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.
Secondary hemochromatosis
CUI: C0238158
Disease: Secondary hemochromatosis
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2000 2003
Beta thalassemia minor
CUI: C0869532
Disease: Beta thalassemia minor
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
Dysmetabolic syndrome
CUI: C1262289
Disease: Dysmetabolic syndrome
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2008 2008
Healing ulcer
CUI: C0333293
Disease: Healing ulcer
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
Venous Insufficiency
CUI: C0042485
Disease: Venous Insufficiency
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
HEMOCHROMATOSIS, JUVENILE, DIGENIC
CUI: C3150862
Disease: HEMOCHROMATOSIS, JUVENILE, DIGENIC
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
IgG Deficiency disorder
CUI: C0162539
Disease: IgG Deficiency disorder
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2005
Siderosis
CUI: C0037061
Disease: Siderosis
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 1998 2010
Thalassemia trait
CUI: C0702157
Disease: Thalassemia trait
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2005 2017
Varicose Ulcer
CUI: C0042344
Disease: Varicose Ulcer
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2006 2016
beta Thalassemia, heterozygous
CUI: C0878520
Disease: beta Thalassemia, heterozygous
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2001 2001
Distal ileal obstruction syndrome
CUI: C0854076
Disease: Distal ileal obstruction syndrome
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2019 2019
Hepatic Veno-Occlusive Disease
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
Hereditary stomatocytosis
CUI: C1262483
Disease: Hereditary stomatocytosis
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
Refractory anaemia with excess blasts
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2003 2003
Schnitzler Syndrome
CUI: C0524988
Disease: Schnitzler Syndrome
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2009 2009
Secondary acquired sideroblastic anemia
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
HFE-Associated Hereditary Hemochromatosis
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.040 1.000 4 2002 2014
Iron Metabolism Disorders
CUI: C0012715
Disease: Iron Metabolism Disorders
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 2000 2007
Sporadic porphyria cutanea tarda
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 0.667 3 2000 2005
Refractory anemia with ringed sideroblasts
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2003 2007