET2No1341388.67E-07PLTSMMAT18.52E-07
TNFRSF13BNo8915603.24E-07PLTBurden10.17
TUBB1Yes1076351.95E-24PLTSMMAT21.29E-06

Only the most significant test (burden or SMMAT) and variant filter combination are displayed for each gene, full results can be found in Supplementary Material, Table S8. The maximum P-value post-conditioning is taken from either the GWAS catalog (Supplementary Material, Table S6) or the BCX (Supplementary Material, Table S10) identified variant conditional analysis.

Table 2

Lead results for gene-based aggregate tests, for burden and SMMAT tests, with PLT and MPV

Gene_nameOMIM Mendelian platelet disorder geneNumber of included sitesNumber of alternate allelesP-valueTraitTestFilterMaximum P-value post conditioning
GFI1BYes361974.48E-08MPVSMMAT23.02E-07
GP9Yes271714.23E-08MPVSMMAT36.62E-06
IQGAP2No662982.52E-07MPVBurden10.24
TUBB1Yes592546.21E-15MPVSMMAT25.52E-03
CD36Yes24828865.66E-08PLTSMMAT28.06E-08
CHEK2No19325203.06E-07PLTBurden33.13E-06
GP9Yes424875.96E-17PLTSMMAT31.03E-09
ITGA2BYes23225654.11E-10PLTSMMAT35.13E-09
ITGB3Yes20316935.40E-10PLTSMMAT31.10E-06
MPLYes734142.92E-11PLTBurden11.61E-11
PTPRHNo9113032.76E-08PLTBurden12.39E-05
SH2B3Yes715851.15E-07PLTSMMAT22.17E-07
TET2No1341388.67E-07PLTSMMAT18.52E-07
TNFRSF13BNo8915603.24E-07PLTBurden10.17
TUBB1Yes1076351.95E-24PLTSMMAT21.29E-06
Gene_nameOMIM Mendelian platelet disorder geneNumber of included sitesNumber of alternate allelesP-valueTraitTestFilterMaximum P-value post conditioning
GFI1BYes361974.48E-08MPVSMMAT23.02E-07
GP9Yes271714.23E-08MPVSMMAT36.62E-06
IQGAP2No662982.52E-07MPVBurden10.24
TUBB1Yes592546.21E-15MPVSMMAT25.52E-03
CD36Yes24828865.66E-08PLTSMMAT28.06E-08
CHEK2No19325203.06E-07PLTBurden33.13E-06
GP9Yes424875.96E-17PLTSMMAT31.03E-09
ITGA2BYes23225654.11E-10PLTSMMAT35.13E-09
ITGB3Yes20316935.40E-10PLTSMMAT31.10E-06
MPLYes734142.92E-11PLTBurden11.61E-11
PTPRHNo9113032.76E-08PLTBurden12.39E-05
SH2B3Yes715851.15E-07PLTSMMAT22.17E-07
TET2No1341388.67E-07PLTSMMAT18.52E-07
TNFRSF13BNo8915603.24E-07PLTBurden10.17
TUBB1Yes1076351.95E-24PLTSMMAT21.29E-06

Only the most significant test (burden or SMMAT) and variant filter combination are displayed for each gene, full results can be found in Supplementary Material, Table S8. The maximum P-value post-conditioning is taken from either the GWAS catalog (Supplementary Material, Table S6) or the BCX (Supplementary Material, Table S10) identified variant conditional analysis.

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