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: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 30 1996 2016
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.100 1.000 12 1994 2005
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.100 1.000 10 1999 2009
dbSNP: rs121912436
rs121912436
SOD1
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.070 1.000 7 2000 2018
dbSNP: rs121912431
rs121912431
SOD1
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.060 1.000 6 1997 2008
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.060 1.000 6 1994 2018
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.040 1.000 4 1999 2015
dbSNP: rs1410835752
rs1410835752
IGFALS ; SPSB3
2 0.925 0.080 16 1792440 missense variant G/A snv 0.030 1.000 3 1994 2000
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.030 1.000 3 1998 2001
dbSNP: rs121912432
rs121912432
SOD1
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.020 1.000 2 2000 2003
dbSNP: rs121912437
rs121912437
SOD1
5 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.020 1.000 2 1998 2009
dbSNP: rs121912439
rs121912439
SOD1
4 0.851 0.080 21 31667320 missense variant A/G snv 0.020 1.000 2 1997 1998
dbSNP: rs121912445
rs121912445
SOD1
4 0.882 0.080 21 31667331 missense variant A/T snv 0.020 1.000 2 1996 2017
dbSNP: rs74315431
rs74315431
VAPB
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.020 1.000 2 2010 2013
dbSNP: rs886041390
rs886041390
FUS
5 0.827 0.080 16 31191431 missense variant C/T snv 4.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs11538763
rs11538763
PRNP
1 1.000 0.080 20 4699329 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1162626131
rs1162626131
MST1 ; RNF123
2 0.925 0.080 3 49687855 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1167052126
rs1167052126
RNF40 ; ZNF629
2 0.925 0.080 16 30783980 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs121909334
rs121909334
VCP
10 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs121909668
rs121909668
FUS
8 0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs121912433
rs121912433
SOD1
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121912440
rs121912440
SOD1
3 0.882 0.080 21 31667337 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
2 0.925 0.080 21 31659782 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1996 1996