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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs114444506
rs114444506
ANO3 ; LOC105376598 ; ANO3-AS1
1 1.000 0.080 11 26325284 intron variant T/C snv 1.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
18 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2004 2004
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962
CACNA1A
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs786200963
rs786200963
CACNA1A
6 0.827 0.200 19 13371683 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs2724384
rs2724384
CD46
1 1.000 0.080 1 207756858 intron variant G/A snv 0.80 0.700 1.000 1 2014 2014
dbSNP: rs201439531
rs201439531
CHAT
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs769234940
rs769234940
CHAT
11 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
11 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.010 1.000 1 2012 2012
dbSNP: rs1398830127
rs1398830127
GABBR1
2 0.925 0.080 6 29610981 missense variant C/T snv 4.1E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1805057
rs1805057
GABBR1
2 0.925 0.080 6 29613344 missense variant C/T snv 1.1E-03 1.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs211037
rs211037
GABRG2
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.050 0.800 5 2012 2018
dbSNP: rs121909673
rs121909673
GABRG2
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs210987
rs210987
GABRG2
2 0.925 0.080 5 162108749 intron variant C/T snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs211014
rs211014
GABRG2
2 0.925 0.080 5 162149412 3 prime UTR variant C/A snv 0.30 0.010 1.000 1 2007 2007
dbSNP: rs267606837
rs267606837
GABRG2
4 0.851 0.080 5 162097839 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1564365418
rs1564365418
GRIN1
5 0.882 0.120 9 137163846 missense variant G/T snv 0.700 0
dbSNP: rs273259
rs273259
IFI44L
1 1.000 0.080 1 78628133 missense variant A/G snv 0.38 0.36 0.710 1.000 1 2014 2014
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2018 2018