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: rs1417373701
rs1417373701
SLCO6A1
2 0.925 0.120 5 102399606 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs773403329
rs773403329
SLCO6A1
2 0.925 0.120 5 102419925 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs758576072
rs758576072
RIMS2
4 0.851 0.160 8 104244917 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs377163259
rs377163259
RIMS2
1 1.000 0.120 8 104244975 missense variant G/A snv 2.8E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs756007506
rs756007506
TXNRD1
1 1.000 0.120 12 104327604 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1157289563
rs1157289563
ELP1
2 0.925 0.120 9 108881749 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs6108746
rs6108746 		1 1.000 0.120 20 10922123 intron variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs1314736087
rs1314736087
SYBU
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.030 0.333 3 2012 2017
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.030 1.000 3 2013 2016
dbSNP: rs80356730
rs80356730
TARDBP
7 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs363371
rs363371 		5 0.882 0.120 10 117226885 TF binding site variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs363324
rs363324 		2 0.925 0.120 10 117229651 intergenic variant G/A snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs10101195
rs10101195 		1 1.000 0.120 8 11765703 upstream gene variant C/A snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs1189501362
rs1189501362
GSK3B
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1595014
rs1595014 		3 0.882 0.120 7 12148903 intergenic variant T/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.030 1.000 3 2013 2017
dbSNP: rs7791726
rs7791726
TMEM106B
1 1.000 0.120 7 12243703 downstream gene variant G/C snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.040 1.000 4 2010 2017
dbSNP: rs12546767
rs12546767
WASHC5
2 0.925 0.120 8 125070323 intron variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs746478952
rs746478952
FLNC
1 1.000 0.120 7 128842895 missense variant G/A snv 3.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs747481280
rs747481280
OPTN
4 0.851 0.120 10 13132068 missense variant T/G snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs201795631
rs201795631
SETX
3 0.882 0.200 9 132349336 missense variant T/C;G snv 8.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs6809184
rs6809184
TNIK
1 1.000 0.120 3 171170409 intron variant C/T snv 6.2E-02 0.700 1.000 1 2018 2018