Source: ALL
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: rs763098034
rs763098034
HSPB1
2 0.925 0.080 7 76302821 missense variant C/G;T snv 3.9E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs121912431
rs121912431
SOD1
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.890 0.969 32 1993 2012
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.890 1.000 40 1993 2014
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.900 1.000 39 1993 2016
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
2 0.925 0.120 21 31668548 missense variant G/C;T snv 1.6E-05 0.820 1.000 38 1993 2017
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.830 1.000 36 1993 2012
dbSNP: rs121912434
rs121912434
SOD1
2 0.925 0.080 21 31663842 missense variant G/A snv 0.800 1.000 32 1993 2017
dbSNP: rs121912441
rs121912441
SOD1
2 0.925 0.080 21 31667359 missense variant T/C snv 4.8E-05 7.0E-06 0.800 1.000 32 1976 2017
dbSNP: rs121912436
rs121912436
SOD1
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.870 1.000 30 1993 2013
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
2 0.925 0.080 21 31659782 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.820 1.000 29 1993 2015
dbSNP: rs121912440
rs121912440
SOD1
3 0.882 0.080 21 31667337 missense variant C/G;T snv 0.800 1.000 28 1993 2012
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
1 1.000 0.080 21 31668547 missense variant T/C snv 0.800 1.000 28 1993 2017
dbSNP: rs121912435
rs121912435
SOD1
2 0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06 0.810 1.000 27 1993 2012
dbSNP: rs121912437
rs121912437
SOD1
5 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.820 1.000 25 1993 2017
dbSNP: rs121912432
rs121912432
SOD1
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs121912439
rs121912439
SOD1
4 0.851 0.080 21 31667320 missense variant A/G snv 0.810 1.000 24 1993 2012
dbSNP: rs121912448
rs121912448
SOD1 ; LOC102724449
2 0.925 0.080 21 31659789 missense variant G/A;T snv 0.810 1.000 24 1993 2012
dbSNP: rs121912452
rs121912452
SOD1
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs121912455
rs121912455
SOD1
3 0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06 0.810 1.000 24 1993 2012