Table 2. Association of DMD variants with cognitive abilities in ERF study.

Cognitive test	Name	Genomic positiona	Reference allele	Variant allele	N	Effect	SE	Nominal P-value	MAF	HWE P-value	PolyPhen prediction	GERP conservation score
General cognitive ability
Dutch Adult Reading Test	rs72470515	32716133	G	C	1222	3.839	1.456	8.59E−03	0.042	0.392	Unknown	0.018
	rs72470514	32716132	G	T	1225	3.226	1.419	2.35E−02	0.043	0.392	Unknown	−1.75
	rs1800278	31496426	T	C	1225	−3.448	1.528	2.45E−02	0.035	1	0.281	1.66
	rs41305353	31496431	T	A	1225	−3.448	1.528	2.45E−02	0.035	1	0.981	5.4
	rs183429765	31838024	C	T	1225	−9.496	4.213	2.47E−02	0.004	1	Unknown	−1.47
	rs17338590	31497369	T	C	1146	−3.246	1.530	3.44E−02	0.034	0.006	Unknown	−0.067
	rs16989970	31950056	G	A	1215	−3.053	1.460	3.72E−02	0.038	0.161	Unknown	4.25
	rs17309542	32614065	A	G	1225	−1.815	0.882	4.03E−02	0.124	0.081	Unknown	2.76
	rs5927082	32591811	A	G	1225	−1.639	0.798	4.07E−02	0.160	0.499	Unknown	2.12
	rs5927083	32591931	T	C	1225	−1.639	0.798	4.07E−02	0.160	0.499	Unknown	−1.32
	rs72468656	32459449	A	G	1221	−8.105	4.089	4.82E−02	0.006	1	Unknown	3.9
	rs72466537	31165350	G	C	1225	−2.814	1.428	4.96E−02	0.042	0.105	Unknown	2.83
Memory
AVLT—Immediate recall	rs1800279	31496398	T	C	1228	0.311	0.138	3.04E−02	0.035	0.282	0.01	2.92
	23:32715801	32715801	G	A	1221	0.836	0.408	4.85E−02	0.003	1	Unknown	2.84
AVLT—Learning	23:32715801	32715801	G	A	1221	6.139	2.015	2.93E−03	0.003	1	Unknown	2.84
	rs2293667	31224881	A	G	1228	1.161	0.472	1.62E−02	0.076	0.467	Unknown	1.29
	rs2293668	31224684	G	A	1228	1.161	0.472	1.62E−02	0.076	0.467	Unknown	3.96
	rs2293666	31224994	G	A	1194	1.145	0.468	1.70E−02	0.077	0.141	Unknown	3.65
	23:31838262	31838262	A	G	1228	−7.458	3.541	3.97E−02	0.001	1	Unknown	−1.35
	rs1800279	31496398	T	C	1228	1.419	0.685	4.30E−02	0.035	0.282	0.01	2.92
Executive
Ratio TMT-B/TMT-A	rs7891425	32361033	C	T	1223	−0.101	0.048	3.99E−02	0.140	0.072	Unknown	5.36
	rs56094071	32430503	A	T	1202	−0.098	0.048	4.55E−02	0.149	0.570	Unknown	5.15
Verbal fluency	rs72468668	32486917	T	G	1225	7.426	3.124	2.12E−02	0.007	1	Unknown	2.06
	rs72470511	32663417	G	A	1229	−8.246	3.758	3.34E−02	0.004	1	Unknown	2.15
	rs12837503	32404249	A	G	1229	−4.038	1.993	4.95E−02	0.018	1	Unknown	−5.13
Visuospatial
Block-design test	rs147546024	33146086	A	G	1211	1.786	0.470	2.56E−04	0.011	1	Unknown	4.08
	rs72470511	32663417	G	A	1218	−2.144	0.629	1.01E−03	0.004	1	Unknown	2.15
	rs183429765	31838024	C	T	1220	−1.673	0.650	1.32E−02	0.004	1	Unknown	−1.47
	23:32834523	32834523	A	G	1220	−2.513	1.043	2.03E−02	0.002	1	Unknown	0.531

Abbreviations; AVLT, Auditory Verbal Learning Test; DMD, dystrophin gene; GERP, the program that generates the conservation score; HWE, Hardy-Weinberg equilibrium; MAF, minor allele frequency; N, number of individuals; SE, standard error; TMT-A, TMT-B, Trail Making Test parts A and B. The most significant finding is printed in bold.

^aGenomic positions are according to hg19 assembly.