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.
Multi-organ disorder
CUI: C1141933
Disease: Multi-organ disorder
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2010 2010
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
CUI: C1856170
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
Hyperferritinaemia
CUI: C3854388
Disease: Hyperferritinaemia
4 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2003 2012
Acquired Hypogammaglobulinemia
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
4 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2004 2004
Lymphoproliferative Disorder of the Skin
CUI: C1333177
Disease: Lymphoproliferative Disorder of the Skin
4 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2004 2004
Myelodysplasia
CUI: C0026985
Disease: Myelodysplasia
4 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2004 2004
Pearson's marrow-pancreas syndrome
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
4 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2007 2007
Beta thalassemia trait
CUI: C0878521
Disease: Beta thalassemia trait
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2005 2010
Calcium pyrophosphate deposition disease
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2007 2007
Cirrhosis, Cryptogenic
CUI: C0267809
Disease: Cirrhosis, Cryptogenic
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Ischemic cardiomyopathy
CUI: C0349782
Disease: Ischemic cardiomyopathy
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2001 2001
Pseudogout
CUI: C0033802
Disease: Pseudogout
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2007 2007
Tooth Attrition
CUI: C0004277
Disease: Tooth Attrition
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2003 2003
Endometrial Hyperplasia
CUI: C0014173
Disease: Endometrial Hyperplasia
6 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2015 2015
Familial porphyria cutanea tarda
CUI: C0268323
Disease: Familial porphyria cutanea tarda
6 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Lethargy
CUI: C0023380
Disease: Lethargy
6 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
Disorders of Porphyrin Metabolism
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
7 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2002 2002
Polymyalgia Rheumatica
CUI: C0032533
Disease: Polymyalgia Rheumatica
7 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2019 2019
Chronic viral hepatitis
CUI: C0276623
Disease: Chronic viral hepatitis
8 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2014 2014
Congenital hypoplasia of kidney
CUI: C0266295
Disease: Congenital hypoplasia of kidney
8 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2007 2007
Juvenile hemochromatosis
CUI: C0268060
Disease: Juvenile hemochromatosis
8 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2003 2003
Portal Hypertension
CUI: C0020541
Disease: Portal Hypertension
9 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2009 2009
Arthropathy
CUI: C0022408
Disease: Arthropathy
10 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.040 1.000 4 2006 2014
Back Pain
CUI: C0004604
Disease: Back Pain
10 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2019 2019
Generalized osteoarthritis
CUI: C1384584
Disease: Generalized osteoarthritis
10 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006