Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE Interaction analysis revealed the CFH SNP rs800292 has a highly significant interaction with the ANGPT2 SNP rs13269021 in nAMD and PCV in the combined analysis. 28192798 2017
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE The variant of I62V could be a promising genetic biomarker of PCV in Asian populations. 24520367 2014
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE FPR1 rs78488639 interacted with CFH rs800292, HTRA1 rs11200638, and smoking, enhancing risk to exudative AMD and PCV. 25277308 2014
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE A significant interaction between the CETP SNP rs3764261 and the CFH SNP rs800292 existed in both neovascular AMD and PCV, the rs800292 G allele conferring a significantly increased risk of the diseases only in individuals carrying the risk allele T of rs3764261. 24393350 2014
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE The MAF of rs800292 was significantly different between each type of PCV and control (p < 0.0001 and 0.0001 for Type 1 versus control and Type 2 versus control, respectively). 23289808 2013
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE With meta-analyses, variants in four genes were found to be significantly associated with PCV: LOC387715 rs10490924 (n=9, allelic odds ratio [OR]=2.27, p<0.00001), HTRA1 rs11200638 (n=4, OR=2.72, p<0.00001), CFH rs1061170 (n=4, OR=1.72, p<0.00001), CFH rs800292 (n=5, OR=2.10, p<0.00001), and C2 rs547154 (n=3, OR=0.56, p=0.01). 22509112 2012
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV with age, sex, smoking, and genetic background of ARMS2 A69S and CFH I62V (vs. typical AMD: P = 0.0073, odds ratio [OR] = 0.47; vs. PCV: P = 0.0083, OR = 0.53). 22232432 2012
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE The polypoidal CNV group included no subjects homozygous for the A/A genotype of rs800292, whereas 7% of the typical PCV group had this genotype. 21896867 2011
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE The genotyping of ARMS2 A69S is more informative than that of CFH I62V in understanding the clinical features in patients with PCV. 21397333 2011
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE CFH Y402H is associated with AMD, tAMD, and PCV, whereas I62V is associated with all three subtypes. 20574013 2010
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE The nonsynonymous variant I62V is a plausible candidate for a causal polymorphism leading to the development of PCV, given its potential for functional consequences on the CFH protein and our own statistical evidence. 19187823 2009
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.100 GeneticVariation BEFREE The SNPs rs3753394 and rs800292 of CFH and rs11200638 of HTRA1 are significantly associated with the risk of PCV in Chinese patients. 18515590 2008