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: rs745805222
rs745805222
IGF1
7 0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05 0.010 1.000 1 2012 2012
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: rs1131690782
rs1131690782
TARDBP
1 1.000 0.040 1 11022452 missense variant G/T snv 0.700 1.000 1 2017 2017
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: 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: 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: rs895824243
rs895824243
OPTN
1 1.000 0.040 10 13110387 missense variant A/C snv 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: 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: 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: 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: 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: 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: 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: 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: rs1131690775
rs1131690775
NEK1
1 1.000 0.040 4 169590736 missense variant A/C snv 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: 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: 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: rs1239669755
rs1239669755
IQCG ; LMLN
4 0.851 0.080 3 197960384 missense variant C/T snv 0.010 1.000 1 2010 2010
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: 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