Source: ALL
Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773243225
rs773243225
0.700 GeneticVariation CLINVAR Clinical Characterization of LRPAP1-Related Pediatric High Myopia. 26271838

2016

dbSNP: rs1057518881
rs1057518881
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518891
rs1057518891
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518909
rs1057518909
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518938
rs1057518938
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs121912882
rs121912882
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs28940881
rs28940881
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs533297350
rs533297350
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs569681869
rs569681869
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs61754381
rs61754381
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs773243225
rs773243225
0.700 GeneticVariation CLINVAR Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. 25525168

2015

dbSNP: rs773243225
rs773243225
0.700 GeneticVariation CLINVAR Mutations in LRPAP1 are associated with severe myopia in humans. 23830514

2013

dbSNP: rs773243225
rs773243225
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

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: rs13382811
rs13382811
0.010 GeneticVariation BEFREE Association and interaction of myopia with SNP markers rs13382811 and rs6469937 at <i>ZFHX1B</i> and <i>SNTB1</i> in Han Chinese and European populations. 28848321

2018

dbSNP: rs6469937
rs6469937
0.010 GeneticVariation BEFREE Association and interaction of myopia with SNP markers rs13382811 and rs6469937 at <i>ZFHX1B</i> and <i>SNTB1</i> in Han Chinese and European populations. 28848321

2018

dbSNP: rs10453441
rs10453441
0.010 GeneticVariation BEFREE We identify WNT7B as a novel susceptibility gene for axial length (rs10453441, Pmeta=3.9 × 10(-13)) and corneal curvature (Pmeta=2.9 × 10(-40)) and confirm the previously reported association between GJD2 and myopia. 25823570

2016

dbSNP: rs2137277
rs2137277
0.010 GeneticVariation BEFREE Three genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)). 24014484

2014

dbSNP: rs2969180
rs2969180
0.010 GeneticVariation BEFREE Three genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)). 24014484

2014

dbSNP: rs524952
rs524952
0.010 GeneticVariation BEFREE Three genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)). 24014484

2014

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

dbSNP: rs11225395
rs11225395
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