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: rs61753016
rs61753016
MECP2
2 1.000 0.200 X 154030614 missense variant G/A snv 6.8E-05 3.9E-05 0.010 1.000 1 2009 2009
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: rs6530893
rs6530893
TUSC3
2 1.000 0.200 8 15671068 intron variant T/C snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs6994908
rs6994908
TUSC3
2 1.000 0.200 8 15674943 intron variant T/C snv 0.32 0.010 1.000 1 2015 2015
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: rs749457448
rs749457448
DLG3 ; DLG3-AS1
2 1.000 0.200 X 70452622 start lost A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs122455132
rs122455132
SLC16A2
2 0.925 0.200 X 74529232 missense variant T/C snv 0.700 0
dbSNP: rs1555050158
rs1555050158
GRIA4
2 0.925 0.200 11 105926808 missense variant A/T snv 0.700 0
dbSNP: rs1555050171
rs1555050171
GRIA4
2 0.925 0.200 11 105926821 missense variant C/G snv 0.700 0
dbSNP: rs1555050174
rs1555050174
GRIA4
2 0.925 0.200 11 105926824 missense variant C/T snv 0.700 0
dbSNP: rs1569146649
rs1569146649
TCF20
2 1.000 0.200 22 42211545 frameshift variant -/T delins 0.700 0
dbSNP: rs397515486
rs397515486
HCFC1
2 0.925 0.200 X 153964702 missense variant G/A snv 0.700 0
dbSNP: rs398123561
rs398123561
TCF4
2 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs794729221
rs794729221
SLC2A1
2 0.925 0.240 1 42929736 stop gained G/A snv 0.700 0
dbSNP: rs796053290
rs796053290
SLC9A6
2 0.925 0.280 X 135998095 splice region variant TTTTA/- delins 0.700 0
dbSNP: rs869025287
rs869025287
MED13L
2 0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 0.700 0
dbSNP: rs869312674
rs869312674
SYNGAP1
2 0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs878853143
rs878853143
GRIN1
2 0.925 0.200 9 137162209 missense variant C/G;T snv 0.700 0
dbSNP: rs878853149
rs878853149
TCF4
2 0.925 0.240 18 55350388 stop gained G/A snv 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: rs121434614
rs121434614
PAK3
3 0.925 0.200 X 111196570 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs121918523
rs121918523
PHF8
3 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs122468181
rs122468181
UPF3B
3 0.925 0.200 X 119837771 stop gained G/A;T snv 0.010 1.000 1 2013 2013
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