Source: ALL
Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518799
rs1057518799
0.700 GeneticVariation CLINVAR

dbSNP: rs1057518812
rs1057518812
0.700 CausalMutation CLINVAR

dbSNP: rs1057518829
rs1057518829
0.700 GeneticVariation CLINVAR

dbSNP: rs752134549
rs752134549
0.700 GeneticVariation CLINVAR

dbSNP: rs17122571
rs17122571
0.010 GeneticVariation BEFREE Significant association was identified between five SNPs (rs1034762, rs1635529, rs1793933, rs3803183, and rs17122571) of the COL2A1 locus and high-grade myopia (P < 0.045, minimum (min) P = 0.008) and with myopia status set at <or=-0.50 or -0.75 D (min P = 0.004) in the Duke dataset. 19387081

2009

dbSNP: rs3741834
rs3741834
LUM
0.010 GeneticVariation BEFREE Haplotype-specific tests showed that the C-C and T-C haplotypes were associated significantly with high myopia, with odds ratios (95% confidence intervals) of 19.32 (2.55-146.54) and 0.69 (0.46-1.04), respectively. rs3759223 and rs3741834 are in a putative regulatory element of the lumican gene, which influences fibrillogenesis of scleral collagen fibers and the development of myopia. 19616852

2009

dbSNP: rs3759223
rs3759223
LUM
0.010 GeneticVariation BEFREE Haplotype-specific tests showed that the C-C and T-C haplotypes were associated significantly with high myopia, with odds ratios (95% confidence intervals) of 19.32 (2.55-146.54) and 0.69 (0.46-1.04), respectively. rs3759223 and rs3741834 are in a putative regulatory element of the lumican gene, which influences fibrillogenesis of scleral collagen fibers and the development of myopia. 19616852

2009

dbSNP: rs10272030
rs10272030
HGF
0.010 GeneticVariation BEFREE Whereas the SNPs rs1743 (OR, 2.02; 95% CI, 1.19-3.43; P = .009), rs4732402 (OR, 2.03; 95% CI, 1.23-3.36; P = 0.005), rs12536657 (OR, 2.38; 95% CI, 1.40-4.05; P = 0.001), rs10272030 (OR, 2.22; 95% CI, 1.31-3.75; P = 0.003), and rs9642131 (OR, 2.44; 95% CI, 1.43-4.14; P = 0.001) showed significant association with low/moderate myopia. 20005573

2010

dbSNP: rs12536657
rs12536657
HGF
0.010 GeneticVariation BEFREE Whereas the SNPs rs1743 (OR, 2.02; 95% CI, 1.19-3.43; P = .009), rs4732402 (OR, 2.03; 95% CI, 1.23-3.36; P = 0.005), rs12536657 (OR, 2.38; 95% CI, 1.40-4.05; P = 0.001), rs10272030 (OR, 2.22; 95% CI, 1.31-3.75; P = 0.003), and rs9642131 (OR, 2.44; 95% CI, 1.43-4.14; P = 0.001) showed significant association with low/moderate myopia. 20005573

2010

dbSNP: rs1743
rs1743
HGF
0.010 GeneticVariation BEFREE Whereas the SNPs rs1743 (OR, 2.02; 95% CI, 1.19-3.43; P = .009), rs4732402 (OR, 2.03; 95% CI, 1.23-3.36; P = 0.005), rs12536657 (OR, 2.38; 95% CI, 1.40-4.05; P = 0.001), rs10272030 (OR, 2.22; 95% CI, 1.31-3.75; P = 0.003), and rs9642131 (OR, 2.44; 95% CI, 1.43-4.14; P = 0.001) showed significant association with low/moderate myopia. 20005573

2010

dbSNP: rs4732402
rs4732402
HGF
0.010 GeneticVariation BEFREE Whereas the SNPs rs1743 (OR, 2.02; 95% CI, 1.19-3.43; P = .009), rs4732402 (OR, 2.03; 95% CI, 1.23-3.36; P = 0.005), rs12536657 (OR, 2.38; 95% CI, 1.40-4.05; P = 0.001), rs10272030 (OR, 2.22; 95% CI, 1.31-3.75; P = 0.003), and rs9642131 (OR, 2.44; 95% CI, 1.43-4.14; P = 0.001) showed significant association with low/moderate myopia. 20005573

2010

dbSNP: rs9642131
rs9642131
HGF
0.010 GeneticVariation BEFREE Whereas the SNPs rs1743 (OR, 2.02; 95% CI, 1.19-3.43; P = .009), rs4732402 (OR, 2.03; 95% CI, 1.23-3.36; P = 0.005), rs12536657 (OR, 2.38; 95% CI, 1.40-4.05; P = 0.001), rs10272030 (OR, 2.22; 95% CI, 1.31-3.75; P = 0.003), and rs9642131 (OR, 2.44; 95% CI, 1.43-4.14; P = 0.001) showed significant association with low/moderate myopia. 20005573

