Table 2 Missense and nonsense protein altering rare variant burden tests predict multiple genes associated with advanced AMD
From: SLC16A8 is a causal contributor to age-related macular degeneration risk
Gene | Chr. | Variants (N) | Carriers (N) | Freq. Cases | Freq. Controls | OR | P |
|---|---|---|---|---|---|---|---|
Missense and/or Nonsense RV burden tests (P  10E-04) | |||||||
CFI | 4 | 40 | 218 | 0.0261 | 0.0072 | 4.57 | 3.13E-14 |
CFH | 1 | 39 | 322 | 0.0269 | 0.0192 | 2.05 | 2.14E-06 |
SLC16A8 | 22 | 25 | 440 | 0.0398 | 0.0240 | 1.78 | 1.50E-05 |
CFHR5 | 1 | 26 | 292 | 0.0119 | 0.0265 | 0.48 | 5.58E-05 |
AAED1 | 9 | 12 | 80 | 0.0084 | 0.0035 | 3.28 | 1.67E-04 |
RGS7 | 1 | 7 | 44 | 0.0046 | 0.0019 | 4.25 | 2.87E-04 |
MAP1S | 19 | 24 | 511 | 0.0322 | 0.0381 | 0.63 | 3.12E-04 |
OSGIN2 | 8 | 9 | 29 | 0.0020 | 0.0020 | 6.02 | 3.74E-04 |
Nonsense RV burden tests (P < 10E-04) | |||||||
SLC16A8 | 22 | 5 | 301 | 0.0284 | 0.0156 | 1.71 | 6.91E-04 |
DNAH3 | 16 | 26 | 67 | 0.0036 | 0.0054 | 0.32 | 8.53E-04 |
