rs17342717, SLC17A1

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Finding of Mean Corpuscular Hemoglobin
0.800 GeneticVariation GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
Finding of Mean Corpuscular Hemoglobin
0.800 GeneticVariation GWASCAT A genome-wide association study of red blood cell traits using the electronic medical record. 20927387 2010
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
Mean Corpuscular Volume (result)
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
0.700 GeneticVariation GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
Ferritin measurement
CUI: C0373607
Disease: Ferritin measurement
0.700 GeneticVariation GWASCAT Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. 21208937 2011
Serum ferritin measurement
CUI: C0696113
Disease: Serum ferritin measurement
0.700 GeneticVariation GWASCAT Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. 21208937 2011
Iron level result
CUI: C0428578
Disease: Iron level result
0.700 GeneticVariation GWASDB Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. 21208937 2011
Ferritin measurement
CUI: C0373607
Disease: Ferritin measurement
0.700 GeneticVariation GWASCAT Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. 21149283 2011
Iron measurement
CUI: C0337439
Disease: Iron measurement
0.700 GeneticVariation GWASDB Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. 21208937 2011
Serum ferritin measurement
CUI: C0696113
Disease: Serum ferritin measurement
0.700 GeneticVariation GWASCAT Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. 21149283 2011
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB A genome-wide association study of red blood cell traits using the electronic medical record. 20927387 2010
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009