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.
Familial porphyria cutanea tarda
CUI: C0268323
Disease: Familial porphyria cutanea tarda
6 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
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
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
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
83 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 1999 1999
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
42 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 1999 1999
Secondary acquired sideroblastic anemia
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 1999 1999
Sideroblastic anemia
CUI: C0002896
Disease: Sideroblastic anemia
11 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 1999 1999
Variegate Porphyria
CUI: C0162532
Disease: Variegate Porphyria
24 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.710 1.000 1 1999 1999
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
20 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 1999 2001
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
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
238 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2001 2001
Hemosiderosis
CUI: C0019114
Disease: Hemosiderosis
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2001 2001
Hepatic hemosiderosis
CUI: C0268066
Disease: Hepatic hemosiderosis
1 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2001 2001
Hepatitis E
CUI: C0085293
Disease: Hepatitis E
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2001 2001
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
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
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