rs121912438, SOD1

N. diseases: 58
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.
Cholera
CUI: C0008354
Disease: Cholera
1 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
Compression of spinal cord
CUI: C0037926
Disease: Compression of spinal cord
2 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
Promyelocytic leukemia
CUI: C2745900
Disease: Promyelocytic leukemia
2 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
General Paralysis
CUI: C0205858
Disease: General Paralysis
3 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2000 2000
Mitochondrial cytopathy
CUI: C2931928
Disease: Mitochondrial cytopathy
3 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
Muscle degeneration
CUI: C0234958
Disease: Muscle degeneration
3 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
Spinal Cord Ischemia
CUI: C0752130
Disease: Spinal Cord Ischemia
3 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1 2008 2008
Fatigability
CUI: C0231230
Disease: Fatigability
4 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2011 2011
Brain Ischemia
CUI: C0007786
Disease: Brain Ischemia
5 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
6 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2007 2016
Behavioral Symptoms
CUI: C0004941
Disease: Behavioral Symptoms
9 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2002 2002
SCLEROSING CHOLANGITIS, NEONATAL
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
9 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2019 2019
Herpes Simplex Infections
CUI: C0019348
Disease: Herpes Simplex Infections
11 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
15 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.040 1.000 4 2006 2013
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
18 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2015 2015
Mitochondrial Myopathies
CUI: C0162670
Disease: Mitochondrial Myopathies
19 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
20 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
Motor neuron atrophy
CUI: C4024896
Disease: Motor neuron atrophy
21 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 0.947 19 2001 2015
Acute Promyelocytic Leukemia
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
21 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2012 2012
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.030 1.000 3 2007 2019
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2013 2013
B-Cell Lymphomas
CUI: C0079731
Disease: B-Cell Lymphomas
42 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
Cytochrome-c Oxidase Deficiency
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
44 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008