Table 2.
Gene | SNV | Location / Distance to Splice | SIFT / PPH2 | Population | Alelic p-value / OR (CI) |
---|---|---|---|---|---|
PDE1C | rs115957738 | p.Asp122 = > 10 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.184 OR - 0.18 (95% CI. 0.02-1.46) | |||
PDE1C | rs116449276 | Intron > 10 bps | * | EUR | p=0.001 OR - 1.06 (95% CI. 0.97-1.16) |
* | ALL | p=0.008 OR - 0.05 (95% CI. 0.01-0.27) | |||
PDE1C | rs76290787 | p.Ser175 = > 10 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.264 OR - 0.28 (95% CI. 0.03-2.20) | |||
PDE1C | rs78021925 | Intron > 10 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.452 OR - 1.72 (95% CI. 0.23-12.9) | |||
PDE2A | rs392818 | utr-3 > 10 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.483 OR - 0.63 (95% CI. 0.08-4.77) | |||
PDE2A | rs11824084 | utr-3 > 10 bps | * | EUR | p=0.001 OR - 1.06 (95% CI. 0.97-1.16) |
* | ALL | p=0.098 OR - 0.24 (95% CI. 0.05-1.06) | |||
PDE2A | rs4944557 | p.Asp572 = 9 bps | * | EUR | p=0.001 OR - 1.06 (95% CI. 0.97-1.16) |
* | ALL | p=0.381 OR - 0.63 (95% CI. 0.14-2.70) | |||
PDE4B | rs34492439 | p.Val388 = > 10 bps | * | EUR | p=0.003 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p= ** | |||
PDE4B | rs114408173 | Intron > 10 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.172 OR - 0.17 (95% CI. 0.02-1.35) | |||
PDE4B | rs7534999 | c.604-3 C>T 3 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.587 OR - 0.86 (95% CI. 0.11-6.41) | |||
PDE5A | rs3733526 | p.Ala93Val > 10 bps | Tolerated | EUR | p=0.052 OR - 0.51 (95% CI. 0.26-0.99) |
Benign | ALL | p=0.080 OR - 0.55 (95% CI. 0.29-1.04) | |||
PDE5A | rs114886951 | p.Ile778Thr 2 bps | Tolerated | EUR | p=0.034 OR - 16.1 (95% CI. 1.44-179.0) |
Damaging | ALL | p=0.005 OR - 46.4 (95% CI. 4.17-516.0) | |||
PDE6A | rs113309832 | Intron > 10 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.295 OR - 0.32 (95% CI. 0.04-2.52) | |||
PDE6B | rs61734864 | p.Val835 = 2 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.231 OR - 4.11 (95% CI. 0.53-31.8) | |||
PDE6B | rs73058408 | c.1722+5 G>A 5 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.014 OR - 1.03 (95% CI. 0.96-1.09) | |||
PDE6C | rs193276411 | Intron > 10 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.148 OR - 0.14 (95% CI. 0.01-1.14) | |||
PDE6C | rs76999928 | p.Asp157Glu 10 bps | Tolerated | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
Damaging | ALL | p=0.295 OR - 3.03 (95% CI. 0.39-23.1) | |||
PDE8A | rs148254104 | p.Leu350 = > 10 bps | * | EUR | p=0.011 OR - 0.00 (95% CI. 0.00-0.08) |
* | ALL | p= ** | |||
PDE8B | rs182775622 | p.Ala375 = > 10 bps | * | EUR | p=0.040 OR - 1.03 (95% CI. 0.96-1.09) |
* | ALL | p=0.028 OR - 0.01 (95% CI. 0.00-0.23) |
Unmeasurable
Absent data; EUR: European population; ALL: All 1092 individuals from 1000 Genome Project; OR: odds ratio; CI: confidence interval.