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: 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: 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: 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: 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: 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: 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: 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: 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: rs742710
rs742710
CHGB
2 0.925 0.080 20 5923382 missense variant C/T snv 0.11 0.12 0.050 0.600 5 2009 2018
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
dbSNP: rs1395271150
rs1395271150
NLRP3
1 1.000 0.080 1 247423230 missense variant G/C;T snv 4.0E-06 0.040 1.000 4 2015 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: rs746076530
rs746076530
CCL2
1 1.000 0.080 17 34256238 synonymous variant A/G snv 1.6E-05 7.0E-06 0.040 1.000 4 2011 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: rs1302121603
rs1302121603
COP1
1 1.000 0.080 1 176149024 missense variant T/C snv 3.3E-05 7.0E-06 0.030 1.000 3 2003 2008