Source: CURATED

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: rs1555836950
rs1555836950
SOD1 ; SCAF4
1.000 0.080 21 31668556 missense variant G/A snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 1.000 3 2010 2014
dbSNP: rs121912459
rs121912459
SOD1
0.925 0.080 21 31667307 missense variant G/A snv 2.4E-05
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121912431
rs121912431
SOD1
0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.890 0.969 23 1993 2012
dbSNP: rs121912436
rs121912436
SOD1
0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 1.000 23 1993 2013
dbSNP: rs121912451
rs121912451
SOD1 ; SCAF4
0.925 0.080 21 31668517 missense variant G/A;C snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 23 1993 2012
dbSNP: rs121912431
rs121912431
SOD1
0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.740 1.000 1 1995 2019
dbSNP: rs1315541036
rs1315541036
SOD1
0.925 0.080 21 31667273 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.710 1.000 0 2001 2001
dbSNP: rs121912437
rs121912437
SOD1
0.851 0.080 21 31667298 missense variant G/A;C;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 1.000 23 1993 2017
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 1.000 23 1993 2016
dbSNP: rs121912437
rs121912437
SOD1
0.851 0.080 21 31667298 missense variant G/A;C;T snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.700 1.000 1 2017 2017
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
0.925 0.080 21 31659782 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 1.000 28 1993 2015
dbSNP: rs121912448
rs121912448
SOD1 ; LOC102724449
0.925 0.080 21 31659789 missense variant G/A;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.810 1.000 23 1993 2012
dbSNP: rs121912453
rs121912453
SOD1 ; LOC102724449
1.000 0.080 21 31659818 missense variant G/A;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 23 1993 2012
dbSNP: rs121912455
rs121912455
SOD1
0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.810 1.000 23 1993 2012
dbSNP: rs76731700
rs76731700
SOD1
1.000 0.080 21 31667319 stop gained G/A;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 0
dbSNP: rs121912456
rs121912456
SOD1 ; LOC102724449
0.851 0.120 21 31659806 missense variant G/C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 23 1993 2012
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
0.925 0.120 21 31668548 missense variant G/C;T snv 1.6E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 1.000 36 1993 2017
dbSNP: rs1235629842
rs1235629842
SOD1
1.000 0.080 21 31667373 missense variant G/C;T snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 0
dbSNP: rs121912454
rs121912454
SOD1 ; SCAF4
1.000 0.080 21 31668493 stop gained T/A;C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 0
dbSNP: rs121912441
rs121912441
SOD1
0.925 0.080 21 31667359 missense variant T/C snv 4.8E-05 7.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 32 1976 2017
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
1.000 0.080 21 31668547 missense variant T/C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 28 1993 2017
dbSNP: rs121912449
rs121912449
SOD1 ; SCAF4
1.000 0.080 21 31668568 missense variant T/C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 23 1993 2012
dbSNP: rs74315452
rs74315452
SOD1
0.732 0.160 21 31667356 missense variant T/C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.810 1.000 23 1993 2012
dbSNP: rs1339283341
rs1339283341
SOD1
1.000 0.080 21 31667281 missense variant T/C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 1.000 20 1993 2009
dbSNP: rs1424014997
rs1424014997
SOD1 ; SCAF4
0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.710 1.000 20 1993 2009