Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3803915
rs3803915
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0027051
Disease:
Myocardial Infarction 		C 0.800 GeneticVariation GWASCAT Our study identified two novel susceptibility loci for MI: PLCL2 on chromosome 3p24.3 (rs4618210:A>G, P = 2.60 × 10(-9), odds ratio (OR) = 0.91) and AP3D1-DOT1L-SF3A2 on chromosome 19p13.3 (rs3803915:A>C, P = 3.84 × 10(-9), OR = 0.89). 24916648 2015
dbSNP: rs3803915
rs3803915
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0027051
Disease:
Myocardial Infarction 		C 0.800 GeneticVariation GWASDB Our study identified two novel susceptibility loci for MI: PLCL2 on chromosome 3p24.3 (rs4618210:A>G, P = 2.60 × 10(-9), odds ratio (OR) = 0.91) and AP3D1-DOT1L-SF3A2 on chromosome 19p13.3 (rs3803915:A>C, P = 3.84 × 10(-9), OR = 0.89). 24916648 2015
dbSNP: rs12985850
rs12985850
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs183203602
rs183203602
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs35917214
rs35917214
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs4807203
rs4807203
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs57908212
rs57908212
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7249081
rs7249081
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
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: rs7249081
rs7249081
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0205682
Disease:
Waist-Hip Ratio 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs25673
rs25673
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs25673
rs25673
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs57908212
rs57908212
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0518015
Disease:
Hemoglobin measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs57908212
rs57908212
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0018935
Disease:
Hematocrit procedure 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs57908212
rs57908212
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2108825
rs2108825
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs2159213
rs2159213
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs2238599
rs2238599
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs2238612
rs2238612
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs879255646
rs879255646
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C4310746
Disease:
HERMANSKY-PUDLAK SYNDROME 10 		G 0.700 CausalMutation CLINVAR