Source: GWASDB

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		A 0.700 GeneticVariation GWASDB A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697

2009
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.800 GeneticVariation GWASDB Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. 19820698

2009
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
CUI: C2239101
Disease: Hemoglobin, CTCAE
Hemoglobin, CTCAE 		0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. 19820698

2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		A 0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		A 0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		A 0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs2794720
rs2794720
HFE ; LOC108783645
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs2794719
rs2794719
HFE ; LOC108783645
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs2006736
rs2006736
HFE ; LOC108783645
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs1800702
rs1800702
HFE ; LOC108783645
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C2239101
Disease: Hemoglobin, CTCAE
Hemoglobin, CTCAE 		A 0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		A 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		A 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		A 0.700 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs2071303
rs2071303
HFE ; LOC108783645
CUI: C0018099
Disease: Gout
Gout 		0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846

2010
dbSNP: rs2071303
rs2071303
HFE ; LOC108783645
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846

2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		A 0.700 GeneticVariation GWASDB A genome-wide association study of red blood cell traits using the electronic medical record. 20927387

2010
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
CUI: C0337439
Disease: Iron measurement
Iron measurement 		C 0.700 GeneticVariation GWASDB Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. 21208937

2011
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
CUI: C0428578
Disease: Iron level result
Iron level result 		C 0.700 GeneticVariation GWASDB Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. 21208937

2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		A 0.800 GeneticVariation GWASDB Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. 21665994

2011
dbSNP: rs6918586
rs6918586
HFE
CUI: C0018099
Disease: Gout
Gout 		0.700 GeneticVariation GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215

2011
dbSNP: rs6918586
rs6918586
HFE
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215

2011
dbSNP: rs2071303
rs2071303
HFE ; LOC108783645
CUI: C0018099
Disease: Gout
Gout 		0.700 GeneticVariation GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215

2011
dbSNP: rs2071303
rs2071303
HFE ; LOC108783645
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215

2011