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: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G 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: 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: 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: rs1553475005
rs1553475005
CHN1
4 1.000 0.120 2 174824485 missense variant A/G snv 0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
10 0.827 0.320 2 218809576 splice acceptor variant G/T 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
dbSNP: rs121434591
rs121434591
MATR3
5 1.000 5 139307669 missense variant C/G snv 0.010 1.000 1 2017 2017
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: rs387907260
rs387907260
KCTD7
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs1554699491
rs1554699491
AGTPBP1
23 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
23 0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 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: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 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: rs1555968941
rs1555968941
CACNA1C
31 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 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: rs878853250
rs878853250
SCN8A
37 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
dbSNP: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014