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: 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: rs121912457
rs121912457
SOD1
1.000 0.080 21 31663854 missense variant T/C;G snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 23 1993 2012
dbSNP: rs80265967
rs80265967
SOD1
0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 20 1993 2009
dbSNP: rs11556620
rs11556620
SOD1
1.000 0.080 21 31667278 missense variant A/G;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 3 2005 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 5 1995 2019
dbSNP: rs121912445
rs121912445
SOD1
0.882 0.080 21 31667331 missense variant A/T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.720 1.000 22 1993 2017
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 21 1993 2009
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 1 2001 2001
dbSNP: rs1476760624
rs1476760624
SOD1 ; SCAF4
1.000 0.080 21 31668559 missense variant T/G snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.710 1.000 1 1997 1997
dbSNP: rs1169198442
rs1169198442
SOD1 ; LOC102724449
1.000 0.080 21 31659837 missense variant A/G;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 1.000 20 1993 2009
dbSNP: rs1280042397
rs1280042397
SOD1
1.000 0.080 21 31667287 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 1.000 20 1993 2009
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: rs1378590183
rs1378590183
SOD1
1.000 0.080 21 31667335 missense variant C/T snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 1.000 20 1993 2009
dbSNP: rs1804449
rs1804449
SOD1 ; SCAF4
1.000 0.080 21 31668533 missense variant C/A;T snv 1.2E-04
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 1.000 20 1993 2009
dbSNP: rs567511139
rs567511139
SOD1 ; SCAF4
0.925 0.080 21 31668558 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 1.000 20 1993 2009
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: rs1131690781
rs1131690781
SOD1 ; SCAF4
1.000 0.040 21 31668550 missense variant C/A;G snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.700 1.000 1 2017 2017
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: rs121912439
rs121912439
SOD1
0.851 0.080 21 31667320 missense variant A/G snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.700 1.000 1 2017 2017
dbSNP: rs121912441
rs121912441
SOD1
0.925 0.080 21 31667359 missense variant T/C snv 4.8E-05 7.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.700 1.000 1 2017 2017
dbSNP: rs121912445
rs121912445
SOD1
0.882 0.080 21 31667331 missense variant A/T snv
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		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: rs121912458
rs121912458
SOD1
1.000 0.080 21 31667260 missense variant A/G snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 0
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: 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