Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2421016
rs2421016
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.800 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
dbSNP: rs2421016
rs2421016
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.800 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
dbSNP: rs2421016
rs2421016
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.800 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
dbSNP: rs10510110
rs10510110
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.800 GeneticVariation GWASCAT Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 24509480 2014
dbSNP: rs10510110
rs10510110
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.800 GeneticVariation GWASDB Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 24509480 2014
dbSNP: rs2421016
rs2421016
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.800 GeneticVariation GWASDB Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 24509480 2014
dbSNP: rs1045216
rs1045216
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0242383
Disease:
Age related macular degeneration 		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
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0242383
Disease:
Age related macular degeneration 		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
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0242383
Disease:
Age related macular degeneration 		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
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0242383
Disease:
Age related macular degeneration 		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
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0242383
Disease:
Age related macular degeneration 		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
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0242383
Disease:
Age related macular degeneration 		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: rs11200607
rs11200607
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0424678
Disease:
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
dbSNP: rs2280141
rs2280141
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2292626
rs2292626
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0005612
Disease:
Birth Weight 		T 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs2292626
rs2292626
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs3850765
rs3850765
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4752693
rs4752693
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7072204
rs7072204
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.700 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
dbSNP: rs7088058
rs7088058
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C4310768
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7088058
rs7088058
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7088058
rs7088058
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7088058
rs7088058
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0004364
Disease:
Autoimmune Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs71486610
rs71486610
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0005612
Disease:
Birth Weight 		C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs78438709
rs78438709
Entrez Id: 59338
Gene Symbol: PLEKHA1
PLEKHA1
CUI: C0018681
Disease:
Headache 		G 0.700 GeneticVariation GWASCAT A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773). 29397368 2018