Table 1.
Gene | SNV | Location / Distance to Splice | SIFT / PPH2 | Population | Alelic p-value / OR (CI) |
---|---|---|---|---|---|
PDE2A | rs577536 | c.2112+3 A>G | * | EUR | p= 6.1*10^(-5) OR - 1.10 (95% CI. 0.98-1.23) |
3 bps | * | ALL | p=0.028 OR - 0.19 (95% CI. 0.05-0.67) | ||
PDE11A | rs75461311 | Intron | * | EUR | p=1.4*10^(-4) OR - 26.9 (95% CI. 6.40-113.0) |
> 10 bps | * | ALL | p=0.029 OR - 3.80 (95% CI. 1.30-11.1) | ||
PDE11A | rs79903863 |
p.Glu396Lys
p.Glu840Lys |
Damaging | EUR | p=6.1*10^(-5) OR - 1.10 (95% CI. 0.98-1.23) |
> 10 bps | Benign | ALL | p=1.1*10^(-5) OR - 0.00 (95% CI. 0.00-0.04) |
Unmeasurable
**: Absent data; EUR: European population; ALL: All 1092 individuals from 1000 Genome Project; OR: odds ratio; CI: confidence interval.