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. Author manuscript; available in PMC: 2019 Jun 1.
Published in final edited form as: Ophthalmology. 2018 Feb 1;125(6):815–821. doi: 10.1016/j.ophtha.2017.12.014

Table 2.

Previously reported single nucleotide polymorphisms included in genetic risk scores for vertical cup-disc ratio

Chr Nearest Gene SNP Alleles VCDR-
increasing
allele
Frequency of
VCDR-increasing
allele
Weight Reference
1 RERE rs301801 T/C C 0.21 0.008 10
1 RERE rs12025126 T/C T 0.59 0.011 9
1 RPE65 rs1925953 A/T T 0.68 0.006 12
1 CDC7/TGFBR3 rs1192414 A/G A 0.28 0.014 12
1 CDC7/TGFBR3 rs4658101 A/G A 0.29 0.013 12
1 F5 rs10753787 T/C C 0.75 0.007 12
3 FLNB rs6764184 G/T T 0.29 0.007 12
3 COL8A1 rs2623325 C/A A 0.23 0.016 10
3 COL8A1 rs6804624 T/C C 0.37 0.008 12
3 COL8A1 rs1997404 T/G G 0.26 0.008 12
5 PDZD2 rs72759609 T/C T 0.91 0.012 12
5 VCAN rs7717697 T/C T 0.64 0.007 12
5 DUSP1 rs17658229 T/C T 0.99 0.02 10
5 DUSP1 rs114503346 C/T C 0.99 0.021 12
5 DUSP1 rs35084382 T/C T 0.99 0.018 12
6 EXOC2 rs17756712 A/G G 0.18 0.01 10
6 RREB1 rs4960295 G/A A 0.51 0.007 12
6 HSF2 rs868153 T/G T 0.74 0.007 10
7 DGKB rs10274998 C/T T 0.41 0.008 12
8 CRISPLD1 rs117598310 G/T T 0.05 0.009 12
8 PSCA rs2920293 C/G C 0.47 0.006 12
9 CDKN2B rs1063192 G/A A 0.81 0.014 9
9 CDKN2BAS rs7865618 G/A A 0.81 0.013 10
9 CDKN2B/AS1 rs2157719 C/T T 0.81 0.013 12
9 CDKN2B/AS1 rs1360589 C/T T 0.82 0.013 12
10 ATOH7 rs7916697 A/G G 0.62 0.018 12
10 ATOH7 rs7916410 T/C C 0.64 0.018 12
10 ATOH7 rs1900005 A/C C 0.64 0.018 10
10 ATOH7/PBLD rs1900004 C/T C 0.64 0.013 9
10 PLCE1 rs3891783 C/G G 0.37 0.007 12
10 PLCE1 rs1830890 A/G G 0.28 0.006 12
10 PLCE1 rs7072574 G/A A 0.28 0.009 10
10 ENO4 rs1681739 C/T T 0.31 0.006 12
11 SCYL1 rs17146964 A/G A 0.86 0.014 9
11 SSSCA1 rs1346 A/T A 0.86 0.013 12
11 ADAMTS8 rs4936099 C/A A 0.71 0.007 12
12 RPAP3 rs11168187 A/G A 0.87 0.009 10
12 TMTC2 rs10862688 A/G G 0.25 0.008 10
12 TMTC2 rs442376 T/C C 0.60 0.011 12
12 TMTC2 rs482507 C/T T 0.59 0.011 12
12 TMTC2 rs324780 G/A A 0.61 0.011 12
12 FAM101A rs7311936 G/C G 0.67 0.006 12
13 DCLK1 rs7323428 G/T T 0.31 0.007 12
13 DCLK1 rs1926320 T/C C 0.32 0.012 9
14 SIX1/6 rs4901977 C/T T 0.25 0.011 10
14 SIX6 rs4436712 G/T T 0.34 0.009 12
14 SIX6 rs8015152 C/T T 0.27 0.01 12
14 SIX1 rs10483727 T/C T 0.35 0.012 9
14 SIX6 rs34935520 G/A G 0.35 0.009 12
15 FAM169B rs6598351 C/T T 0.12 0.006 12
15 ASB7 rs60779155 G/A A 0.34 0.01 12
15 ASB7 rs34222435 C/T T 0.33 0.01 12
15 ASB7 rs4299136 G/C C 0.33 0.01 12
16 SALL1 rs11646917 G/T G 0.71 0.009 12
16 SALL1 rs4784295 C/G C 0.18 0.009 12
16 SALL1 rs1345467 G/A G 0.17 0.009 12
17 BCAS3 rs8068952 G/C C 0.81 0.012 9
19 ARID3A rs2159128 G/T T 0.14 0.019 9
20 BMP2 rs6054374 C/T C 0.46 0.007 10
20 BMP2 rs6054375 G/T G 0.47 0.01 12
20 BMP2 rs6107845 G/A G 0.48 0.009 12
22 CHEK2 rs1547014 T/C C 0.67 0.013 10
22 CHEK2 rs5762752 C/G G 0.65 0.011 12
22 CHEK2 rs5752773 G/C C 0.67 0.012 12
22 CHEK2 rs738722 T/C C 0.69 0.012 12
22 CARD10 rs2092172 G/A A 0.18 0.009 12
22 CARD10 rs56385951 G/A A 0.09 0.011 12
22 CARD10 rs5756813 G/T G 0.41 0.008 10