Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
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
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
0.080 GeneticVariation BEFREE We have thus confirmed the association of rs4236601 with POAG in different Chinese cohorts. 27297022 2016
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
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
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
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
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
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
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
0.080 GeneticVariation BEFREE The minor allele frequency (MAF) of rs4236601 was 0.3 in controls and 0.31 in POAG patients. 22876122 2012
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
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
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
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