Source: ALL
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
62 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.900 0.976 248 1996 2019
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 0.973 260 1997 2019
Mean Corpuscular Volume (result)
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
549 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 4 2009 2012
Finding of Mean Corpuscular Hemoglobin
1206 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 3 2010 2013
Low density lipoprotein cholesterol measurement
1142 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 3 2010 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 3 2010 2018
Hematocrit procedure
CUI: C0018935
Disease: Hematocrit procedure
216 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 2 2009 2017
Hemoglobin measurement
CUI: C0518015
Disease: Hemoglobin measurement
224 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 2 2009 2012
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
535 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 1 2011 2011
Corpuscular Hemoglobin Concentration Mean
4389 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2010 2012
Ferritin measurement
CUI: C0373607
Disease: Ferritin measurement
21 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2011 2014
Hemoglobin, CTCAE
CUI: C2239101
Disease: Hemoglobin, CTCAE
26 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2009 2012
Iron binding capacity total measurement
35 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2011 2017
Serum ferritin measurement
CUI: C0696113
Disease: Serum ferritin measurement
21 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2011 2014
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
555 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2010 2013
Total iron binding capacity function
35 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2011 2017
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
1037 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2017 2017
Mean corpuscular hemoglobin concentration determination
19 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2012 2012
Osteoarthritis of hip
CUI: C0029410
Disease: Osteoarthritis of hip
121 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2018 2018
Pseudocholinesterase Measurement
CUI: C1168443
Disease: Pseudocholinesterase Measurement
568 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2011 2011
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
1599 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2016 2016
Serum iron measurement
CUI: C1318312
Disease: Serum iron measurement
25 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014
Serum transferrin measurement
CUI: C0428545
Disease: Serum transferrin measurement
10 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014
Systolic blood pressure measurement
CUI: C1306620
Disease: Systolic blood pressure measurement
95 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2011 2011
Transferrin measurement
CUI: C0202105
Disease: Transferrin measurement
10 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014