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. 2019 Nov 27;2:435. doi: 10.1038/s42003-019-0634-9

Table 1.

Genome-wide significant SNPs newly identified for cup area, disc area, vertical cup–disc ratio, intraocular pressure or central corneal thickness in the European HRC discovery.

Trait rsID Chr:pos Nearest Gene EA Nj Freq β SE p Value I2 HetP βj SEj p Valuej
DA rs4748969 10:25015618 ARHGAP21 A 25126 0.277 −0.025 0.004 1.69E−08 0 0.568 −0.025 0.004 1.77E−08
DA rs10882283 10:95360964 RBP4 C 23525 0.377 −0.023 0.004 3.68E−08 0 0.864 −0.023 0.004 3.38E−08
CA rs7101609 11:92623493 FAT3 G 26056 0.354 −0.013 0.002 2.06E−08 0 0.772 −0.013 0.002 1.25E−08
CA rs1622797 16:86379107 LINC00917 T 24593 0.089 0.022 0.004 3.41E−08 45 0.069 0.022 0.004 3.87E−08
DA rs6119893 20:31142813 C20orf112 T 25347 0.327 −0.024 0.004 1.06E−08 0 0.542 −0.024 0.004 9.78E−09
CAa rs2412973 22:30529631 HORMAD2 A 26675 0.442 0.013 0.002 5.06E−09 45.9 0.063 0.013 0.002 3.89E−09
VCDRa rs2412973 22:30529631 HORMAD2 A 27448 0.442 0.008 0.001 1.97E−09 70.2 0.001 0.008 0.001 1.96E−09
VCDR rs115456027 5:87919700 LINC00461 T 25273 0.078 0.016 0.003 1.66E−10 49.2 0.046 0.016 0.003 2.08E−10
CAb rs17135931 6:625188 EXOC2 A 26267 0.189 0.015 0.003 6.25E−08 0 0.537 0.015 0.003 3.86E−08
IOP rs9853115 3:186131600 RP11-78H24.1 A 32544 0.496 −0.158 0.027 2.85E−09 0 0.666 −0.158 0.027 2.91E−09
IOP rs150202082 18:53027723 TCF4 T 30915 0.027 −0.47 0.085 2.97E−08 17.9 0.273 −0.47 0.085 3.06E−08
CCT rs34869 5:115152694 CDO1 C 17810 0.437 2.797 0.397 1.97E−12 0 0.93 2.797 0.398 2.1E−12
CCT rs1772570 13:81193433 HNRNPA1P31 C 18158 0.315 −2.368 0.42 1.74E−08 37.4 0.101 −2.368 0.421 1.79E−08
CCT rs511651 18:24357736 AQP4-AS1 C 18457 0.319 2.452 0.416 3.81E−09 0 0.644 2.452 0.416 3.93E−09

DA disc area, CA cup area, VCDR vertical cup–disc ratio, IOP intraocular pressure, CCT central corneal thickness. The position (Chr:pos) of the variant is the position in GRCh37/hg19. The Freq column is the frequency of the effect allele (EA) and the β column is the effect of the effect allele. N is the effective sample size and is determined by GCTA. βj, SEβj, and p valuej are the effect size, standard error, and p value from a joint analysis of all the selected SNPs, as determined by GCTA. The per cohort statistics can be found in the Supplementary Data 5.

aVariant previously identified for DA by Springelkamp et al.38

bVariant previously identified for VCDR by Springelkamp et al.39