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.
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
36 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 0.947 197 1996 2016
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
42 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 0.918 167 1996 2018
Ferritin measurement
CUI: C0373607
Disease: Ferritin measurement
155 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 6 2009 2015
Finding of Mean Corpuscular Hemoglobin
4531 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 4 2011 2013
Mean Corpuscular Volume (result)
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
435 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 4 2009 2012
Erythrocyte Mean Corpuscular Hemoglobin Test
4531 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 4 2011 2013
Low density lipoprotein cholesterol measurement
676 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 2 2010 2014
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
814 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 2 2010 2014
Hemoglobin measurement
CUI: C0518015
Disease: Hemoglobin measurement
219 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 2 2009 2012
Hematocrit procedure
CUI: C0018935
Disease: Hematocrit procedure
212 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 1 2009 2009
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
178 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.800 1 2012 2012
Iron binding capacity total measurement
35 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 2 2011 2017
Total iron binding capacity function
35 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 2 2011 2017
Transferrin measurement
CUI: C0202105
Disease: Transferrin measurement
10 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2015 2015
Systemic arterial pressure
CUI: C1272641
Disease: Systemic arterial pressure
223 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2012 2012
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
256 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2017 2017
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
250 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2017 2017
Transferrin saturation measurement
CUI: C1277709
Disease: Transferrin saturation measurement
33 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2015 2015
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
223 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2012 2012
Aspartate aminotransferase measurement
108 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2011 2011
Unsaturated iron binding capacity measurement
33 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2015 2015
Blood pressure finding
CUI: C1271104
Disease: Blood pressure finding
223 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2012 2012
Serum iron measurement
CUI: C1318312
Disease: Serum iron measurement
24 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.700 1 2015 2015
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
22 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.100 0.934 136 1997 2018
Iron Overload
CUI: C0282193
Disease: Iron Overload
30 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.100 0.860 114 1997 2018