Table 3 of Sardell, Mol Vis 2016; 22:1062-1076.


Table 3. Details of the most strongly associated damaging exonic variants from Firth association test controlling for age and sex. P values of variants from exome-chip analysis of 33,976 cases and controls are also reported [36].

Rs ID Position Minor/majorallele MAF cases MAFcontrols β P-value Nearest gene Exome chip p value
rs2294066 8:2046700 T/C 0.18 0.04 2.71 1.32×10−4 MYOM2 0.73
rs440160 6:32023903 C/G 0.13 0.01 2.78 1.36×10−3 TNXB* 4.28×10−29
rs61739424 5:177683905 A/G 0.08 0 3.70 2.28×10−3 COL23A1 0.87
rs61738888 3:33728610 G/A 0.18 0.04 2.01 2.58×10−3 CLASP2 0.93
rs3735099 7:2472429 A/C 0 0.13 −3.50 2.68×10−3 CHST12 0.26
rs73210702 3:128751670 A/G 0 0.07 −3.60 2.92×10−3 EFCC1 0.26
rs117615621 17:4455266 T/G 0 0.06 −3.78 2.97×10−3 MYBBP1A 0.18
rs141133909 6:74161604 T/C 0.08 0 3.93 3.12×10−3 MB21D1 0.23
rs12138972 1:182873431 T/C 0 0.08 −3.52 3.28×10−3 SHCBP1L 0.89
rs1034405 3:50597092 G/A 0.19 0.06 1.88 3.77×10−3 C3orf18 0.11
rs2236200 20:60986019 C/A 0.13 0.33 −1.39 3.78×10−3 RBBP8NL 0.09
rs59371099 22:29885016 A/G 0.13 0.03 2.33 3.87×10−3 NEFH 0.58
rs35012290 4:47538044 A/G 0.15 0.01 2.32 4.00×10−3 ATP10D 0.94
rs11036815 11:5344681 A/G 0.23 0.42 −1.26 4.29×10−3 OR51B2 0.33
rs10951942 7:48081095 T/G 0.32 0.56 −1.33 4.55×10−3 C7orf57 0.01
rs754511 20:33575677 A/T 0 0.04 −3.65 4.83×10−3 MYH7B 0.65
rs12225230 11:116728630 C/G 0.31 0.11 1.41 4.92×10−3 SIK3 0.06
rs3818551 10:29581493 C/A 0.08 0.25 −1.51 4.95×10−3 LYZL1 0.12
*prior AMD locus