Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912454
rs121912454
SOD1 ; SCAF4
1 1.000 0.080 21 31668493 stop gained T/A;C snv 0.700 0
dbSNP: rs121912458
rs121912458
SOD1
1 1.000 0.080 21 31667260 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1235629842
rs1235629842
SOD1
1 1.000 0.080 21 31667373 missense variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs1301635320
rs1301635320
SOD1
1 1.000 0.080 21 31667364 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs76731700
rs76731700
SOD1
1 1.000 0.080 21 31667319 stop gained G/A;T snv 0.700 0
dbSNP: rs986277034
rs986277034
SOD1
1 1.000 0.080 21 31663881 missense variant C/G snv 0.700 0
dbSNP: rs1476760624
rs1476760624
SOD1 ; SCAF4
1 1.000 0.080 21 31668559 missense variant T/G snv 4.0E-06 0.710 1.000 0 1997 1997
dbSNP: rs1315541036
rs1315541036
SOD1
1 0.925 0.080 21 31667273 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.710 1.000 0 2001 2001
dbSNP: rs121909343
rs121909343
DCTN1
2 1.000 0.080 2 74368870 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 2 2004 2005
dbSNP: rs121909345
rs121909345
DCTN1
2 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.700 1.000 2 2004 2005
dbSNP: rs1169198442
rs1169198442
SOD1 ; LOC102724449
1 1.000 0.080 21 31659837 missense variant A/G;T snv 0.700 1.000 20 1993 2009
dbSNP: rs1280042397
rs1280042397
SOD1
1 1.000 0.080 21 31667287 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs1339283341
rs1339283341
SOD1
1 1.000 0.080 21 31667281 missense variant T/C snv 0.700 1.000 20 1993 2009
dbSNP: rs1378590183
rs1378590183
SOD1
1 1.000 0.080 21 31667335 missense variant C/T snv 4.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs1424014997
rs1424014997
SOD1 ; SCAF4
1 0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06 0.710 1.000 20 1993 2009
dbSNP: rs1804449
rs1804449
SOD1 ; SCAF4
1 1.000 0.080 21 31668533 missense variant C/A;T snv 1.2E-04 0.700 1.000 20 1993 2009
dbSNP: rs567511139
rs567511139
SOD1 ; SCAF4
1 0.925 0.080 21 31668558 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs80265967
rs80265967
SOD1
2 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.800 1.000 20 1993 2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
1 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.830 1.000 33 1993 2012
dbSNP: rs121912440
rs121912440
SOD1
1 0.882 0.080 21 31667337 missense variant C/G;T snv 0.800 1.000 28 1993 2012
dbSNP: rs121912435
rs121912435
SOD1
1 0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06 0.810 1.000 27 1993 2012
dbSNP: rs121912431
rs121912431
SOD1
2 0.742 0.160 21 31663829 missense variant G/A;C snv 0.890 0.969 23 1993 2012
dbSNP: rs121912432
rs121912432
SOD1
1 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.810 1.000 23 1993 2012
dbSNP: rs121912433
rs121912433
SOD1
1 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.800 1.000 23 1993 2012
dbSNP: rs121912439
rs121912439
SOD1
2 0.851 0.080 21 31667320 missense variant A/G snv 0.810 1.000 23 1993 2012