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: rs121912431
rs121912431
SOD1
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.100 1.000 17 1997 2017
dbSNP: rs121912436
rs121912436
SOD1
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.100 1.000 13 2000 2019
dbSNP: rs12608932
rs12608932
UNC13A
5 0.827 0.080 19 17641880 intron variant A/C snv 0.36 0.880 0.923 13 2009 2019
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.100 1.000 13 2002 2018
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.100 0.917 12 1994 2017
dbSNP: rs1445888481
rs1445888481
IL1B
2 0.925 0.080 2 112835572 synonymous variant C/T snv 7.0E-06 0.100 1.000 10 2002 2018
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.870 1.000 8 2009 2018
dbSNP: rs267606929
rs267606929
OPTN
5 0.827 0.120 10 13132098 missense variant A/G snv 0.070 1.000 7 2011 2018
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.070 1.000 7 1997 2015
dbSNP: rs80356733
rs80356733
TARDBP
7 0.790 0.200 1 11022451 missense variant G/T snv 0.070 1.000 7 2008 2019
dbSNP: rs2275294
rs2275294
ZNF512B
3 0.925 0.080 20 63962894 intron variant G/A snv 0.25 0.060 0.833 6 2011 2018
dbSNP: rs2814707
rs2814707
C9orf72 ; LOC107987057 ; LOC112268043
4 0.882 0.120 9 27536399 non coding transcript exon variant C/G;T snv 0.830 1.000 6 2009 2014
dbSNP: rs387907264
rs387907264
PFN1
5 0.851 0.080 17 4946742 missense variant A/C snv 0.050 1.000 5 2015 2019
dbSNP: rs10139154
rs10139154
SCFD1
2 0.925 0.120 14 30678292 intron variant C/T snv 0.46 0.720 0.750 4 2016 2019
dbSNP: rs1426039367
rs1426039367
CSF2
2 0.925 0.080 5 132073916 synonymous variant G/A snv 7.0E-06 0.040 1.000 4 2001 2016
dbSNP: rs1541160
rs1541160
KIFAP3
3 0.882 0.080 1 170026661 intron variant C/A;T snv 0.830 1.000 4 2009 2014
dbSNP: rs80356727
rs80356727
TARDBP
3 0.925 0.080 1 11022400 missense variant C/A snv 0.040 1.000 4 2013 2019
dbSNP: rs10260404
rs10260404
DPP6
2 0.925 0.080 7 154513713 intron variant T/C snv 0.35 0.820 0.667 3 2008 2011
dbSNP: rs1159805691
rs1159805691
IGFALS ; SPSB3
4 0.851 0.080 16 1792266 frameshift variant T/- del 7.0E-06 0.030 1.000 3 1995 2009
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: rs1239669755
rs1239669755
IQCG ; LMLN
4 0.851 0.080 3 197960384 missense variant C/T snv 0.030 1.000 3 2008 2010
dbSNP: rs1256045225
rs1256045225
PYCARD ; PYCARD-AS1
2 0.925 0.080 16 31202598 synonymous variant C/T snv 7.0E-06 0.030 1.000 3 2015 2018
dbSNP: rs1261281771
rs1261281771
SOD2
2 0.925 0.080 6 159688191 missense variant C/G snv 7.0E-06 0.030 1.000 3 2003 2017
dbSNP: rs1468034466
rs1468034466
TFRC
4 0.851 0.120 3 196074028 synonymous variant T/C snv 0.030 1.000 3 2013 2015
dbSNP: rs3205493
rs3205493
EIF3K
1 1.000 0.080 19 38635035 missense variant C/G snv 0.030 1.000 3 2007 2016