rs2301995, ELN

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.030 GeneticVariation BEFREE A statistically significant association was detected between the rs2301995 SNP and AMD (P = 0.018). 22003121 2011
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.030 GeneticVariation BEFREE Association analysis of allele and genotype frequencies, determined by TaqMan assays, was performed for the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the ELN locus in fifty-six patients with PCV, 368 patients with advanced age-related macular degeneration (AMD) and 368 age- and ethnically-matched unaffected controls. 21391811 2011
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.030 GeneticVariation BEFREE In contrast, there were significant differences in the genotype distribution between the controls and nAMD patients only for rs2301995 (ELN, p=0.022) and rs1801133 (MTHFR, p=2.50×10(-3)). 22065928 2011
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.020 GeneticVariation BEFREE Furthermore, subtype analysis revealed a significant association of rs2301995 with tAMD (P = 0.0018), but not with PCV. 22003121 2011
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.020 GeneticVariation BEFREE A statistically significant association was detected between the rs2301995 SNP and AMD (P = 0.018). 22003121 2011
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.020 GeneticVariation BEFREE The PCV phenotype in European-American patients is not associated with rs2301995 SNP in the ELN locus. 21391811 2011
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.020 GeneticVariation BEFREE In contrast, there were significant differences in the genotype distribution between the controls and nAMD patients only for rs2301995 (ELN, p=0.022) and rs1801133 (MTHFR, p=2.50×10(-3)). 22065928 2011