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: rs202102815
rs202102815
SCN4A
1 17 63941396 missense variant G/A;T snv 1.5E-04; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17601696
rs17601696 		2 10 121360522 intergenic variant C/T snv 6.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs10835211
rs10835211
BDNF ; BDNF-AS
3 1.000 0.080 11 27679818 intron variant G/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1553475005
rs1553475005
CHN1
4 1.000 0.120 2 174824485 missense variant A/G snv 0.700 0
dbSNP: rs121434591
rs121434591
MATR3
5 1.000 5 139307669 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs2949506
rs2949506 		5 0.851 0.160 18 30217168 intergenic variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs10163755
rs10163755
DSG4 ; DSG1-AS1
6 0.827 0.200 18 31405413 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs73956431
rs73956431
B4GALT6
6 0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs140226130
rs140226130
CCDC178
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs28937581
rs28937581
DYSF
9 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs137852959
rs137852959
PANK2 ; MIR103B2
9 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
dbSNP: rs121908096
rs121908096
CYP27A1
10 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
10 0.827 0.320 2 218809576 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1334099693
rs1334099693
SOX4
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs797045283
rs797045283
ARID1B
11 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
12 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
13 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
dbSNP: rs201518227
rs201518227
TOR1AIP1
13 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
15 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
dbSNP: rs774277300
rs774277300
MRE11
17 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
17 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0