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 0.740 1.000 5 1995 2019
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.030 1.000 3 2007 2015
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.020 1.000 2 2009 2012
dbSNP: rs1131690775
rs1131690775
NEK1
1 1.000 0.040 4 169590736 missense variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1131690781
rs1131690781
SOD1 ; SCAF4
1 1.000 0.040 21 31668550 missense variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1131690782
rs1131690782
TARDBP
1 1.000 0.040 1 11022452 missense variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1159805691
rs1159805691
IGFALS ; SPSB3
4 0.851 0.080 16 1792266 frameshift variant T/- del 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs1169067903
rs1169067903
NUP214
2 0.925 0.040 9 131197276 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121909342
rs121909342
DCTN1
5 0.827 0.200 2 74378104 missense variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs121912436
rs121912436
SOD1
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs121912437
rs121912437
SOD1
5 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs121912439
rs121912439
SOD1
4 0.851 0.080 21 31667320 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1239669755
rs1239669755
IQCG ; LMLN
4 0.851 0.080 3 197960384 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1445888481
rs1445888481
IL1B
2 0.925 0.080 2 112835572 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 1998 1998
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
9 0.776 0.240 X 78029314 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs574548474
rs574548474
NUP214
2 0.925 0.040 9 131128389 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs587777574
rs587777574
CHCHD10 ; LOC107985577
4 0.882 0.040 22 23767459 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs63750092
rs63750092
MAPT
3 0.882 0.120 17 46014277 missense variant A/T snv 0.010 1.000 1 2005 2005
dbSNP: rs772918193
rs772918193
RHOT1
3 0.882 0.080 17 32208230 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs879253928
rs879253928
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
3 0.882 0.080 11 62705433 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs895824243
rs895824243
OPTN
1 1.000 0.040 10 13110387 missense variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs74315431
rs74315431
VAPB
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.030 1.000 3 2010 2015
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008