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.
MOYAMOYA DISEASE 2
CUI: C1846689
Disease: MOYAMOYA DISEASE 2
6 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.700 1.000 1 2014 2014
Moyamoya Disease
CUI: C0026654
Disease: Moyamoya Disease
50 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.100 0.925 40 2011 2020
Moyamoya disease 1
CUI: C2931384
Disease: Moyamoya disease 1
50 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.100 0.914 35 2011 2020
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.020 1.000 2 2015 2019
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.020 1.000 2 2018 2020
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017
CADASIL Syndrome
CUI: C0751587
Disease: CADASIL Syndrome
23 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2018 2018
Cerebral hypoperfusion
CUI: C1695782
Disease: Cerebral hypoperfusion
1 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2018 2018
Cerebral Infarction
CUI: C0007785
Disease: Cerebral Infarction
123 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2020 2020
Cerebrovascular Disorders
CUI: C0007820
Disease: Cerebrovascular Disorders
56 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2015 2015
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2015 2015
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2019 2019
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017
Idiopathic pulmonary arterial hypertension
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2020 2020
Intracranial Arterial Diseases
CUI: C0752138
Disease: Intracranial Arterial Diseases
1 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2019 2019
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
170 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2019 2019
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2020 2020
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017