Table 1 of Collins, Mol Vis 2016; 22:454-471.


Table 1. Frequencies of common variants identified by Sanger sequencing within the mitochondrial 16s RNA gene (MT-RNR2).

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