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: C0017921
Disease:
Glycogen storage disease type II
0.100 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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.100 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: C0017921
Disease:
Glycogen storage disease type II
0.100 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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.100 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
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.100 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: C0017921
Disease:
Glycogen storage disease type II
0.100 GeneticVariation BEFREE FPR1 rs78488639 interacted with CFH rs800292, HTRA1 rs11200638, and smoking, enhancing risk to exudative AMD and PCV. 25277308 2014
dbSNP: rs11200638
rs11200638
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.100 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: C0017921
Disease:
Glycogen storage disease type II
0.100 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: C0017921
Disease:
Glycogen storage disease type II
0.100 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: C0017921
Disease:
Glycogen storage disease type II
0.100 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: C0017921
Disease:
Glycogen storage disease type II
0.100 GeneticVariation BEFREE We observed that homozygous risk genotypes (TT in rs10490924 and AA in rs11200638) were more strongly associated with AMD than the heterozygous genotypes (GT in rs10490924 and geographic atrophy in rs11200638) for both SNPs. 19491722 2009
dbSNP: rs11200638
rs11200638
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.100 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: C0017921
Disease:
Glycogen storage disease type II
0.100 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: C0017921
Disease:
Glycogen storage disease type II
0.100 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
dbSNP: rs11200638
rs11200638
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.100 GeneticVariation BEFREE The HTRA1 promoter polymorphism, rs11200638, is a strong candidate with a functional consequence that predisposes Japanese to develop neovascular AMD. 17438519 2007
dbSNP: rs11200638
rs11200638
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.100 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: rs2672598
rs2672598
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.010 GeneticVariation BEFREE Our results revealed that HTRA1 rs2672598 is more significantly associated with exudative AMD than PCV in ARMS2/HTRA1 region, and it is responsible for elevated HTRA1 transcriptional activity and HTRA1 protein expression. 27338780 2016
dbSNP: rs2293870
rs2293870
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.010 GeneticVariation BEFREE The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containing rs10490924 and rs11200638, showed as strong an association with increased susceptibility to neovascular AMD. 18164066 2008