Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3756703
rs3756703
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2546191
rs2546191
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. 28112199 2017
dbSNP: rs2546191
rs2546191
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0026764
Disease:
Multiple Myeloma 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. 28112199 2017
dbSNP: rs2546191
rs2546191
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0855095
Disease:
Small Lymphocytic Lymphoma 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. 28112199 2017
dbSNP: rs2546191
rs2546191
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0019829
Disease:
Hodgkin Disease 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. 28112199 2017
dbSNP: rs1423269
rs1423269
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0026764
Disease:
Multiple Myeloma 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. 27363682 2016
dbSNP: rs56219066
rs56219066
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0030489
Disease:
Paraproteinemias 		T 0.700 GeneticVariation GWASCAT Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. 26007630 2015
dbSNP: rs56219066
rs56219066
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0026470
Disease:
Monoclonal Gammopathy of Undetermined Significance 		T 0.700 GeneticVariation GWASCAT Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. 26007630 2015
dbSNP: rs56219066
rs56219066
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0026764
Disease:
Multiple Myeloma 		T 0.700 GeneticVariation GWASCAT Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. 26007630 2015
dbSNP: rs3777200
rs3777200
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0036836
Disease:
Serum total protein measurement 		T 0.700 GeneticVariation GWASDB Discovery and fine mapping of serum protein loci through transethnic meta-analysis. 23022100 2012
dbSNP: rs3777189
rs3777189
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0026764
Disease:
Multiple Myeloma 		0.010 GeneticVariation BEFREE One of these (rs3777189-C) co-locates with the best-supported lead variants for ELL2 expression and MM risk, and reduces binding of MAFF/G/K family transcription factors. 29695719 2018
dbSNP: rs3815768
rs3815768
Entrez Id: 22936
Gene Symbol: ELL2
ELL2
CUI: C0026764
Disease:
Multiple Myeloma 		0.010 GeneticVariation BEFREE We find that the MM risk allele harbours a Thr298Ala missense variant in an ELL2 domain required for transcription elongation. 26007630 2015