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