Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657380
rs876657380
ARID1B
C 0.700 CausalMutation CLINVAR

dbSNP: rs4948523
rs4948523
BICC1
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
dbSNP: rs5022942
rs5022942
BMP3
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
dbSNP: rs1555639076
rs1555639076
BPTF
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs397507478
rs397507478
BRAF
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518829
rs1057518829
CACNA1F
A 0.700 GeneticVariation CLINVAR

dbSNP: rs11873439
rs11873439
CCDC102B
0.010 GeneticVariation BEFREE Our two-stage genome-wide association study of myopic maculopathy identifies a susceptibility locus at rs11873439 in an intron of CCDC102B (P = 1.77 × 10<sup>-12</sup> and P<sub>corr</sub> = 1.61 × 10<sup>-10</sup>). 29725004

2018
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
T 0.700 GeneticVariation CLINVAR

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: rs1057518891
rs1057518891
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064583
rs1064583
COL10A1 ; NT5DC1
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
dbSNP: rs1553200431
rs1553200431
COL11A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1635529
rs1635529
COL2A1
0.010 GeneticVariation BEFREE Association studies have revealed that the rs1635529 polymorphism in the COL2A1 (collagen, type Ⅱ, α 1) gene may be a potential candidate for myopia development and may be associated with myopia in Caucasians. 21993774

2012
dbSNP: rs121912882
rs121912882
COL2A1 ; LOC105369752
A 0.700 CausalMutation CLINVAR

dbSNP: rs533297350
rs533297350
COL4A4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs569681869
rs569681869
COL4A4
G 0.700 GeneticVariation CLINVAR

dbSNP: rs3760753
rs3760753
COL5A3 ; RDH8
0.010 GeneticVariation BEFREE Three single nucleotide polymorphisms (SNPs) [RDH851 (rs2233789), RDH8E5a (rs1644731), and RDH855b (rs3760753)] were selected, based on the linkage disequilibrium pattern of RDH8 from a previous study, and genotyped for 160 Han Chinese nuclear families with highly myopic (-10 diopters or worse) offspring as well as in an independent group with 166 highly myopic cases (-10 diopters or worse) and 211 controls. 21043051

2010
dbSNP: rs1569518070
rs1569518070
COL6A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs669676
rs669676
COL8A1
0.010 GeneticVariation BEFREE We found that in the univariate analysis that both single-nucleotide polymorphisms in COL8A1 gene (rs13095226 and rs669676) together with age, sex and hypertension were significantly associated with myopic CNV development in Spanish patients (p<0.05). 27643879

2016
dbSNP: rs34016308
rs34016308
CPSF2
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
dbSNP: rs397515624
rs397515624
CRYAA ; LOC107987300
0.010 GeneticVariation BEFREE Elongation of axial length accompanied with myopia was a novel phenotype in the family with the c.34C>T mutation in CRYAA. 21686328

2011
dbSNP: rs6885224
rs6885224
CTNND2
0.020 GeneticVariation BEFREE For the CTNND2 gene, neither rs6885224 nor rs12716080 was significantly associated with myopia {rs6885224: [OR and 95%CI: 1.051 (0.795-1.391), p=0.725], rs12716080: [OR and 95%CI: 1.173 (0.990-1.390), p=0.065]}. 24672220

2014
dbSNP: rs6885224
rs6885224
CTNND2
0.020 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: rs12716080
rs12716080
CTNND2
0.010 GeneticVariation BEFREE For the CTNND2 gene, neither rs6885224 nor rs12716080 was significantly associated with myopia {rs6885224: [OR and 95%CI: 1.051 (0.795-1.391), p=0.725], rs12716080: [OR and 95%CI: 1.173 (0.990-1.390), p=0.065]}. 24672220

2014
dbSNP: rs2155413
rs2155413
DLG2
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016