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.
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 0.995 416 1996 2020
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.900 1.000 39 1993 2016
Amyotrophic Lateral Sclerosis, Familial
68 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 30 1996 2016
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
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 15 1994 2017
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2003 2019
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
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2010 2016
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
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2013 2019
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2012 2016
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
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2009 2018
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
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2018 2019
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
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
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
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
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
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