Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE A significant association was noted in CFH-rs800292, CFH-rs1410996, CFH-rs2274700, and HTRA1-rs11200638 with AMD development (P = 2.36x10(-5), 7.18x10(-5), 7.18x10(-5), 2.70x10(-7), respectively; population attributable risk = 57.3%, 57.8%, 57.8%, and 58.9%, respectively). 20132989

2010

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Contrary to previous reports, we show that rs11200638 SNP has no significant impact on HTRA1 promoter activity in three different cell lines, and HTRA1 mRNA expression exhibits no significant change between control and AMD retinas. 17884985

2007

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known AMD-associated SNPs, rs800292 (from complement factor H [CFH]) and rs11200638 (from HtrA serine peptidase 1 [HTRA1]), were genotyped in all study subjects using the TaqMan genotyping technology (Applied Biosystems, Foster City, CA). 24393350

2014

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE FPR1 rs78488639 interacted with CFH rs800292, HTRA1 rs11200638, and smoking, enhancing risk to exudative AMD and PCV. 25277308

2014

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined. 24080590

2013

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Homozygotes for the risk allele at rs11200638 had a 6.33-fold increased risk of PCV and a 13.77-fold increased risk of wet AMD when compared with homozygotes for the wild-type allele. 17692272

2007

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Homozygotes for the T allele of rs10490924 had an odds ratio (OR) of 8.6, with a 95% confidence interval (CI) of 3.5-20.8, and homozygotes for the A allele of rs11200638 had an OR of 10.7, with a 95% CI of 3.2-35.7, for having AMD (p<0.00001). 19065273

2008

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE However, after Bonferroni correction, the genotype and allele distributions of two SNPs in CFH (rs10737680, rs1410996), one SNP (rs10490924) in ARMS2 and one SNP (rs11200638) in HTRA1 differed significantly between the controls and AMD patients. 24865190

2014

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE HTRA1 rs11200638 G→A polymorphism and LOC387715/ARMS2 rs10490924 G→T polymorphism play important roles in AMD. 21031019

2010

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
A 0.900 GeneticVariation GWASDB HTRA1 promoter polymorphism in wet age-related macular degeneration. 17053108

2006

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
A 0.900 GeneticVariation GWASCAT HTRA1 promoter polymorphism in wet age-related macular degeneration. 17053108

2006

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE In addition, rs11200638 was significantly associated with soft confluent drusen, which are strongly immunolabeled with HTRA1 antibody in an AMD eye with GA similar to wet AMD. 17426452

2007

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE In this post hoc analysis of cross-sectional data from US participants in the Comparison of AMD Treatments Trials, genotyping was performed in 835 participants with TaqMan assays for the SNPs rs1061170 (Y402H variant in CFH), rs800292 (I62V variant in CFH), rs10490924 (A69S variant in ARMS2), rs11200638 (HTRA1), rs547154 (C2), rs2230199 (R102G variant in C3), rs10468017 (LIPC), and rs4151667 (L9H variant in CFB). 29801032

2018

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Likewise, HtrA1-rs11200638 was less clearly associated with AMD severity, whereas C2-rs9332739 and CFB-rs641153 showed no relation. 19169232

2009

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Many single-nucleotide polymorphisms (SNPs), including the previously reported variants rs10490924 (hypothetical LOC387715/ARMS2) and rs11200638 (HTRA1), defined 2 significant haplotypes associated with increased risk of neovascular AMD. 18164066

2008

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Mapping the genes for age-related macular degeneration (AMD) had not been successful until recent genome-wide association studies revealed Tyr402His in CFH and rs11200638 in HTRA1 as AMD-related genetic variants. 18316707

2008

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Moreover, recent reports have shown that the rs11200638, a single nucleotide polymorphism (SNP) in the promoter region of the HTRA1 gene, is strongly associated with an increased prevalence of age-related macular degeneration (AMD). 19798546

2010

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Moreover, the rs11200638-rs2672598 joint genotype AA-CC conferred higher risk to exudative AMD (43.11 folds) than PCV (3.68 folds). 27338780

2016

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Multiple studies demonstrate a strong association between three variants at chromosome 10q26 - rs10490924, del443ins54, and rs11200638 - near the age-related maculopathy susceptibility 2 (ARMS2) and high-temperature requirement factor A1 (HTRA1) genes with susceptibility to age-related macular degeneration (AMD). 20664794

2010

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Purpose.To determine the relationship of six genetic variants (rs10490924, rs3750848, del443ins54, rs3793917, rs11200638, and rs932275) localized to the ARMS2-HTRA1 region of chromosome 10, region q26, as risk factors for age-related macular degeneration (AMD), to define the haplotype structure of these six loci, and to confirm their genetic association with the disease.Methods. 19933195

2010

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Rs12153855C and rs9391734A alleles could further increase the susceptibility to AMD in subjects with rs800292, rs11200638 and rs429608 risk alleles. 26861912

2016

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Significant associations with both exudative AMD and PCV were observed in 11 of them and HTRA1 rs11200638</span>, with different genotypic distributions between exudative AMD and PCV (P < 0.001). 22491416

2012

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Significant associations were detected for exudative AMD with SNPs rs10490924:G>T in LOC387715 (A69S), and rs11200638:G>A in the promoter of HTRA1. 18682812

2008

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) in the LOC387715 (rs10490924), HTRA1 (rs11200638), and CFH (rs1061170) genes have been implicated in age-related macular degeneration (AMD). 18436811

2008

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE SNP rs10490924 on chromosome 10 in exon 1 of the ARMS2 gene showed a highly significant association with an odds ratio (OR) of 3.2 (95% CI 2.4-4.2) for the risk allele and rs11200638 located in the proximal promoter region of HTRA1 showed a higher significant association with an OR of 3.4 (95% CI 2.5-4.6) with our AMD cases. 19259132

2009