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.
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
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
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
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
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
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
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
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
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 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
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 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
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 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
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
CUI: C4551993
Disease: 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
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
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
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
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2017 2017
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
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
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 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