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: rs202153551
rs202153551
RS1 ; CDKL5
1 1.000 0.160 X 18650466 stop gained C/T snv 2.0E-04 6.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs63485860
rs63485860
MECP2
1 1.000 0.160 X 154031211 missense variant C/G;T snv 2.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs1554150607
rs1554150607
MEF2C
2 0.925 0.160 5 88823786 start lost C/G snv 0.700 1.000 4 2009 2013
dbSNP: rs1554041295
rs1554041295
ZSWIM6
2 0.925 0.160 5 61541917 stop gained C/T snv 0.700 1.000 1 2017 2017
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: rs794729668
rs794729668
FUZ ; MED25
2 0.925 0.160 19 49818457 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs797045036
rs797045036
TRNT1 ; CRBN
2 0.925 0.160 3 3151023 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1135401761
rs1135401761
AHDC1
2 0.925 0.200 1 27548302 stop gained G/A;C snv 0.700 0
dbSNP: rs45514095
rs45514095
TSC2
2 0.925 0.160 16 2085323 splice donor variant G/A snv 0.700 0
dbSNP: rs796052056
rs796052056
TMEM70
3 0.882 0.240 8 73976397 frameshift variant -/GT delins 0.700 1.000 3 2008 2014
dbSNP: rs201968272
rs201968272
DDX11
3 0.925 0.160 12 31089147 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs387906739
rs387906739
DYNC1H1 ; LOC107984661
3 0.882 0.200 14 102039416 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs387906740
rs387906740
DYNC1H1
3 0.882 0.200 14 102002546 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs727505397
rs727505397
CASK
3 0.882 0.240 X 41553782 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1555321402
rs1555321402
FOXG1
3 0.925 0.240 14 28768345 frameshift variant T/- delins 0.700 0
dbSNP: rs886041300
rs886041300
KCNH1
3 1.000 0.160 1 210920032 missense variant C/T snv 0.700 0
dbSNP: rs1556024875
rs1556024875
THOC2
4 0.882 0.160 X 123634002 missense variant G/A snv 0.700 0
dbSNP: rs1556910184
rs1556910184
HUWE1
4 0.882 0.240 X 53534615 missense variant C/G snv 0.700 0
dbSNP: rs730882202
rs730882202
CACNA1G
4 0.925 0.160 17 50571953 inframe deletion TTC/- delins 0.700 0
dbSNP: rs796053356
rs796053356
STXBP1
4 0.882 0.160 9 127663344 missense variant G/A snv 0.700 0
dbSNP: rs869025316
rs869025316
UNC80
4 0.925 0.160 2 209918616 missense variant C/T snv 3.8E-05 2.8E-05 0.700 0
dbSNP: rs869025317
rs869025317
UNC80
4 0.925 0.160 2 209959707 missense variant G/C snv 0.700 0
dbSNP: rs869025318
rs869025318
UNC80
4 0.925 0.160 2 209820379 frameshift variant A/- delins 0.700 0
dbSNP: rs869025319
rs869025319
UNC80
4 0.925 0.160 2 209967586 stop gained T/A snv 0.700 0
dbSNP: rs1057521721
rs1057521721
GRIA3
5 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017