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 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.760 0.857 7 1999 2012
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.100 0.947 19 1999 2019
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
45 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.100 0.800 10 1999 2011
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.100 1.000 10 2000 2015
Porphyria Cutanea Tarda
CUI: C0162566
Disease: Porphyria Cutanea Tarda
39 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2003 2008
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
118 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2002 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2008 2008
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2004 2004
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
44 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2004 2004
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1 2008 2008
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2005 2005
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2008 2008
Chronic liver disease
CUI: C0341439
Disease: Chronic liver disease
14 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2007 2007
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2003 2003
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2010 2010
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2008 2008
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1 2013 2013
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
64 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2002 2002
Heart failure
CUI: C0018801
Disease: Heart failure
201 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2010 2010
HEMOCHROMATOSIS, TYPE 3
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
20 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2006 2006
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
43 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2006 2006
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2008 2008
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
63 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2015 2015
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2003 2003
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2009 2009