Gene: PLEKHA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045216
rs1045216
PLEKHA1
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
dbSNP: rs1045216
rs1045216
PLEKHA1
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
PLEKHA1
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
PLEKHA1
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: rs4146894
rs4146894
PLEKHA1
0.710 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs4146894
rs4146894
PLEKHA1
0.710 GeneticVariation BEFREE Polymorphisms rs4146894:G>A of Pleckstrin Homology Domain-containing Protein Family A member 1 (PLEKHA1) gene, rs10490924:G>T at LOC387715, and rs11200638:G>A of HTRA1 (HTRA serine peptidase 1) gene were analyzed in AMD cases (n=118, age=72.3+/-3.8 years old) and healthy controls (n=116, age=72.0+/-3.8 years old). 18079691

2007
dbSNP: rs10510110
rs10510110
PLEKHA1
0.700 GeneticVariation GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725

2013
dbSNP: rs10510110
rs10510110
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs10749466
rs10749466
PLEKHA1
0.700 GeneticVariation GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725

2013
dbSNP: rs10788284
rs10788284
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs10887149
rs10887149
PLEKHA1
0.700 GeneticVariation GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725

2013
dbSNP: rs10887150
rs10887150
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs10887151
rs10887151
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs11200594
rs11200594
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs11200595
rs11200595
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs11200604
rs11200604
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs11200629
rs11200629
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs17103488
rs17103488
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs17103522
rs17103522
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs2280141
rs2280141
PLEKHA1
0.700 GeneticVariation GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725

2013
dbSNP: rs2280141
rs2280141
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs2292626
rs2292626
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs2292627
rs2292627
PLEKHA1
C 0.700 GeneticVariation GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725

2013
dbSNP: rs2292627
rs2292627
PLEKHA1
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013
dbSNP: rs2421016
rs2421016
PLEKHA1
0.700 GeneticVariation GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725

2013