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. 2024 Aug 22;19(1):2392050. doi: 10.1080/15592294.2024.2392050

Table 2.

Leading SNPs from GWAS of cortical clock: meta-analysis of ROSMAP and BDR.

  Chr:pos Effect allele Non-effect EAF beta p-value Gene annotation  
Rs4844620 1:207980901 A G 0.12 0.886 1.29E-07 CD46 Membrane cofactor 9, protects injury by complement, modulates T cell activation. inflammatory disorders, cancers
rs17187636 2:166309615 A G 0.08 1.266 1.17E-06 CSRNP3, GALNT3, FIGN CSRNP3: DNA-binding transcription factor, apoptotic processes and transcriptional activity, related to education, bone density
GALNT3: oligosaccharide biosynthesis, phosphate homeostasis
FIGN: microtubule organization, locomotion, neuropathy
rs17743504 17:10080837 A T 0.12 1.008 1.47E-06 GAS7 In purkinje neurons, intraocular pressure, glaucoma
Rs34403329 8:18029698 A G 0.35 −0.826 2.48E-06 NAT1 Folate catabolism, bladder cancer, urate, depression, blood pressure
Rs13180000 5:50132506 A T 0.22 −0.825 1.66E-06 PARP8 Protein ADP-ribosylase activity, diabetes, complement component C6
rs9557340 13:100580750 A G 0.32 0.713 2.97E-06 CLYBL Mitochondrial enzyme, regulation of cobalamin metabolic process, vitamin B12 levels
rs2593685 11:22391419 T C 0.41 0.671 3.65E-06 SLC17A6 Neurotransmitter transporter, synaptic activity
rs4979892 10:79341734 T C 0.46 −0.626 6.39E-06 KCNMA1
DLG5
KCNMA1: potassium channel, smooth muscle contraction, neurotransmitter release, neuron excitability, epilepsy
DLG5: cell scaffolding, cell proliferation, dendritic spine formation, synaptogenesis
rs4253425 4:187205929 A C 0.10 0.959 6.56E-06 F11
CYP4V2 KLKB1
F11: coagulation factor XI, clotting, VTE, TPA levels
rs836815 5:79995116 A G 0.30 −0.679 7.52E-06 MSH3 DNA repair, cortical thickness, huntington disease, endometrial cancer
rs13105396 4:17047358 T C 0.06 1.445 7.79E-06 CPB2 Hydrolyze c-terminal peptide bonds, downregulates fibrinolysis, complement cascade, thrombosis
rs79932664 21:43779709 T C 0.09 1.038 7.87E-06 TFF1 Secretory protein
rs17111206 1:94646439 A G 0.06 1.321 9.39E-06 ARHGAP29 Rho GTPase signaling, cleft palate