Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12982744
rs12982744
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0029408
Disease:
Degenerative polyarthritis 		0.810 GeneticVariation BEFREE The DOT1L rs12982744 OA risk allele was associated with reduced superior joint space in the subregional shape model (P = 2 × 10<sup>-3</sup> ). 29882636 2018
dbSNP: rs12982744
rs12982744
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0029408
Disease:
Degenerative polyarthritis 		G 0.810 GeneticVariation GWASCAT Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. 22566624 2012
dbSNP: rs12982744
rs12982744
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0029408
Disease:
Degenerative polyarthritis 		G 0.810 GeneticVariation GWASDB Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. 22566624 2012
dbSNP: rs11882273
rs11882273
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12459350
rs12459350
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 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: rs12986413
rs12986413
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs2864419
rs2864419
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs55678414
rs55678414
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs576345045
rs576345045
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs1003531
rs1003531
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs12459350
rs12459350
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs12459507
rs12459507
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
dbSNP: rs12610645
rs12610645
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0518015
Disease:
Hemoglobin measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs4807205
rs4807205
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs8108461
rs8108461
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0018935
Disease:
Hematocrit procedure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs12980348
rs12980348
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs12982593
rs12982593
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0518015
Disease:
Hemoglobin measurement 		0.700 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs2302061
rs2302061
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
dbSNP: rs11880992
rs11880992
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
dbSNP: rs11880992
rs11880992
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0489786
Disease:
Height 		A 0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607 2013
dbSNP: rs11880992
rs11880992
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607 2013
dbSNP: rs1015670
rs1015670
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs12982593
rs12982593
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs2074553
rs2074553
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs12982744
rs12982744
Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C0005890
Disease:
Body Height 		C 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010