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: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.100 0.917 12 1994 2017
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.070 1.000 7 1997 2015
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.040 1.000 4 1999 2018
dbSNP: rs121912437
rs121912437
SOD1
5 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.030 1.000 3 2002 2017
dbSNP: rs774994509
rs774994509
SOD1
5 0.851 0.080 21 31667296 missense variant A/G snv 4.0E-06 0.030 1.000 3 2010 2011
dbSNP: rs121912433
rs121912433
SOD1
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2011
dbSNP: rs121912435
rs121912435
SOD1
2 0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06 0.020 1.000 2 2013 2020
dbSNP: rs13048019
rs13048019
TIAM1
1 1.000 0.080 21 31545981 intron variant C/T snv 0.14 0.810 1.000 2 2010 2014
dbSNP: rs1424014997
rs1424014997
SOD1 ; SCAF4
3 0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06 0.020 1.000 2 2006 2014
dbSNP: rs75087725
rs75087725
CFAP410
1 1.000 0.080 21 44333234 missense variant C/A snv 8.0E-03 9.0E-03 0.700 1.000 2 2016 2018
dbSNP: rs768029813
rs768029813
SOD1 ; LOC102724449
2 0.925 0.080 21 31659828 missense variant A/G snv 8.4E-05 4.2E-05 0.020 1.000 2 2003 2005
dbSNP: rs121912434
rs121912434
SOD1
2 0.925 0.080 21 31663842 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs121912439
rs121912439
SOD1
4 0.851 0.080 21 31667320 missense variant A/G snv 0.010 1.000 1 1995 1995
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: rs121912448
rs121912448
SOD1 ; LOC102724449
2 0.925 0.080 21 31659789 missense variant G/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs121912455
rs121912455
SOD1
3 0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs121912459
rs121912459
SOD1
2 0.925 0.080 21 31667307 missense variant G/A snv 2.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs1258447643
rs1258447643
RUNX1
1 1.000 0.080 21 34799403 missense variant C/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1315541036
rs1315541036
SOD1
2 0.925 0.080 21 31667273 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1343616996
rs1343616996
SOD1
1 1.000 0.080 21 31667289 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs199474723
rs199474723
SOD1
1 1.000 0.080 21 31667370 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs2838568
rs2838568 		1 1.000 0.080 21 44476857 upstream gene variant G/A snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs567432143
rs567432143
SOD1
2 0.925 0.080 21 31667346 missense variant G/A;T snv 2.4E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs747355134
rs747355134
APP
1 1.000 0.080 21 26090027 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs762628133
rs762628133
SOD1 ; LOC102724449
1 1.000 0.080 21 31659803 missense variant G/T snv 8.0E-06 0.010 1.000 1 2010 2010