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
0.060 GeneticVariation BEFREE The MAF of rs1061170 was not significantly different between either type of PCV and control (p = 0.084 and 0.15, respectively). 23289808 2013
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.060 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
0.060 GeneticVariation BEFREE CFH Y402H and LOC387715 A69S are both significantly associated with PCV. 20688737 2010
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.060 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
0.060 GeneticVariation BEFREE We conducted an association analysis between CFH variants and PCV in a Japanese population, genotyping 12 tag single nucleotide polymorphisms (SNPs)-including rs3753394, rs800292 (I62V), and rs1061170 (Y402H)-that are highly representative of the common genetic variation in the CFH region. 19187823 2009
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.060 GeneticVariation BEFREE There was no significant difference in the incidence of CFH Y402H (P = 0.598) and HTRA1 rs11200638 (P = 0.290) between eyes with typical exudative AMD and with PCV. 18939352 2008