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 The haplotypes constructed of rs3793784-rs11200638 were found to be associated with AMD development, as well. 31583032

2019

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE To our knowledge, this is the first time the association between rs11200638 and overall age-related macular degeneration has been reported in South America. 28846052

2018

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 We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10<sup>-17</sup>), HTRA1 rs11200638 (P=5.47 × 10<sup>-17</sup>) and complement factor H gene (CFH) rs800292 (P=2.53 × 10<sup>-8</sup>) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10<sup>-8</sup>). 28703135

2017

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
A 0.900 GeneticVariation GWASCAT We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10<sup>-17</sup>), HTRA1 rs11200638 (P=5.47 × 10<sup>-17</sup>) and complement factor H gene (CFH) rs800292 (P=2.53 × 10<sup>-8</sup>) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10<sup>-8</sup>). 28703135

2017

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE We and others have previously identified several polymorphisms on chromosome 10q26 (HTRA1 rs11200638 as well as LOC387715 rs10490924 and c.372_815del443ins54) associated with AMD. 27841854

2017

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE This study shows that there was no association between the polymorphism rs11200638 in HTRA1 gene and response to anti-VEGF treatment of exudative AMD. 28637435

2017

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 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 To determine age-related macular degeneration (AMD) phenotypes associated with mutually exclusive homozygotic risk variants in rs1061170 (CFH) and rs11200638 (HTRA1). 25627090

2015

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 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 The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638. 23260260

2013

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 The ARMS2/HTRA1 genes at the 10q26 locus have been associated with risk of age-related macular degeneration (AMD), with the most significantly associated variants being A69S (rs10490924), del443ins54 (EU427539) and rs11200638. 23592919

2013

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The HTRA1 promoter SNP (rs11200638) and A69S at LOC387715/ARMS2 were associated with a poorer visual outcome for ranibizumab or bevacizumab treatment in neovascular AMD, suggesting strong pharmacogenetic associations with anti-VEGF treatment. 23582991

2013

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 There was also no significant association between Chlamydia species IgG seropositivity and AMD status or severity, in patients carrying at least one CFH Y402H risk allele (C) or HTRA1 rs11200638 risk allele (A), with univariate or logistic regression analysis. 22259222

2012

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE We investigated the frequency of Tyr402His polymorphism of the complement factor H (CFH) gene, Ser69Ala polymorphism at LOC387715, rs11200638 polymorphism of the HTRA1 gene and different apolipoprotein E (ApoE) alleles in Hungarian patients with AMD in order to determine the disease risk conferred by these factors. 19845562

2011

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The allele/genotype frequencies of CFH rs1061170 and HTRA1 rs11200638, two well-confirmed AMD-susceptible SNPs, were close to each other in the Han Chinese and Japanese population. 21609242

2011

dbSNP: rs11200638
rs11200638
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE We genotyped two SNPs that are located in the LOC387715 locus (rs10490924) and HTRA1 (rs11200638) in 137 cases of exudative AMD and 187 controls. 20456446

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 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 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