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: rs926027867
rs926027867
CAMK2A
12 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs886041521
rs886041521
ANKRD11
1 16 89282157 frameshift variant -/T delins 5.2E-05 0.700 0
dbSNP: rs886041239
rs886041239
SMC3
9 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
dbSNP: rs886041125
rs886041125
ANKRD11
12 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
dbSNP: rs886041090
rs886041090
BRPF1
2 1.000 3 9739449 frameshift variant TG/- delins 0.700 0
dbSNP: rs886041089
rs886041089
FMR1
1 X 147936614 splice donor variant G/A snv 0.700 0
dbSNP: rs886041088
rs886041088
FMR1
1 X 147929940 splice region variant A/C;G;T snv 1.2E-05 0.700 0
dbSNP: rs886040960
rs886040960
KMT2D
2 1.000 0.120 12 49030395 frameshift variant G/- delins 0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs886039396
rs886039396
KCNB1 ; LOC105372649
2 1.000 20 49374626 missense variant G/A snv 0.700 0
dbSNP: rs879255590
rs879255590
CLCN4
1 X 10208595 splice region variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs879255586
rs879255586
CLCN4
1 X 10213979 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs879255585
rs879255585
CLCN4
1 X 10206756 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs879255584
rs879255584
CLCN4
1 X 10220837 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255583
rs879255583
CLCN4
1 X 10213768 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255582
rs879255582
CLCN4
1 X 10213705 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255581
rs879255581
CLCN4
1 X 10206464 missense variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs879255580
rs879255580
CLCN4
1 X 10206437 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs879253753
rs879253753
ANKRD11
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0
dbSNP: rs879253748
rs879253748
GABRA1
5 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0
dbSNP: rs878853264
rs878853264
ARHGAP4 ; NAA10
2 1.000 0.080 X 153932075 missense variant A/T snv 0.700 0
dbSNP: rs876661308
rs876661308
MEF2C
4 1.000 5 88823780 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs875989808
rs875989808
SYNGAP1
3 0.925 0.160 6 33444529 missense variant C/T snv 0.700 0
dbSNP: rs875989807
rs875989807
EP300 ; EP300-AS1
3 0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04 0.700 0
dbSNP: rs875989805
rs875989805
NHS
4 0.925 0.120 X 17687870 stop gained C/T snv 0.700 0