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: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 < 0.001 1 2015 2015
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: C0014175
Disease: Endometriosis
Endometriosis 		0.010 < 0.001 1 2013 2013
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0730285
Disease: Diabetic macular edema
Diabetic macular edema 		0.010 < 0.001 1 2006 2006
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.010 < 0.001 1 2012 2012
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 < 0.001 1 2009 2009
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 < 0.001 1 2009 2009
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 < 0.001 1 2009 2009
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C2945759
Disease: aggressive cancer
aggressive cancer 		0.010 < 0.001 1 2008 2008
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011847
Disease: Diabetes
Diabetes 		0.040 0.500 4 2006 2018
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.020 0.500 2 2018 2019
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		0.020 0.500 2 2008 2010
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		0.020 0.500 2 2008 2010
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.050 0.600 5 2006 2018
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.667 12 2006 2018
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.667 12 2006 2018
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.030 0.667 3 2006 2009
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.100 0.857 14 2007 2016
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.100 0.857 14 2007 2016
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 0.857 7 2006 2016
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.080 0.875 8 2004 2017
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.080 0.875 8 2004 2017
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.090 0.889 9 2004 2017
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 1.000 4 2009 2015
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 1.000 4 2010 2016