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: 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: rs80265967
rs80265967
SOD1
0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121912443
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.890 1.000 31 1993 2014
dbSNP: rs121912435
rs121912435
SOD1
0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.810 1.000 27 1993 2012
dbSNP: rs121912439
rs121912439
SOD1
0.851 0.080 21 31667320 missense variant A/G snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.810 1.000 23 1993 2012
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: 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: 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: 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: 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 20 1993 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: 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: 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: rs121912432
rs121912432
SOD1
0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.810 1.000 23 1993 2012
dbSNP: rs986277034
rs986277034
SOD1
1.000 0.080 21 31663881 missense variant C/G snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 0
dbSNP: rs121912440
rs121912440
SOD1
0.882 0.080 21 31667337 missense variant C/G;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 28 1993 2012
dbSNP: rs1301635320
rs1301635320
SOD1
1.000 0.080 21 31667364 missense variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 0
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 1.000 33 1993 2012
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: 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: rs121912434
rs121912434
SOD1
0.925 0.080 21 31663842 missense variant G/A snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 32 1993 2017
dbSNP: rs121912433
rs121912433
SOD1
0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 23 1993 2012
dbSNP: rs121912447
rs121912447
SOD1 ; SCAF4
1.000 0.080 21 31668549 missense variant G/A snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 23 1993 2012
dbSNP: rs121912450
rs121912450
SOD1 ; LOC102724449
1.000 0.080 21 31659833 missense variant G/A snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.800 1.000 23 1993 2012
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