Table 3.
Exome-Wide Association Analysis results
| Marker | Chr. | Position | Ref/Alt Allele |
Major Allele |
Fisher's Exact P |
Fisher's Exact FDR |
Allele Freq. (Cases) |
Allele Freq. (Controls) |
Classification | Gene(s) | HGVS Coding |
HGVS Protein |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| exm-rs1321744a,b | 6 | 85,891,744 | T/C | C | 1.98E-06 | 0.05 | 0.19 | 0.45 | Intergenic | |||
| exm-rs16867321b | 2 | 181,362,379 | C/T | C | 5.37E-05 | 0.42 | 0.58 | 0.28 | Intergenic | |||
| exm433050 | 4 | 169,083,694 | A/C | A | 4.41E-05 | 0.51 | 0.50 | 0.38 | Coding Nonsynonymous | ANXA10 | c.211A>C | p.Met71Leu |
| exm-rs6583826b | 10 | 94,347,830 | G/A | A | 8.85E-04 | 1.00 | 0.57 | 0.24 | Intergenic | |||
| exm2259477b | 9 | 93,072,009 | C/T | C | 9.88E-04 | 1.00 | 0.57 | 0.28 | Intergenic | |||
| exm2265531b | 3 | 174,131,106 | A/G | A | 1.13E-03 | 1.00 | 0.39 | 0.43 | Intergenic | |||
| exm660951b | 7 | 138,455,988 | A/G | G | 1.13E-03 | 1.00 | 0.39 | 0.43 | Coding | ATP6V0A4 | c.5C>T | p.Ala2Val |
| exm345346b | 3 | 124,731,689 | T/A | T | 6.76E-04 | 1.00 | 0.31 | 0.33 | Coding Nonsynonymous | HEG1 | c.2734A>T | p.Thr912Ser |
| exm2270591 | 7 | 27,223,563 | G/T | T | 1.43E-03 | 1.00 | 0.49 | 0.48 | Intronic | HOXA11 | ||
| exm-rs3729931 | 3 | 12,626,516 | G/A | C | 5.04E-04 | 1.00 | 0.54 | 0.26 | Intronic | RAF1 |
a
Exome-wide significance.
b
MeDIP-seq Raw Signal indicates that this is a DNA methylation site (UCSC Genome Browser, http://genome.ucsc.edu/).
Data from postmortem human frontal cortex gray matter of a 57 year-old male. This was done to investigate the role of intragenic, tissue-specific CpG island methylation plays in controlling gene expression. Hardy-Weinberg Equilibrium exact P-values were greater than 0.05.