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.
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
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
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 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
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
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 1999 1999
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
118 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
Chronic active hepatitis
CUI: C0520463
Disease: Chronic active hepatitis
34 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
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
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
83 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
42 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
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
Sideroblastic anemia
CUI: C0002896
Disease: Sideroblastic anemia
11 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 1999 1999
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
23 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
72 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
79 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Cirrhosis, Cryptogenic
CUI: C0267809
Disease: Cirrhosis, Cryptogenic
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Congenital dyserythropoietic anemia
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
13 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Familial porphyria cutanea tarda
CUI: C0268323
Disease: Familial porphyria cutanea tarda
6 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000