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)
CUI: C2673520
Disease: 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
CUI: C3280096
Disease: 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
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 0.991 114 1996 2019
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
62 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 0.960 99 1996 2019
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.886 79 1997 2019
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
45 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.961 77 1997 2019
Porphyria Cutanea Tarda
CUI: C0162566
Disease: Porphyria Cutanea Tarda
39 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.909 11 1998 2014
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
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
Siderosis
CUI: C0037061
Disease: Siderosis
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 1998 2010
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
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.818 11 1999 2011
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
80 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.080 0.875 8 1999 2010
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
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
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
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
CUI: C0272024
Disease: 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
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.929 14 2000 2010