Table I.
SNP | GENEa | TYPE | deltaSVM SCOREb |
DISEASE | EFFECT | EFFECT SIZE | REF |
---|---|---|---|---|---|---|---|
rs2857654_A | CCL2 | Enhancer | −2.275704 | Epilepsy | Response in children | 1.45 (1.06–1.99) | (31) |
rs3764028_G | GRIN2B | Promoter | −5.097029 | Epilepsy | Dose range | 1.7553 (1.219–2.291) | (32) |
rs2269577_G | XBP1 | Promoter | 4.710044 | BPD | Responsec | 1.2754 (0.329–2.221) | (33) |
aRefSeq nomenclature
bdeltaSVM is a machine learning algorithm that determines the causal nature of gene variants, including DNAse I hypersensitivity and allele bias (21)
cTotal treatment response score, Kruskal–Wallis test for valproate prophylactic treatment response. BPD: Bipolar disorder, sample containing patients with BPD 1 and BPD 2. Effect sizes generated using Cohen’s D-test adjusted for sample size