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.
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2011 2014
Common Variable Immunodeficiency
CUI: C0009447
Disease: Common Variable Immunodeficiency
85 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2005
Corpuscular Hemoglobin Concentration Mean
CUI: C4528257
Disease: 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
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 1998 2003
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 2006 2015
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 1999 1999
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2008 2019
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
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
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
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
43 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2000 2006
Hereditary spherocytosis
CUI: C0037889
Disease: Hereditary spherocytosis
13 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2003 2009
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
IgG Deficiency disorder
CUI: C0162539
Disease: IgG Deficiency disorder
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2005
Iron binding capacity total measurement
CUI: C1283048
Disease: 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
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2014
Liver Cirrhosis, Alcoholic
CUI: C0023891
Disease: Liver Cirrhosis, Alcoholic
15 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2002 2010
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 2006 2012
Malignant neoplasm of liver
CUI: C0345904
Disease: Malignant neoplasm of liver
88 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2000 2013
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2006 2010
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2011
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2011 2014
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2006 2011
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2006 2010