Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11200638
rs11200638
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE We demonstrate that a single-nucleotide polymorphism, rs11200638, in the promoter region of HTRA1 is the most likely causal variant for AMD at 10q26 and is estimated to confer a population attributable risk of 49.3%. 17053109 2006
dbSNP: rs11200638
rs11200638
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. 17568988 2007
dbSNP: rs11200638
rs11200638
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE We demonstrate that rs1120</span>0638 in the promoter region and rs2293870 in exon 1 of HTRA1, are among the most significantly associated variants for advanced forms of AMD. 18207215 2008
dbSNP: rs11200638
rs11200638
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE The ORs of exudative AMD for individuals carrying one copy risk allele and two copy risk alleles were 2.57 (1.21 - 5.45) and 4.76 (2.15 - 10.55) respectively, with correspondent PARs of 28.3% (2.0% - 40.5%) and 38.2% (21.8% - 45.4%). rs11200638 in HTRA1 was another susceptible locus for AMD and the risk homozygotes were significantly susceptible for exudutive AMD (OR = 3.98, 1.88 - 8.43) with PAR of 38.9% (24.3% - 45.8%). 19187590 2008
dbSNP: rs11200638
rs11200638
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0242383
Disease:
Age related macular degeneration
0.900 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