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: rs387906789
rs387906789
VCP
14 0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121909334
rs121909334
VCP
10 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.020 1.000 2 2010 2013
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.010 < 0.001 1 2013 2013
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: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 0.500 2 2010 2013
dbSNP: rs11868035
rs11868035
SREBF1 ; RAI1
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2018 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: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.020 1.000 2 2014 2015
dbSNP: rs104893941
rs104893941
SQSTM1 ; MRNIP
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs121909335
rs121909335
VCP
9 0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
9 0.776 0.240 X 78029314 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs745805222
rs745805222
IGF1
7 0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05 0.100 1.000 11 2007 2018
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: rs80356733
rs80356733
TARDBP
7 0.790 0.200 1 11022451 missense variant G/T snv 0.070 1.000 7 2008 2019
dbSNP: rs1424266770
rs1424266770
CASP3
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.020 1.000 2 2011 2014
dbSNP: rs2279238
rs2279238
NR1H3
11 0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26 0.010 1.000 1 2018 2018
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: 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: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.040 0.500 4 2008 2017
dbSNP: rs142444896
rs142444896
CHCHD2
6 0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03 0.020 0.500 2 2016 2018
dbSNP: rs387906711
rs387906711
UBQLN2
6 0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06 0.020 1.000 2 2015 2019
dbSNP: rs4884357
rs4884357
TARDBP
6 0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs4987023
rs4987023
SOD2
6 0.807 0.120 6 159692661 missense variant C/T snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs730880031
rs730880031
CHCHD10 ; LOC107985577
7 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs9268856
rs9268856
HLA-DRB9
6 0.807 0.240 6 32461942 intron variant C/A;T snv 0.010 1.000 1 2017 2017