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.
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
349 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 1999 1999
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
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
Paresis
CUI: C0030552
Disease: Paresis
49 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2000 2004
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 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
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
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 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
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 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
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 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
leukemia
CUI: C0023418
Disease: leukemia
144 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
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
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
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
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
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
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 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 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
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
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
Amyotrophic Lateral Sclerosis, Sporadic
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
90 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
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
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 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
Fatigue
CUI: C0015672
Disease: Fatigue
67 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
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 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
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2004 2011