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: rs1294642759
rs1294642759
FOXP1
2 1.000 0.080 3 70959372 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1301785134
rs1301785134
ATR
3 0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1301796529
rs1301796529
LDLR ; MIR6886
1 19 11113444 missense variant C/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs132630328
rs132630328
GK
3 0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 0.010 1.000 1 1996 1996
dbSNP: rs1335072648
rs1335072648
RAD21
2 1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1364926780
rs1364926780
ABCB1
5 0.882 0.200 7 87550272 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1372862248
rs1372862248
GPT2
2 1.000 0.120 16 46926991 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1404008939
rs1404008939
ABCB1
4 0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1427146168
rs1427146168
NUP214
2 1.000 0.200 9 131140671 stop gained C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1438466809
rs1438466809
KCNJ1
2 11 128840191 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs145390085
rs145390085
L2HGDH
2 1.000 0.040 14 50269297 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1464216639
rs1464216639
MAN1B1
2 1.000 9 137106289 stop gained G/A snv 6.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs1471281484
rs1471281484
WAPL
2 1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs165656
rs165656
COMT
5 0.925 0.200 22 19961340 intron variant G/A;C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs185645212
rs185645212
POLG
6 0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs1882260
rs1882260
NLGN4X
2 1.000 0.040 X 5890820 3 prime UTR variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs199469705
rs199469705
TECR
3 0.925 0.200 19 14564841 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs200115000
rs200115000
CAMK2B
2 1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs255012
rs255012 		2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs267607165
rs267607165
TUBB3
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs267608383
rs267608383
MECP2
2 1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06 0.010 1.000 1 2009 2009
dbSNP: rs267608402
rs267608402
MECP2
2 1.000 0.200 X 154030650 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs281860639
rs281860639
KDM5C ; MIR6894
2 1.000 0.080 X 53199048 stop gained G/T snv 0.010 1.000 1 2011 2011
dbSNP: rs28934904
rs28934904
MECP2
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs35693326
rs35693326
RS1 ; CDKL5
1 X 18653446 missense variant G/A;T snv 8.5E-03; 5.5E-06 0.010 1.000 1 2014 2014