Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7385804
rs7385804
TFR2
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		C 0.700 GeneticVariation GWASCAT A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697

2009
dbSNP: rs9483788
rs9483788
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		G 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs2075671
rs2075671
ZAN
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		A 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs3218097
rs3218097
CCND3
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs218237
rs218237
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs495828
rs495828
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs2736100
rs2736100
TERT
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs11966072
rs11966072
CCDC162P
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs11611647
rs11611647
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs10495928
rs10495928
PRKCE
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.800 GeneticVariation GWASCAT A genome-wide association study of red blood cell traits using the electronic medical record. 20927387

2010
dbSNP: rs6569992
rs6569992
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		A 0.800 GeneticVariation GWASCAT A genome-wide association study of red blood cell traits using the electronic medical record. 20927387

2010
dbSNP: rs218238
rs218238
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		A 0.800 GeneticVariation GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517

2012
dbSNP: rs7529925
rs7529925
LINC01221
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		C 0.700 GeneticVariation GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517

2012
dbSNP: rs579459
rs579459
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.700 GeneticVariation GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517

2012
dbSNP: rs3811444
rs3811444
TRIM58
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.700 GeneticVariation GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517

2012
dbSNP: rs2075672
rs2075672
TFR2 ; ACTL6B
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517

2012
dbSNP: rs11104870
rs11104870
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		C 0.700 GeneticVariation GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517

2012
dbSNP: rs7203560
rs7203560
NPRL3
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		G 0.700 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863

2013
dbSNP: rs5987027
rs5987027
MPP1
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.700 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863

2013
dbSNP: rs1211375
rs1211375
LUC7L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863

2013
dbSNP: rs13335629
rs13335629
FAM234A
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT The alpha-globin locus on chromosome 16pter [lead SNP rs13335629 in ITFG3 gene; P < 1E-13 for hemoglobin (Hgb), RBC count, mean corpuscular volume (MCV), MCH and MCHC] and the G6PD locus on Xq28 [lead SNP rs1050828; P < 1E - 13 for Hgb, hematocrit (Hct), MCV, RBC count and red cell distribution width (RDW)] were each associated with multiple RBC traits. 23446634

2013
dbSNP: rs1050828
rs1050828
G6PD
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.700 GeneticVariation GWASCAT The alpha-globin locus on chromosome 16pter [lead SNP rs13335629 in ITFG3 gene; P < 1E-13 for hemoglobin (Hgb), RBC count, mean corpuscular volume (MCV), MCH and MCHC] and the G6PD locus on Xq28 [lead SNP rs1050828; P < 1E - 13 for Hgb, hematocrit (Hct), MCV, RBC count and red cell distribution width (RDW)] were each associated with multiple RBC traits. 23446634

2013
dbSNP: rs1050828
rs1050828
G6PD
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT The proportions of variance in RBC traits explained by significant variants at these loci were as follows: rs7120391 (near HBB) 1.3% of MCHC, rs9924561 (near HBA1/A2) 5.5% of MCV, 6.9% of MCH and 2.9% of MCHC, and rs1050828 (in G6PD) 2.4% of RBC count, 2.9% of MCV, and 1.4% of MCH, respectively. 23696099

2013