Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
16 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 0.960 20 1996 2019
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
16 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 0.991 13 1996 2019
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
1037 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 6 2011 2018
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
1931 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 5 2011 2018
Corpuscular Hemoglobin Concentration Mean
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
4389 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 1.000 3 2012 2018
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
220 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 2 2011 2011
Hemoglobin measurement
CUI: C0518015
Disease: Hemoglobin measurement
224 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 1.000 2 2009 2016
Serum iron measurement
CUI: C1318312
Disease: Serum iron measurement
25 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 2 2011 2017
Diastolic blood pressure measurement
CUI: C1305849
Disease: Diastolic blood pressure measurement
81 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
Ferritin measurement
CUI: C0373607
Disease: Ferritin measurement
21 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Finding of Mean Corpuscular Hemoglobin
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
1206 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2018 2018
Hematocrit procedure
CUI: C0018935
Disease: Hematocrit procedure
216 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2016 2016
Hemoglobin, CTCAE
CUI: C2239101
Disease: Hemoglobin, CTCAE
26 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2009 2009
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
233 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.840 1.000 1 2011 2019
Iron level result
CUI: C0428578
Disease: Iron level result
16 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
Iron measurement
CUI: C0337439
Disease: Iron measurement
16 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
Mean blood pressure
CUI: C0428886
Disease: Mean blood pressure
344 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2016 2016
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
457 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2016 2016
RDW - Red blood cell distribution width result
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
988 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
1599 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2009 2009
Red cell distribution width determination
CUI: C0427460
Disease: Red cell distribution width determination
988 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Reticulocyte count (procedure)
CUI: C0206161
Disease: Reticulocyte count (procedure)
474 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2016 2016
Serum ferritin measurement
CUI: C0696113
Disease: Serum ferritin measurement
21 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Systolic blood pressure measurement
CUI: C1306620
Disease: Systolic blood pressure measurement
95 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
Transferrin saturation measurement
CUI: C1277709
Disease: Transferrin saturation measurement
36 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017