Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2019 2019
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.010 1.000 1 2004 2004
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2012 2012
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		0.010 < 0.001 1 2016 2016
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		0.010 1.000 1 2012 2012
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 1.000 1 2016 2016
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2017 2017
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2017 2017
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 1.000 1 2013 2013
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2019 2019
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C4551761
Disease: Excessive daytime sleepiness
Excessive daytime sleepiness 		0.010 1.000 1 2019 2019
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2012 2012
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 1.000 1 2017 2017
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 1.000 1 2013 2013
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0278837
Disease: Stage IV Prostate Carcinoma
Stage IV Prostate Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 1.000 1 2016 2016
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.010 1.000 1 2014 2014
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.010 1.000 1 2010 2010