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.
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 1.000 10 2006 2018
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
58 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.070 1.000 7 1999 2002
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 1.000 6 1998 2013
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
1037 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 6 2011 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 1.000 6 2004 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 1.000 6 2004 2016
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 1.000 5 2005 2015
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 1.000 5 2002 2008
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
81 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 1.000 5 1999 2012
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.840 1.000 5 2011 2019
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
1931 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 5 2011 2018
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 1998 2019
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 1998 2019
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
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
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
19 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2004 2019
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2002 2008
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2005 2015
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2003 2015
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
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
Corpuscular Hemoglobin Concentration Mean
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
4389 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 1.000 3 2012 2018