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 0.900 1.000 39 1993 2016
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2002 2009
dbSNP: rs80265967
rs80265967
SOD1
16 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: rs121909342
rs121909342
DCTN1
5 0.827 0.200 2 74378104 missense variant C/G;T snv 0.700 1.000 7 2003 2016
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.890 1.000 40 1993 2014
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: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.810 1.000 24 1993 2012
dbSNP: rs757200716
rs757200716
ESR1
5 0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06 0.010 1.000 1 1994 1994
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: 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: rs121912433
rs121912433
SOD1
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.800 1.000 23 1993 2012
dbSNP: rs121912456
rs121912456
SOD1 ; LOC102724449
6 0.851 0.120 21 31659806 missense variant G/C snv 0.800 1.000 23 1993 2012
dbSNP: rs121909668
rs121909668
FUS
8 0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05 0.030 1.000 3 2010 2014
dbSNP: rs121909345
rs121909345
DCTN1
4 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: rs4987023
rs4987023
SOD2
6 0.807 0.120 6 159692661 missense variant C/T snv 7.0E-06 0.010 1.000 1 2001 2001
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