Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2006736
rs2006736
HFE ; LOC108783645
0.925 0.120 6 26085789 upstream gene variant C/G;T snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs2006736
rs2006736
HFE ; LOC108783645
0.925 0.120 6 26085789 upstream gene variant C/G;T snv
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs2006736
rs2006736
HFE ; LOC108783645
0.925 0.120 6 26085789 upstream gene variant C/G;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2006736
rs2006736
HFE ; LOC108783645
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: rs1800702
rs1800702
HFE ; LOC108783645
0.925 0.120 6 26086235 upstream gene variant C/G snv 0.37
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1800702
rs1800702
HFE ; LOC108783645
0.925 0.120 6 26086235 upstream gene variant C/G snv 0.37
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs1800702
rs1800702
HFE ; LOC108783645
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: rs1800702
rs1800702
HFE ; LOC108783645
0.925 0.120 6 26086235 upstream gene variant C/G snv 0.37
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs2794720
rs2794720
HFE ; LOC108783645
0.925 0.120 6 26086974 upstream gene variant G/C snv 0.37
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs2794720
rs2794720
HFE ; LOC108783645
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: rs2794720
rs2794720
HFE ; LOC108783645
0.925 0.120 6 26086974 upstream gene variant G/C snv 0.37
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs2794720
rs2794720
HFE ; LOC108783645
0.925 0.120 6 26086974 upstream gene variant G/C snv 0.37
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs149342416
rs149342416
HFE ; LOC108783645
1.000 0.080 6 26087458 missense variant G/C snv 6.9E-04 7.0E-04
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 1.000 18 1996 2008
dbSNP: rs772608361
rs772608361
HFE ; LOC108783645
1.000 0.040 6 26087503 missense variant G/A;C snv 4.0E-06; 8.0E-06
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2013 2013
dbSNP: rs772608361
rs772608361
HFE ; LOC108783645
1.000 0.040 6 26087503 missense variant G/A;C snv 4.0E-06; 8.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2013 2013
dbSNP: rs2794719
rs2794719
HFE ; LOC108783645
0.925 0.120 6 26088662 intron variant T/C;G snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs2794719
rs2794719
HFE ; LOC108783645
0.925 0.120 6 26088662 intron variant T/C;G snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs2794719
rs2794719
HFE ; LOC108783645
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: rs2794719
rs2794719
HFE ; LOC108783645
0.925 0.120 6 26088662 intron variant T/C;G snv
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs2794719
rs2794719
HFE ; LOC108783645
0.925 0.120 6 26088662 intron variant T/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs9366637
rs9366637
HFE ; LOC108783645
1.000 0.040 6 26088870 intron variant C/T snv 0.10
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 0.500 2 2011 2013
dbSNP: rs56275179
rs56275179
HFE ; LOC108783645
1.000 0.040 6 26089112 intron variant G/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2019 2019
dbSNP: rs61472021
rs61472021
HFE ; LOC108783645
1.000 0.040 6 26089797 intron variant T/C snv 0.17
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs61472021
rs61472021
HFE ; LOC108783645
1.000 0.040 6 26089797 intron variant T/C snv 0.17
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs1561939338
rs1561939338
HFE ; LOC108783645
1.000 0.080 6 26090839 splice acceptor variant AGGT/TGGAGTC delins
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 0