Skip to main content
. 2024 Oct 28;9:50. doi: 10.1038/s41525-024-00442-8

Table 2.

Missense and nonsense protein altering rare variant burden tests predict multiple genes associated with advanced AMD

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