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.
Venoocclusive disease
CUI: C0948441
Disease: Venoocclusive disease
4 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
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
Varicosity
CUI: C0042345
Disease: Varicosity
51 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2016 2016
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
Transferrin saturation measurement
CUI: C1277709
Disease: Transferrin saturation measurement
36 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
26 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2010 2010
Thalassemia trait
CUI: C0702157
Disease: Thalassemia trait
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2005 2017
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
Thalassemia
CUI: C0039730
Disease: Thalassemia
18 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2007 2007
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
Systolic blood pressure measurement
CUI: C1306620
Disease: Systolic blood pressure measurement
95 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
Subacute hepatic necrosis
CUI: C0267795
Disease: Subacute hepatic necrosis
1 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2013 2013
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 0.833 6 2006 2012
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
Solid Neoplasm
CUI: C0280100
Disease: Solid Neoplasm
24 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
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
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
Serum iron measurement
CUI: C1318312
Disease: Serum iron measurement
25 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 2 2011 2017
Serum ferritin measurement
CUI: C0696113
Disease: Serum ferritin measurement
21 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
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
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2012 2012
Schizoaffective Disorder
CUI: C0036337
Disease: Schizoaffective Disorder
61 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2012 2012
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
Rheumatism
CUI: C0035435
Disease: Rheumatism
19 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005