Cindy Boer

78 | Chapter 2.1 rs10471753 rs10492367 rs10948155 rs11177 rs11880992 rs12206662 rs2236995 rs2862851 rs496547 rs6094710 rs788748 rs835487 Rr9350591 OMIM Gene PIK3R1 PTHLH RUNX2 - - RUNX2 FGFR3 - KMT2A - - - - OMIM skeletal disorder + + + - - + + - + - - - - OMIM disorder SHORT syn- drome Brachy- dactyly Cleidocranial dysplasia - - Cleido - cranial dys- plasia skeletal dysplasia - Wiedemann- Steiner syndrome - - - - eQTL Gene - - SUPT3H NT5DC2 AP3D1 - SLBP - - - - - - Cis-eQTL p-value - - 4.2x10-22 1.1x10-10 1.1x10-15 - 6.8x10-10 - - - - - - eQTL tissue - - Whole Blood Lympho- blastoid Whole Blood - Whole Blood - - - - - - SNV Nr. Non-synonymous SNVs - - - 8 1 - - - - 1 - - - Gene - - - GNL3;NEK4; STAB1; SPCS1; ITIH1 DOT1L - - - - NCOA3 - - - Gene Prioritized gene PIK3R1 PTHLH RUNX2 GNL3 DOT1L RUNX2 FGFR3 TGFα KMT2A SULF2 IGFBP3 CHST11 COL12A1 Lines of evidence 5 6 5 4 3 6 5 4 2 4 7 4 4 Alternate gene - - - - GADD45B - SLBP - UPK2 NCOA3 Lines of evidence - 3 5 2 4 Table 4 (continued):