Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10160596
rs10160596
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10160596
rs10160596
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3741380
rs3741380
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3741380
rs3741380
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3741380
rs3741380
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs11606601
rs11606601
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs11606601
rs11606601
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C0427460
Disease:
Red cell distribution width determination 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs10160596
rs10160596
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10160596
rs10160596
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11227229
rs11227229
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C0427460
Disease:
Red cell distribution width determination 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11227229
rs11227229
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs4601790
rs4601790
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C1305849
Disease:
Diastolic blood pressure measurement 		G 0.700 GeneticVariation GWASCAT Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. 24954895 2014
dbSNP: rs4601790
rs4601790
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C0428883
Disease:
Diastolic blood pressure 		G 0.700 GeneticVariation GWASCAT Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. 24954895 2014
dbSNP: rs4601790
rs4601790
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C0428886
Disease:
Mean blood pressure 		G 0.700 GeneticVariation GWASCAT Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. 24954895 2014
dbSNP: rs4601790
rs4601790
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C0005823
Disease:
Blood Pressure 		G 0.700 GeneticVariation GWASCAT Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. 24954895 2014
dbSNP: rs6591182
rs6591182
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C0023890
Disease:
Liver Cirrhosis 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. 20708005 2010
dbSNP: rs6591182
rs6591182
Entrez Id: 254102
Gene Symbol: EHBP1L1
EHBP1L1
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. 20708005 2010