Table 3. Results for the top hit in the POAG GWAS discovery sample, and all nominally significant replication results.
Phenotype | SNP | Location | Nearest gene(s) | Frequency of allele 1 in discovery cases, controls,(allele2)/Qtrait mean direction | Frequency of allele 1 in replication cases, controls,(allele2)/Qtrait mean direction | Discovery p-value | Replication p-value |
---|---|---|---|---|---|---|---|
Most significant GWAS region | |||||||
POAG |
rs11961171 |
chr6:11384014 |
NEDD9 |
A=0.1158, 0.05332 (G) |
A=0.04762, 0.06 (G) |
8.55E-13 |
0.5974 |
POAG |
rs967473 |
chr6:11437409 |
NEDD9 |
A=0.1899, 0.1407 (G) |
A=0.1382, 0.15 (G) |
0.000167 |
0.7538 |
POAG |
rs9366868 |
chr6:11811486 |
C6orf105 |
A=0.3329, 0.4098 (G) |
A=0.4041, 0.49 (G) |
2.59E-05 |
0.1074 |
Significant at replication | |||||||
avCCT |
rs17128941 |
chr14:92754850 |
C14orf130 (UBR7) |
T->C increasing CCT |
T->C increasing CCT |
5.52E-06 |
0.02743 |
avCDR |
rs4385494 |
chr8:136919236 |
KHDRBS3 |
T->G increasing CDR |
T->G increasing CDR |
4.51E-05 |
0.02937 |
HTG |
rs4237260 |
chr9:75931236 |
RORB |
C=0.3199, 0.233 (G) |
C=0.206, 0.35 (G) |
4.98E-07 |
0.001949* |
NTG | rs7785999 | chr7:32427787 | PDE1C, LSM5 | A=0.2692, 0.1467 (C) | A=0.09483, 0.1939 (C) | 9.22E-05 | 0.02932* |
This table gives the results of the most significant SNPs in the discovery sample and all nominally significant (p<0.05) results in the replication sample, including allele frequencies for risk analyses and direction of effect for quantitative trait analyses. *The effect is in opposite directions in the discovery and replication samples.