Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10033900
rs10033900
CFI
T 0.840 GeneticVariation GWASDB Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344

2012

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988

2016

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation GWASCAT Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826

2010

dbSNP: rs10033900
rs10033900
CFI
T 0.840 GeneticVariation GWASDB Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990

2011

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation BEFREE Con-clusion: CFI rs10033900 and rs2285714 polymorphisms in a Turkish population were not associated with AMD. 31614353

2019

dbSNP: rs10033900
rs10033900
CFI
T 0.840 GeneticVariation GWASCAT Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990

2011

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation BEFREE There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possible interaction effect between LIPC and both CFH rs10033900 and the complement factor I (CFI) variants in terms of risk of AMD. 21139980

2010

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation BEFREE Individuals with the homozygous CFI rs10033900 TT genotype had a 2.9 [1.2-7.2]-fold increased risk, and those with the CFH Y402H GG genotype had a 2.2 [1.0-4.8]-fold higher risk of developing AMD compared with non-carriers. 21906714

2011

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation GWASDB Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826

2010

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation BEFREE To determine the impact of <i>HTRA1</i> rs1120638, <i>TIMP3</i> rs9621532, <i>VEGFA</i> rs833068, <i>CFI</i> rs10033900, <i>ERCC6</i> rs3793784, and <i>KCTD10</i> rs56209061 genotypes on the development of age-related macular degeneration (AMD) in the Lithuanian population. 31583032

2019

dbSNP: rs1005510
rs1005510
0.010 GeneticVariation BEFREE SERPING1 SNPs rs1005510 and rs2511989 were significantly associated with neovascular AMD in our cohort, with rs1005510 conferring an adverse risk effect (OR 1.49, 95% CI 1.18 to 1.88) and rs2511989 conferring a protective effect (OR 0.73, 95% CI 0.59 to 0.90). 20606025

2010

dbSNP: rs10191751
rs10191751
G 0.700 GeneticVariation GWASCAT Genome-wide analysis of disease progression in age-related macular degeneration. 29346644

2018

dbSNP: rs1021636
rs1021636
0.700 GeneticVariation GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725

2013

dbSNP: rs1024611
rs1024611
0.020 GeneticVariation BEFREE Linear univariate and ANCOVA modeling was performed to show the interaction of rs1024611 with another SNP variant of CCL-2/CCR-2 (rs4586 and rs1799865) and impact of individual genotypes on CCL-2 expression in the context of AMD pathology. 29664944

2018

dbSNP: rs1024611
rs1024611
0.020 GeneticVariation BEFREE To evaluate the association of CC-cytokine ligand 2 CCL2-2518 (rs1024611) single nucleotide polymorphism, complement factor H (CFH Y402H) and their possible interaction in developing advanced age-related macular degeneration (AMD). 27316788

2016

dbSNP: rs10272438
rs10272438
0.010 GeneticVariation BEFREE For example, our analysis of a published data set on age-related macular degeneration (AMD) not only confirmed a known genetic variant (P value = 2E-6) for AMD, but also revealed an unreported haplotype surrounding single-nucleotide polymorphism (SNP) rs10272438 on chromosome 7 that was significantly associated with AMD (P value = 0.0024). 18048322

2007

dbSNP: rs1033920857
rs1033920857
0.010 GeneticVariation BEFREE The p.Asp776Val and p.Asp829Asn variants were detected in cases 1 and 2, respectively, and predicted to be pathogenic; they were probably responsible for macular dystrophy in these patients. 28095140

2017

dbSNP: rs10411506
rs10411506
C3
0.010 GeneticVariation BEFREE The G allele of the C3 IVS2 rs2250656, but not other tested C3 SNPs of rs2230205, rs10411506, rs2230199, rs339392, and rs163913, was significantly associated with a reduced risk for AMD in the Chinese population (OR 0.605, 95% CI 0.39-0.93, p = 0.023), even after adjusting for age, gender, smoking status, CFH rs1061170, CFB rs4151667, and CFB rs641153 allele status (OR 0.58, 95% CI 0.35-0.96, p = 0.033). 19899988

2009

dbSNP: rs1042229
rs1042229
0.010 GeneticVariation BEFREE Homozygous G allele of rs1042229 was associated with exudative AMD (P=0.0394, odds ratio (OR)=2.27, 95% confident interval: 1.08-4.74), but not with PCV. 25277308

2014

dbSNP: rs1042579
rs1042579
0.010 GeneticVariation BEFREE Next generation sequencing (NGS) showed polymorphism in CFH (p.V62I in SCR1) and THBD (p.A473V), already known as pathogenic for C3GN, as well as a mutation in C3 (p.R102G) associated only with age-related macular degeneration (AMD) so far. 29592796

2018

dbSNP: rs1042663
rs1042663
0.700 GeneticVariation GWASDB Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 22694956

2012

dbSNP: rs1045216
rs1045216
0.730 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013

dbSNP: rs1045216
rs1045216
0.730 GeneticVariation BEFREE CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with AMD. 25050486

2014

dbSNP: rs1045216
rs1045216
0.730 GeneticVariation BEFREE Using a panel of 8854 SNPs associated with AAMD at p-values ≤5.0E-7 from a cohort of >30,000 elderly people, we identified SNPs in miRNA target-encoding constituents of: (1) regulator of complement activation (RCA) genes (rs390679, CFHR1, p≤2.14E-214 ; rs12140421, CFHR3, p≤4.63E-29); (2) genes of major histocompatibility complex (MHC) loci (rs4151672, CFB, p≤8.91E-41 ; rs115404146, HLA-C, p≤6.32E-12 ; rs1055821, HLA-B, p≤1.93E-9 ; rs1063355, HLA-DQB1, p≤6.82E-14); and (3) genes of the 10q26 AAMD locus (rs1045216, PLEKHA1, p≤4.17E-142 ; rs2672603, ARMS2, p≤7.14E-46). 28343170

2017

dbSNP: rs1045216
rs1045216
0.730 GeneticVariation BEFREE PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014), while all other polymorphisms were associated with an increased AMD risk (CX3CR1 839C/T, additive model: aOR=2.682, 95% CI=1.119-5.709, P=0.022, recessive model: aOR=2.729, 95% CI=1.141-6.048, P=0.010; CX3CR1 745G/A, additive model: aOR=2.614, 95% CI=1.231-6.012, P=0.020, recessive model: aOR=2.340, 95% CI=1.227-5.993, P=0.011; VEGFA +674C/T, additive model: aOR=1.601, 95% CI=1.253-2.179, P<0.001, dominant model: aOR=1.287, 95% CI=1.058-1.570, P<0.001, allele model: OR=1.220, 95% CI=1.118-1.427, P<0.001; VEGFA +936C/T, additive model: aOR=1.509, 95% CI=1.105-2.311, P<0.001, recessive model: aOR=1.432, 95% CI=1.027-2.192, P=0.009, dominant model: aOR=1.207, 95% CI=1.031-1.514, P0.001, allele model: aOR=1.216, 95% CI=1.062-1.408, P<0.001). 29565837

2018