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: 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: rs1169067903
rs1169067903
NUP214
2 0.925 0.040 9 131197276 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs142812715
rs142812715
OPTN
1 1.000 0.040 10 13124053 missense variant A/T snv 1.5E-04 7.0E-05 0.700 1.000 1 2017 2017
dbSNP: rs34324114
rs34324114
NEK1
1 1.000 0.040 4 169477323 missense variant A/C snv 4.6E-03 4.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs377607698
rs377607698
NEK1
1 1.000 0.040 4 169424635 missense variant G/A;C snv 2.4E-05; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs55824172
rs55824172
TBK1
1 1.000 0.040 12 64466994 missense variant C/G;T snv 8.0E-06; 2.4E-05; 4.0E-06 0.700 1.000 1 2017 2017
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: rs772747361
rs772747361
NEK1
1 1.000 0.040 4 169585461 missense variant C/A;T snv 2.0E-05 0.700 1.000 1 2017 2017
dbSNP: rs776098853
rs776098853
NEK1
1 1.000 0.040 4 169508292 missense variant A/T snv 1.0E-04 6.3E-05 0.700 1.000 1 2017 2017
dbSNP: rs779770049
rs779770049
VRK1
1 1.000 0.040 14 96855230 missense variant T/G snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs895824243
rs895824243
OPTN
1 1.000 0.040 10 13110387 missense variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs905184241
rs905184241
TBK1
1 1.000 0.040 12 64481858 missense variant C/G snv 1.2E-05 1.4E-05 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: rs762060740
rs762060740
GFAP
6 0.827 0.080 17 44915083 missense variant G/C snv 4.0E-06 0.030 1.000 3 1996 2005
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: 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: rs121912441
rs121912441
SOD1
2 0.925 0.080 21 31667359 missense variant T/C snv 4.8E-05 7.0E-06 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: rs760982722
rs760982722
GFAP
2 0.925 0.080 17 44915224 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2011 2011