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: 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: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 6 2011 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 5 2011 2018
dbSNP: rs2071303
rs2071303
HFE ; LOC108783645
0.882 0.120 6 26091108 splice region variant T/C snv 0.38 0.36
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 3 2010 2013
dbSNP: rs2071303
rs2071303
HFE ; LOC108783645
0.882 0.120 6 26091108 splice region variant T/C snv 0.38 0.36
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 3 2010 2013
dbSNP: rs12346
rs12346
HFE
0.925 0.120 6 26096818 3 prime UTR variant T/C snv 0.76
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 2 2011 2013
dbSNP: rs12346
rs12346
HFE
0.925 0.120 6 26096818 3 prime UTR variant T/C snv 0.76
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 2 2011 2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		0.700 1.000 2 2011 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 2 2011 2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
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: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 2 2011 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0373607
Disease: Ferritin measurement
Ferritin measurement 		0.700 1.000 2 2011 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C2239101
Disease: Hemoglobin, CTCAE
Hemoglobin, CTCAE 		0.700 1.000 2 2009 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0696113
Disease: Serum ferritin measurement
Serum ferritin measurement 		0.700 1.000 2 2011 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		0.700 1.000 2 2011 2017
dbSNP: rs6918586
rs6918586
HFE
0.882 0.160 6 26097156 3 prime UTR variant T/C snv 0.45
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 2 2011 2013
dbSNP: rs6918586
rs6918586
HFE
0.882 0.160 6 26097156 3 prime UTR variant T/C snv 0.45
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 2 2011 2013
dbSNP: rs12346
rs12346
HFE
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: rs1572982
rs1572982
HFE
0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 1.000 1 2018 2018
dbSNP: rs1572982
rs1572982
HFE
0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs1572982
rs1572982
HFE
0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.700 1.000 1 2011 2011