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.
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2002 2017
Beta thalassemia trait
CUI: C0878521
Disease: Beta thalassemia trait
5 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2004 2010
beta Thalassemia, heterozygous
CUI: C0878520
Disease: beta Thalassemia, heterozygous
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2001 2005
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
44 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2002 2017
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
220 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 2 2011 2011
Brain Infarction
CUI: C0751955
Disease: Brain Infarction
11 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2001 2001
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.080 0.875 8 2006 2015
Calcium pyrophosphate deposition disease
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
5 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2007 2007
Carcinoma of Male Breast
CUI: C0238033
Disease: Carcinoma of Male Breast
38 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 1998 1998
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2008 2008
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2002 2018
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2010 2014
Cerebral Infarction
CUI: C0007785
Disease: Cerebral Infarction
123 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2002 2007
Childhood Acute Lymphoblastic Leukemia
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
261 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 1.000 5 2002 2017
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2010 2014
Childhood Non-Hodgkin Lymphoma
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
39 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
Childhood Solid Neoplasm
CUI: C0279068
Disease: Childhood Solid Neoplasm
3 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
Chronic active hepatitis
CUI: C0520463
Disease: Chronic active hepatitis
34 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 1999 1999
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
306 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
Chronic Kidney Insufficiency
CUI: C0403447
Disease: Chronic Kidney Insufficiency
12 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
Chronic liver disease
CUI: C0341439
Disease: Chronic liver disease
14 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2017 2017
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004