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. 2020 Aug 21;105(12):e4742–e4757. doi: 10.1210/clinem/dgaa572

Table 2.

Genes Associated with BMD/Fracture Through RNA Splicing

Ensemble ID Gene Name Gene Type Alternative Excised Intron Meta-P Significant Trait
TB-BMD & SPN BMD TB-BMD & FNK BMD Fracture
ENSG00000090686 USP48 protein coding chr1: 22 073 642:22 079 020 1.39E-07 1.26E-08 2.32E-07 BMD
ENSG00000196810 CTBP1-AS2 antisense chr4: 1 244 138:1 244 684 9.10E-04 9.02E-04 2.11E-09 Fracture
ENSG00000090316 MAEA protein coding chr4: 1 283 770:1 291 744 1.09E-04 1.07E-04 6.08E-10 Fracture
ENSG00000145332 KLHL8 protein coding chr4: 88 116 842:88 141 570 1.43E-07 4.07E-08 6.48E-02 BMD
ENSG00000164180 TMEM161B protein coding chr5: 87 524 345:87 527 536 3.51E-14 3.38E-18 7.64E-02 BMD
ENSG00000155906 RMND1 protein coding chr6: 151 757 689:151 773 151 4.01E-09 4.64E-08 4.35E-05 BMD
ENSG00000033050 ABCF2 protein coding chr7: 150 915 959:150 916 150 1.26E-11 4.48E-11 6.69E-03 BMD
ENSG00000033050 ABCF2 protein coding chr7: 150 916 245:150 918 664 1.82E-12 1.32E-11 3.30E-03 BMD
ENSG00000107164 FUBP3 protein coding chr9: 133 470 975:133 471 924 2.65E-10 5.10E-11 2.08E-06 BMD
ENSG00000149091 DGKZ protein coding chr11: 46 391 100:46 391 491 9.94E-09 9.82E-10 1.68E-03 BMD
ENSG00000149179 C11orf49 protein coding chr11: 47 008 861:47 044 890 6.07E-08 1.81E-08 9.96E-02 BMD
ENSG00000151135 C12orf23 protein coding chr12: 107 349 843:107 350 860 6.31E-14 1.77E-14 1.05E-03 BMD
ENSG00000151135 C12orf23 protein coding chr12: 107 349 843:107 360 889 5.16E-13 5.32E-13 4.57E-02 BMD
ENSG00000151135 C12orf23 protein coding chr12: 107 350 927:107 360 889 5.00E-10 2.52E-10 3.40E-01 BMD
ENSG00000135476 ESPL1 protein coding chr12: 53 662 631:53 662 808 6.07E-17 1.33E-15 4.51E-05 BMD
ENSG00000135476 ESPL1 protein coding chr12: 53 662 712:53 662 808 1.11E-17 2.33E-16 2.20E-05 BMD
ENSG00000135390 ATP5G2 protein coding chr12: 54 036 648:54 062 932 8.65E-10 4.25E-08 1.77E-02 BMD
ENSG00000075413 MARK3 protein coding chr14: 103 918 320:103 921 656 3.89E-06 5.49E-06 3.25E-08 Fracture
ENSG00000108797 CNTNAP1 protein coding chr17: 40 834 592:40 835 839 4.96E-01 8.84E-01 1.27E-07 Fracture
ENSG00000012048 BRCA1 protein coding chr17: 41 276 132:41 277 288 8.34E-07 1.19E-06 1.58E-11 Fracture
ENSG00000188554 NBR1 protein coding chr17: 41 323 319:41 327 808 7.90E-07 5.10E-07 1.28E-13 Fracture
ENSG00000188554 NBR1 protein coding chr17: 41 341 819:41 343 389 1.51E-01 2.39E-01 9.46E-08 Fracture
ENSG00000161692 DBF4B protein coding chr17: 42 808 383:42 811 458 3.68E-07 2.05E-06 6.93E-12 Fracture
ENSG00000214425 LRRC37A4P pseudogene chr17: 43 592 891:43 598 673 1.90E-02 2.44E-02 1.01E-07 Fracture

Abbreviations: BMD, bone mineral density; FNK BMD, femoral neck BMD; SPN BMD, lumbar spine BMD; TB-BMD, total body BMD.