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: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1135402761
rs1135402761
SYT1
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs144900171
rs144900171
SYT1
5 0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1555565492
rs1555565492
RAI1
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1565922388
rs1565922388
SYT1
5 0.925 12 79353599 missense variant T/A snv 0.700 0
dbSNP: rs1565922395
rs1565922395
SYT1
5 0.925 12 79353602 missense variant A/G snv 0.700 0
dbSNP: rs1565962725
rs1565962725
SYT1
5 0.925 12 79448953 missense variant C/A snv 0.700 0
dbSNP: rs886041097
rs886041097
NAA15
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.080 1.000 8 2006 2014
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.060 1.000 6 2002 2018
dbSNP: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.020 1.000 2 2007 2015
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2012 2016
dbSNP: rs6277
rs6277
DRD2
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.020 1.000 2 2009 2010
dbSNP: rs6311
rs6311
HTR2A
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2006 2018
dbSNP: rs79874540
rs79874540
HTR2B ; PSMD1
4 0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03 0.020 1.000 2 2015 2017
dbSNP: rs1004212
rs1004212
NRXN3
2 14 78714883 synonymous variant C/G;T snv 8.0E-06; 0.15 0.010 1.000 1 2011 2011
dbSNP: rs10078866
rs10078866
DRD1
2 1.000 0.080 5 175445317 upstream gene variant A/G snv 5.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs11178999
rs11178999
TPH2
1 12 71939790 intron variant G/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs11617488
rs11617488
LOC107984582
1 13 21619823 intergenic variant A/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs11624704
rs11624704
NRXN3
3 1.000 0.080 14 78319734 intron variant A/C snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs11819869
rs11819869
AMBRA1
2 1.000 0.040 11 46539130 intron variant C/T snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs12364283
rs12364283
DRD2 ; LOC105369501
3 0.925 0.080 11 113476233 upstream gene variant A/G snv 5.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs12765063
rs12765063
CREM ; CUL2
2 10 35127641 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018