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: rs5848
rs5848
GRN ; FAM171A2
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.030 1.000 3 2010 2014
dbSNP: rs704180
rs704180
ABCC9
6 0.807 0.240 12 21841177 intron variant A/G snv 0.55 0.030 1.000 3 2015 2017
dbSNP: rs104894718
rs104894718
SCN1B
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs16990018
rs16990018
PRNP
5 0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02 0.010 1.000 1 2004 2004
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: rs3812718
rs3812718
SCN1A ; SCN1A-AS1
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs527479125
rs527479125
DEPDC5
1 1.000 22 31845200 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 < 0.001 1 2018 2018
dbSNP: rs73069071
rs73069071
IAPP ; SLCO1A2
6 0.807 0.240 12 21357370 intron variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs748813142
rs748813142
DEPDC5
1 1.000 22 31754941 missense variant A/G snv 6.0E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs754059546
rs754059546
DEPDC5
1 1.000 22 31845227 missense variant G/A snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 < 0.001 1 2018 2018