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: rs2433718
rs2433718
SLC5A7
1 1.000 0.120 2 107986975 intron variant A/G snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs2504235
rs2504235
FLT3
1 1.000 0.120 13 28038749 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs25532
rs25532
SLC6A4 ; LOC105371720
5 0.851 0.160 17 30237152 upstream gene variant G/A snv 6.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs267606861
rs267606861
HDC
1 1.000 0.120 15 50252520 stop gained C/T snv 0.710 1.000 1 2012 2012
dbSNP: rs2708146
rs2708146
LINC01122
1 1.000 0.120 2 58728818 intron variant A/G snv 0.47 0.710 1.000 2 2019 2019
dbSNP: rs28365054
rs28365054
TDP1
1 1.000 0.120 14 89963514 missense variant G/A;C snv 3.9E-02; 6.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs28914832
rs28914832
SLC6A4
3 0.925 0.120 17 30211356 missense variant T/C;G snv 7.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs315952
rs315952
IL1RN
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs3793798
rs3793798
CHAT
1 1.000 0.120 10 49663420 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs3813929
rs3813929
HTR2C
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs4047771
rs4047771
LOC285500
1 1.000 0.120 4 177549744 intron variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs4271390
rs4271390
NECTIN1
2 0.925 0.120 11 119655426 intron variant T/C snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs4676169
rs4676169
SLC5A7
1 1.000 0.120 2 107993689 intron variant A/G snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2000 2000
dbSNP: rs4714156
rs4714156
BTBD9
2 0.925 0.120 6 38393336 intron variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs4979356
rs4979356
COL27A1
1 1.000 0.120 9 114228704 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4979357
rs4979357
COL27A1
1 1.000 0.120 9 114228715 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs4988462
rs4988462
POU1F1
2 0.925 0.120 3 87264203 intron variant C/T snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs518147
rs518147
HTR2C
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs5569
rs5569
SLC6A2
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2015 2015
dbSNP: rs61752115
rs61752115
PEX13
7 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
dbSNP: rs621942
rs621942 		1 1.000 0.120 11 86072696 upstream gene variant C/A snv 0.26 0.010 1.000 1 2018 2018