2010

dbSNP: rs6214
rs6214
0.010 GeneticVariation BEFREE SNP rs6214 showed positive association with both the high-grade- and any-myopia groups (P=2x10(-3) and P=2x10(-3), respectively) after correction for multiple testing. 20435602

2010

dbSNP: rs2239182
rs2239182
VDR
0.010 GeneticVariation BEFREE In a subsample of less severely myopic white subjects between -0.75 and -4.00 D, three SNPs within VDR were significantly associated in a multivariate model after adjustment for multiple comparisons (rs2239182: odds ratio = 2.17, P = 0.007; rs3819545: odds ratio = 2.34, P = 0.003; rs2853559: odds ratio = 2.14, P = 0.0035), accounting for 12% of model variance over age alone. 21357399

2011

dbSNP: rs2853559
rs2853559
VDR
0.010 GeneticVariation BEFREE In a subsample of less severely myopic white subjects between -0.75 and -4.00 D, three SNPs within VDR were significantly associated in a multivariate model after adjustment for multiple comparisons (rs2239182: odds ratio = 2.17, P = 0.007; rs3819545: odds ratio = 2.34, P = 0.003; rs2853559: odds ratio = 2.14, P = 0.0035), accounting for 12% of model variance over age alone. 21357399

2011

dbSNP: rs3819545
rs3819545
VDR
0.010 GeneticVariation BEFREE In a subsample of less severely myopic white subjects between -0.75 and -4.00 D, three SNPs within VDR were significantly associated in a multivariate model after adjustment for multiple comparisons (rs2239182: odds ratio = 2.17, P = 0.007; rs3819545: odds ratio = 2.34, P = 0.003; rs2853559: odds ratio = 2.14, P = 0.0035), accounting for 12% of model variance over age alone. 21357399

2011

dbSNP: rs644242
rs644242
0.010 GeneticVariation BEFREE SNPs rs644242 and rs662702 had marginal significance (P = 0.063), and further analyses showed that these SNPs were associated with extreme myopia (≤ -11 D). 21421876

2011

dbSNP: rs662702
rs662702
0.010 GeneticVariation BEFREE The OR for extreme myopia was 2.1 (empiric P = 0.007) for the CC genotype at SNP rs662702 at the 3'UTR. 21421876

2011

dbSNP: rs12716080
rs12716080
0.010 GeneticVariation BEFREE One SNP, rs6885224, in CTNND2 showed significant differences in genotype and allele frequencies between high myopia and controls (genotype P = 2.17E×10(-5), allele P = 5.29E×10(-6), odds ratio [OR] = 0.69, 95% confidence interval [CI] = 0.591-0.812), as well as between moderate myopia and controls (genotype P = 0.009, allele P = 0.005, OR = 0.765, 95% CI = 0.633-0.924). rs12716080 showed no statistical difference between myopias and controls. 21911587

2011

dbSNP: rs6885224
rs6885224
0.010 GeneticVariation BEFREE The minor allele C of rs6885224 was protective against myopia in this study but was a risk allele in a previous study. 21911587

2011

dbSNP: rs10936538
rs10936538
0.010 GeneticVariation BEFREE Association was also significant for myopia (best association: OR = 0.80; 95% CI, 0.69-0.93; P = 0.003 for rs10936538). 22110064

2012

dbSNP: rs2010963
rs2010963
0.010 GeneticVariation BEFREE This association was successfully replicated in the additional 76 eyes with myopic CNV, and pooled analysis revealed significant association of rs2010963 with CNV size (P = 0.00078). 22427559

2012

dbSNP: rs10033900
rs10033900
CFI
0.010 GeneticVariation BEFREE One SNP (rs10033900) in the CFI gene, which encodes a protein involved in the inflammatory pathway, was significantly associated with myopic CNV in multivariate analysis after correction for multiple testing. 22678500

2012

dbSNP: rs4373767
rs4373767
0.010 GeneticVariation BEFREE The minor C allele of rs4373767 was also observed to significantly associate with decreased susceptibility to high myopia (per-allele odds ratio (OR) =0.75, 95% CI: 0.68-0.84, P(meta) =4.38 × 10(-7)) in 1,118 highly myopic cases and 5,433 controls. 22685421

2012

dbSNP: rs10488
rs10488
0.010 GeneticVariation BEFREE Initial findings indicated that the best p values for each trait were 0.02 for myopia at rs2274755 (MMP9), 0.02 for SE at both rs3740938 (MMP8) and rs131451 (MMP11), 0.01 for axial length at rs11225395 (MMP8), 0.01 for anterior chamber depth at rs498186 (MMP1) and 0.02 at rs10488 (MMP1). 23077567

2013