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: rs9990174
rs9990174
SLC6A1
2 1.000 0.040 3 10998753 intron variant G/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs945270
rs945270 		3 0.925 0.040 14 55733755 intergenic variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs942758928
rs942758928
MC4R
2 1.000 0.080 18 60371854 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs914655
rs914655
C9orf92
1 9 16208133 intron variant G/T snv 1.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs879253767
rs879253767
SCN2A
6 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
dbSNP: rs875989839
rs875989839
PDE10A
3 1.000 6 165450242 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs875989800
rs875989800
SMARCB1
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
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 2016 2016
dbSNP: rs80356537
rs80356537
ATP1A3
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs778899140
rs778899140
PDE10A
5 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs776423109
rs776423109
C3
2 1.000 0.120 19 6718117 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs773857
rs773857
CPAMD8
1 19 16908042 intron variant C/T snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs75634836
rs75634836
HTR2A
11 0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs750257282
rs750257282
CARS1 ; CARS1-AS1
3 1.000 0.040 11 3038127 missense variant C/G;T snv 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs74315431
rs74315431
VAPB
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2010 2016
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.020 1.000 2 2003 2005
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.010 1.000 1 2017 2017
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2006 2006
dbSNP: rs6296
rs6296
HTR1B ; LOC105377864
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs6278
rs6278
DRD2
2 1.000 0.080 11 113410002 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs6191
rs6191
NR3C1
4 0.925 0.040 5 143278591 3 prime UTR variant C/A snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs61751362
rs61751362
MECP2
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2011 2011