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: rs1202989817
rs1202989817
SOD1 ; LOC102724449
0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.010 1.000 1 2007 2007
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2004 2004
dbSNP: rs74315452
rs74315452
SOD1
0.732 0.160 21 31667356 missense variant T/C snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2004 2004
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2013 2019
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2015 2015
dbSNP: rs121912443
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2007 2007
dbSNP: rs2070424
rs2070424
SOD1
0.851 0.200 21 31667007 non coding transcript exon variant A/G snv 0.13
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2014 2014
dbSNP: rs74315452
rs74315452
SOD1
0.732 0.160 21 31667356 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2015 2015
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2012 2016
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 0.995 416 1996 2020
dbSNP: rs80265967
rs80265967
SOD1
0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 1.000 30 1995 2020
dbSNP: rs121912431
rs121912431
SOD1
0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 1.000 17 1997 2017
dbSNP: rs121912436
rs121912436
SOD1
0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 1.000 13 2000 2019
dbSNP: rs121912443
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 0.917 12 1994 2017
dbSNP: rs74315452
rs74315452
SOD1
0.732 0.160 21 31667356 missense variant T/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.070 1.000 7 1997 2015
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.040 1.000 4 1999 2018
dbSNP: rs121912437
rs121912437
SOD1
0.851 0.080 21 31667298 missense variant G/A;C;T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.030 1.000 3 2002 2017
dbSNP: rs774994509
rs774994509
SOD1
0.851 0.080 21 31667296 missense variant A/G snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.030 1.000 3 2010 2011
dbSNP: rs121912433
rs121912433
SOD1
0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 1.000 2 2010 2011
dbSNP: rs121912435
rs121912435
SOD1
0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 1.000 2 2013 2020
dbSNP: rs1424014997
rs1424014997
SOD1 ; SCAF4
0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 1.000 2 2006 2014
dbSNP: rs768029813
rs768029813
SOD1 ; LOC102724449
0.925 0.080 21 31659828 missense variant A/G snv 8.4E-05 4.2E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 1.000 2 2003 2005
dbSNP: rs121912434
rs121912434
SOD1
0.925 0.080 21 31663842 missense variant G/A snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2011 2011
dbSNP: rs121912439
rs121912439
SOD1
0.851 0.080 21 31667320 missense variant A/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 1995 1995