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.
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
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
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2002 2006
Complications of Diabetes Mellitus
CUI: C0342257
Disease: Complications of Diabetes Mellitus
35 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2002 2002
Disorders of Porphyrin Metabolism
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
7 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2002 2002
Hematological Disease
CUI: C0018939
Disease: Hematological Disease
16 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2002 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 0.882 17 2003 2016
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
Iron deficiency
CUI: C0240066
Disease: Iron deficiency
13 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2003 2019
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.720 1.000 2 2003 2010
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
64 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2003 2006
Hepatitis, Chronic
CUI: C0019189
Disease: Hepatitis, Chronic
10 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2003 2009
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2003 2011
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
Gilbert Disease (disorder)
CUI: C0017551
Disease: Gilbert Disease (disorder)
29 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
Hereditary spherocytosis
CUI: C0037889
Disease: Hereditary spherocytosis
13 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
Myocardial Ischemia
CUI: C0151744
Disease: Myocardial Ischemia
103 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
37 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2003 2003
Proliferative diabetic retinopathy
CUI: C0154830
Disease: Proliferative diabetic retinopathy
45 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
Refractory anaemia with excess blasts
CUI: C0002894
Disease: Refractory anaemia with excess blasts
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
Refractory anemia with ringed sideroblasts
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
3 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
Refractory anemias
CUI: C0002893
Disease: Refractory anemias
11 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
Thalassemia Minor
CUI: C0085578
Disease: Thalassemia Minor
1 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
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