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.
Heberden node
CUI: C0018862
Disease: Heberden node
1 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2007 2007
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
Polyarthralgia
CUI: C0162296
Disease: Polyarthralgia
1 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2007 2007
Pseudomonas aeruginosa infection
CUI: C0854135
Disease: Pseudomonas aeruginosa infection
1 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2010 2010
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
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
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
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
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
Distal ileal obstruction syndrome
CUI: C0854076
Disease: Distal ileal obstruction syndrome
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2019 2019
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
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
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
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
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
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
Adult Solid Neoplasm
CUI: C0280099
Disease: Adult Solid Neoplasm
3 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
Childhood Solid Neoplasm
CUI: C0279068
Disease: Childhood Solid Neoplasm
3 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
HFE-Associated Hereditary Hemochromatosis
3 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2014 2014
Iron Metabolism Disorders
CUI: C0012715
Disease: Iron Metabolism Disorders
3 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2017 2017
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
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
Hyperferritinaemia
CUI: C3854388
Disease: Hyperferritinaemia
4 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2006 2016
Anemia, Pernicious
CUI: C0002892
Disease: Anemia, Pernicious
4 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2008 2008