Table 4. Impact of non-synonymous mutations detected by SNP-chip and/or WES.
| SNP | Protein | Mutation | Frequency by WES (# positive/total) |
PolyPhen annotation (score) |
P value |
|---|---|---|---|---|---|
| rs3130981 |
CDSN |
N527D |
0/9 |
benign (0.004) |
2.6 × 10−5 |
| rs12489170 |
PARP15 |
G394R / G628R* |
4/9 |
probably damaging (1.0) |
6.7 × 10−5 |
| rs1453547 |
OR5A2 |
P172L |
7/9 |
probably damaging (0.997) |
8.5 × 10−4 |
| rs8181512 | OR52N2 | H791R | 9/9 | probably damaging (0.991) | 4 × 10−3 |
*
alternative splice variants; **Chi-square test