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: rs1131690782
rs1131690782
TARDBP
1 1.000 0.040 1 11022452 missense variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs80356719
rs80356719
TARDBP
3 0.882 0.080 1 11022268 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2017 2017
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
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: 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: rs1239669755
rs1239669755
IQCG ; LMLN
4 0.851 0.080 3 197960384 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1131690775
rs1131690775
NEK1
1 1.000 0.040 4 169590736 missense variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs200161705
rs200161705
NEK1
5 0.882 0.160 4 169585374 missense variant C/A;T snv 6.0E-05; 2.3E-03 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: 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: rs28942073
rs28942073
HEXB
4 0.851 0.120 5 74718804 missense variant C/T snv 5.9E-04 4.5E-04 0.010 1.000 1 2013 2013
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: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs1169067903
rs1169067903
NUP214
2 0.925 0.040 9 131197276 missense variant G/A snv 0.010 1.000 1 2009 2009
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: rs764735825
rs764735825
UBQLN1 ; LOC105376114
3 0.882 0.120 9 83707518 missense variant C/A snv 2.1E-05 0.010 1.000 1 2012 2012
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: rs747481280
rs747481280
OPTN
4 0.851 0.120 10 13132068 missense variant T/G snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs778098458
rs778098458
VIM ; VIM-AS1
2 0.925 0.080 10 17229556 missense variant G/A;C snv 1.3E-05 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: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.020 1.000 2 2009 2011
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: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2015 2015