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.
Fatigability
CUI: C0231230
Disease: Fatigability
1 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2011 2011
Mitochondrial cytopathy
CUI: C2931928
Disease: Mitochondrial cytopathy
2 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
Compression of spinal cord
CUI: C0037926
Disease: Compression of spinal cord
2 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2011 2011
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
3 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.040 1.000 4 2007 2015
Helminthiasis
CUI: C0018889
Disease: Helminthiasis
3 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2013 2013
Muscle degeneration
CUI: C0234958
Disease: Muscle degeneration
3 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
Spinal Cord Ischemia
CUI: C0752130
Disease: Spinal Cord Ischemia
3 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1 2008 2008
Brain Ischemia
CUI: C0007786
Disease: Brain Ischemia
4 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1 2004 2004
Pituitary Diseases
CUI: C0032002
Disease: Pituitary Diseases
5 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2012 2012
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
6 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.030 1.000 3 2006 2014
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
6 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2016 2016
Herpes Simplex Infections
CUI: C0019348
Disease: Herpes Simplex Infections
6 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
Acute Promyelocytic Leukemia
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
7 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
Promyelocytic leukemia
CUI: C2745900
Disease: Promyelocytic leukemia
7 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
9 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
10 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2015 2015
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
11 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.020 1.000 2 2007 2017
Motor neuron atrophy
CUI: C4024896
Disease: Motor neuron atrophy
12 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.100 0.824 17 2002 2016
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
13 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
Mitochondrial Myopathies
CUI: C0162670
Disease: Mitochondrial Myopathies
14 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
20 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2017 2017
Paresis
CUI: C0030552
Disease: Paresis
22 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.030 1.000 3 2001 2004
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
29 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
30 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.020 1.000 2 2004 2012
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
32 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.100 1.000 12 1994 2012