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: rs1554150607
rs1554150607
MEF2C
2 0.925 0.160 5 88823786 start lost C/G snv 0.700 1.000 4 2009 2013
dbSNP: rs1553630279
rs1553630279
CTNNB1
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
dbSNP: rs1057521721
rs1057521721
GRIA3
5 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs112795301
rs112795301
FOXP1
13 0.776 0.160 3 70972634 stop gained G/A snv 0.710 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
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: rs201968272
rs201968272
DDX11
3 0.925 0.160 12 31089147 missense variant G/A snv 0.010 1.000 1 2013 2013
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: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2000 2000
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
9 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
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: rs397514627
rs397514627
CAMK2G
5 0.882 0.160 10 73842486 missense variant C/A;G snv 0.710 1.000 1 2018 2018
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: rs727505397
rs727505397
CASK
3 0.882 0.240 X 41553782 missense variant C/T snv 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: rs869312865
rs869312865
GRIN1 ; LOC105376328
5 0.827 0.160 9 137156676 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs869312873
rs869312873
NALCN
5 0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1014959895
rs1014959895
PRMT7
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs1131692231
rs1131692231
CYFIP2
13 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0