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.
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
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
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
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 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
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
52 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
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
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
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
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
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
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
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
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
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
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