Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.080 | GeneticVariation | BEFREE | Large-scale genome-wide association studies have identified several susceptibility variants associated with the risk of primary open-angle glaucoma (POAG), among which rs4236601 (CAV1/CAV2) at chromosome 7q31 and rs2157719 at chromosome 9p21 (CDKN2B-AS1). | 29111846 | 2018 |
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0.080 | GeneticVariation | BEFREE | We have thus confirmed the association of rs4236601 with POAG in different Chinese cohorts. | 27297022 | 2016 |
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0.080 | GeneticVariation | BEFREE | The A allele of CAV1 rs4236601 was found more frequently in the patients with POAG (p=0.008; OR=1.49) compared to the control individuals. | 25489222 | 2014 |
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0.080 | GeneticVariation | BEFREE | Association of single-nucleotide polymorphism rs4236601 near caveolin 1 and 2 with primary open-angle glaucoma: a meta-analysis. | 24034151 | 2014 |
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0.080 | GeneticVariation | BEFREE | We found significant associations between 10 CAV1/CAV2 SNPs and POAG (top SNP, rs4236601; pooled P = 2.61 × 10(-7)). | 24572674 | 2014 |
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0.080 | GeneticVariation | BEFREE | The minor allele frequency (MAF) of rs4236601 was 0.3 in controls and 0.31 in POAG patients. | 22876122 | 2012 |
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0.080 | GeneticVariation | BEFREE | A genome-wide association study has identified a common sequence variant at 7q31 (rs4236601 [A]) near the caveolin genes in patients with POAG. | 22128235 | 2011 |
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0.080 | GeneticVariation | BEFREE | We detected no statistical difference when we compared the allele frequencies of rs4236601</span> between POAG patients and control subjects (p=0.5). | 21321670 | 2011 |