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.
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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2000 2004
Adult Non-Hodgkin Lymphoma
CUI: C0220605
Disease: Adult 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 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
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
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
197 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
Lymphoma, Non-Hodgkin, Familial
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
79 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
Neurobehavioral Manifestations
CUI: C0525041
Disease: Neurobehavioral Manifestations
3 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
Sporadic porphyria cutanea tarda
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
3 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 0.667 3 2000 2005
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
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
519 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2004 2005
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2001 2005
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
Anemia
CUI: C0002871
Disease: Anemia
94 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2005 2005