Table 1 of Collins, Mol Vis 2016; 22:454-471.
rCRS variant | Cases (n=1,258) | Controls (n=832) | Odds ratio | P value | Replication group p value (n=1,389) | Combined p value (n=3,479) | Haplogroup(s) |
---|---|---|---|---|---|---|---|
m.2220A>G | 0.02 | 0.012 | 1.7 | 0.17 | 0.023* | 0.013* | L1c2b1a'b |
m.2220A>T | 0.004 | 0.002 | 1.6 | 0.711 | 0.358 | 0.289 | L4b2b1 |
m.2245A>G | 0.023 | 0.021 | 1.1 | 0.913 | 0.625 | 0.75 | L0a'b'f'g |
m.2245A>C | 0.017 | 0.016 | 1.1 | 0.989 | 0.18 | 0.423 | L0a1a2 |
m.2332C>T | 0.122 | 0.102 | 1.2 | 0.131 | 0.271 | 0.020* | L2b'c'd, L3b1a8 |
m.2352T>C | 0.246 | 0.294 | 0.8 | 0.017* | 0.6 | 0.113 | L1b, L3e |
m.2358A>G | 0.047 | 0.048 | 1 | 0.999 | 0.6 | 0.7 | L2b |
m.2395delA | 0.109 | 0.09 | 1.2 | 0.19 | 1 | 0.624 | L1c |
m.2416T>C | 0.317 | 0.263 | 1.2 | 0.008* | 0.767 | 0.017* | L2 |
m.2483T>C | 0.019 | 0.022 | 0.9 | 0.58 | 1 | 0.73 | L3e2b1a |
m.2706A>G | 0.975 | 0.966 | 0.7 | 0.24 | 1 | 0.341 | Many |
m.2758G>A | 0.238 | 0.22 | 1.1 | 0.352 | nd | Many | |
m.2768A>G | 0.091 | 0.093 | 1 | 0.942 | nd | L1b | |
m.2789C>T | 0.188 | 0.159 | 1.2 | 0.106 | nd | L2a1'2'3′4 | |
m.2885T>C | 0.241 | 0.223 | 1.1 | 0.375 | nd | Many | |
m.3010G>A | 0.052 | 0.051 | 1 | 0.953 | nd | L2a1c, H65a | |
m.3200T>A | 0.064 | 0.044 | 1.4 | 0.066 | nd | L2c |