. 2014 Apr 10;16(6):583–591. doi: 10.1111/bdi.12203

Table 1.

Test of association with ANK3 and CACNA1C variants with bipolar disorder

Gene	SNP	Location (hg19)	Position in gene	Change	European 1,000G MAF	MLP		Number of samples	Genotype counts	MAF	p-value^a
ANK3	rs184389434	10: 62493837	Promoter	A/T	0	1.39	BP	1,469	0/15/1454	0.0051	0.41
ANK3	rs184389434	10: 62493837	Promoter	A/T	0	1.39	Control	1,031	0/12/1019	0.0058	0.41
ANK3	ss825679002	10: 61788626	3′UTR	C/A	0	1.39	BP	1,467	0/36/1431	0.012	0.35
ANK3	ss825679002	10: 61788626	3′UTR	C/A	0	1.39	Control	1,026	0/28/998	0.014	0.35
ANK3	rs139972937	10: 61832711	Exon (N2643S)	A/G	0	1.39	BP	1,474	0/9/1465	0.0031	0.042
ANK3	rs139972937	10: 61832711	Exon (N2643S)	A/G	0	1.39	Control	1,030	0/1/1029	0.0005	0.042
CACNA1C	ss825679004	12: 2161934	Promoter	G/A	0	1.39	BP	1,467	0/5/1462	0.0017	0.57
CACNA1C	ss825679004	12: 2161934	Promoter	G/A	0	1.39	Control	1,031	0/4/1027	0.0019	0.57
CACNA1C	ss825679005	12: 2694668	Splice site	G/A	0	1.39	BP	1,473	0/3/1470	0.0010	0.7
CACNA1C	ss825679005	12: 2694668	Splice site	G/A	0	1.39	Control	1,032	0/2/1030	0.0010	0.7
CACNA1C	rs146482058	12: 2403077	Intron^b^,^e	–/T	0	10.9	BP	1,486	3/134/1322	0.048	0.31
CACNA1C	rs146482058	12: 2403077	Intron^b^,^e	–/T	0	10.9	Control	1,022	4/96/922	0.051	0.31
CACNA1C	rs79398153	12: 2295156	Intron^b^,^e	C/T	0.01	1.57	BP	1,498	3/88/1380	0.032	0.015
CACNA1C	rs79398153	12: 2295156	Intron^b^,^e	C/T	0.01	1.57	Control	1,029	0/44/985	0.021	0.015
CACNA1C	rs191953785	12: 2425097	Intron^b^,^e	C/T	0	2.29	BP	1,475	0/25/1450	0.0085	0.34
CACNA1C	rs191953785	12: 2425097	Intron^b^,^e	C/T	0	2.29	Control	1,020	0/20/1005	0.0098	0.34
CACNA1C	rs112312080	12: 2354510	Intron^b^,^c^,^e	C/T	0.001	2.02	BP	1,501	0/35/1439	0.012	0.30
CACNA1C	rs112312080	12: 2354510	Intron^b^,^c^,^e	C/T	0.001	2.02	Control	1,028	0/20/1008	0.0097	0.30
CACNA1C	rs113414207	12: 2292742-2292743	Intron^b^,^d^,^e	–/C	0	2.15	BP	1,497	0/76/1394	0.026	0.19
CACNA1C	rs113414207	12: 2292742-2292743	Intron^b^,^d^,^e	–/C	0	2.15	Control	1,026	0/44/982	0.021	0.19
CACNA1C	ss825679006	12: 2329069	Intron^b^,^d^,^e	G/T	0	2.15	BP	1,498	0/14/1457	0.0048	0.43
CACNA1C	ss825679006	12: 2329069	Intron^b^,^d^,^e	G/T	0	2.15	Control	1,033	0/8/1024	0.0039	0.43
CACNA1C	ss825679007	12: 2423175	Intron^b^,^c^,^d^,^e	G/C	0	2.15	BP	1,502	0/4/1471	0.0014	0.34
CACNA1C	ss825679007	12: 2423175	Intron^b^,^c^,^d^,^e	G/C	0	2.15	Control	1,026	0/1/1025	0.0010	0.34

1,000G = 1,000 Genomes; ANK3 = ankyrin 3; BP = bipolar disorder; CACNA1C = L-type calcium channel α1C subunit; MAF = minor allele frequency; SNP = single nucleotide polymorphism; UTR = untranslated region; European 1,000G MAF = MAF for European samples in the 1,000G Project ⁷²; MLP = minus log₁₀ of Fisher's exact p-value comparing UCL whole-genome sequence allele frequency to the European 1,000G MAF.

p-significance value for a Fisher's exact test.

H3K4Me1, H3K4Me3, and H3K27Ac marks.

DNAse hypersensitivity cluster marks.

Human mRNA.

Conserved region. The distributions of genotype data for all SNPs were in Hardy–Weinberg equilibrium in the cases and controls.