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: rs878853143
rs878853143
GRIN1
2 0.925 0.200 9 137162209 missense variant C/G;T snv 0.700 0
dbSNP: rs118203933
rs118203933
CA2
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
6 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs1249144069
rs1249144069
PITRM1 ; PITRM1-AS1
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1278838206
rs1278838206
PCDH19
3 0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1282813621
rs1282813621
UPF3B
3 0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 0.010 1.000 1 2010 2010
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: 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: rs140032597
rs140032597
UPF3B
3 0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs1427146168
rs1427146168
NUP214
2 1.000 0.200 9 131140671 stop gained C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs199469705
rs199469705
TECR
3 0.925 0.200 19 14564841 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs225010
rs225010
DIO2
2 1.000 0.200 14 80205936 intron variant C/T snv 0.51 0.010 1.000 1 2004 2004
dbSNP: rs587777696
rs587777696
SLC1A1 ; SPATA6L
3 0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs6511901
rs6511901
CC2D1A
2 1.000 0.200 19 13916839 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs745986648
rs745986648
SGO1 ; SGO1-AS1
2 1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs752306
rs752306
DRD4
3 0.925 0.200 11 637622 intron variant C/T snv 6.4E-02 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs1555050174
rs1555050174
GRIA4
2 0.925 0.200 11 105926824 missense variant C/T snv 0.700 0
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
dbSNP: rs878853145
rs878853145
SLC35A2 ; PQBP1
1 1.000 0.200 X 48903017 missense variant C/T snv 0.700 0
dbSNP: rs878853147
rs878853147
NLGN3
3 0.925 0.200 X 71169399 missense variant C/T snv 0.700 0
dbSNP: rs398123561
rs398123561
TCF4
2 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs121918368
rs121918368
TRNT1 ; CRBN
3 0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2008 2013
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs199516560
rs199516560
ABCB1
5 0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 0.010 1.000 1 2008 2008