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: rs310619
rs310619
EEF1A2
1 1.000 0.040 20 63496168 non coding transcript exon variant G/A snv 0.48 0.010 1.000 1 2020 2020
dbSNP: rs6044680
rs6044680 		1 1.000 0.040 20 17205717 upstream gene variant T/C snv 0.66 0.010 1.000 1 2020 2020
dbSNP: rs7274133
rs7274133 		1 1.000 0.040 20 17213024 downstream gene variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs9839376
rs9839376
KCNMB2 ; KCNMB2-AS1
1 1.000 0.040 3 178741877 intron variant T/C snv 0.18 0.010 1.000 1 2020 2020
dbSNP: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.090 1.000 9 2004 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2009 2019
dbSNP: rs4141463
rs4141463
MACROD2
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.820 0.667 3 2010 2019
dbSNP: rs112795301
rs112795301
FOXP1
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2009 2019
dbSNP: rs4307059
rs4307059 		5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.810 1.000 2 2009 2019
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2005 2019
dbSNP: rs751945904
rs751945904
NLGN4X
2 0.925 0.040 X 5893158 missense variant G/A snv 1.1E-05 0.020 1.000 2 2011 2019
dbSNP: rs7603001
rs7603001
ZNF804A
2 0.925 0.040 2 184902089 intron variant A/G;T snv 0.020 0.500 2 2014 2019
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs11191580
rs11191580
NT5C2
13 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1135402760
rs1135402760
BRSK2
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1409313
rs1409313
CUEDC2
2 1.000 0.040 10 102431844 intron variant T/C snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs1625579
rs1625579
MIR137HG
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs2535629
rs2535629
ITIH3
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.010 1.000 1 2019 2019
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 2019 2019
dbSNP: rs869312966
rs869312966
SCN8A
7 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs879255652
rs879255652
SCN8A
7 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs886041116
rs886041116
ADNP
13 0.776 0.240 20 50892526 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs761374228
rs761374228
EIF2AK3
1 1.000 0.040 2 88579603 missense variant G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2016 2018