HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: Corpuscular Hemoglobin Concentration Mean ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 3 2012 2018
dbSNP: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 2 2010 2012
dbSNP: rs12346
rs12346 		0.925 0.120 6 26096818 3 prime UTR variant T/C snv 0.76
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1800702
rs1800702 		0.925 0.120 6 26086235 upstream gene variant C/G snv 0.37
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2006736
rs2006736 		0.925 0.120 6 26085789 upstream gene variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2071303
rs2071303 		0.882 0.120 6 26091108 splice region variant T/C snv 0.38 0.36
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2794719
rs2794719 		0.925 0.120 6 26088662 intron variant T/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2794720
rs2794720 		0.925 0.120 6 26086974 upstream gene variant G/C snv 0.37
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs707889
rs707889 		0.827 0.200 6 26095703 3 prime UTR variant G/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs79220007
rs79220007 		6 26098246 3 prime UTR variant T/C snv 3.8E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016