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 0.995 416 1996 2020
dbSNP: rs74315431
rs74315431
VAPB
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.100 0.944 18 2006 2019
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: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.100 1.000 14 2011 2019
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: 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: rs938050921
rs938050921
DCDC2 ; KAAG1
5 0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06 0.100 1.000 13 2006 2020
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.100 0.917 12 1994 2017
dbSNP: rs762060740
rs762060740
GFAP
6 0.827 0.080 17 44915083 missense variant G/C snv 4.0E-06 0.100 1.000 11 2005 2014
dbSNP: rs886041390
rs886041390
FUS
5 0.827 0.080 16 31191431 missense variant C/T snv 4.0E-06 0.100 1.000 10 2011 2019
dbSNP: rs121909668
rs121909668
FUS
8 0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05 0.090 1.000 9 2010 2017
dbSNP: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.090 1.000 9 2009 2016
dbSNP: rs121909671
rs121909671
FUS
6 0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06 0.080 1.000 8 2010 2017
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: rs387906627
rs387906627
FUS
2 0.925 0.080 16 31191052 stop gained C/T snv 8.1E-06 0.080 1.000 8 2010 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: 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: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.060 0.833 6 2013 2015
dbSNP: rs80356730
rs80356730
TARDBP
7 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.060 1.000 6 2013 2019
dbSNP: rs1209222698
rs1209222698
CUX1
1 1.000 0.080 7 101916177 synonymous variant A/G snv 8.0E-06 0.050 1.000 5 2004 2015
dbSNP: rs1372769622
rs1372769622
KHSRP
1 1.000 0.080 19 6422408 missense variant G/C snv 4.0E-06 0.050 1.000 5 2004 2015
dbSNP: rs387907264
rs387907264
PFN1
5 0.851 0.080 17 4946742 missense variant A/C snv 0.050 1.000 5 2015 2019
dbSNP: rs11701
rs11701
ANG ; RNASE4
2 0.925 0.080 14 20693894 synonymous variant T/A;C;G snv 4.0E-06; 0.14 0.040 0.500 4 2007 2016