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: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs773722162
rs773722162
CELSR2
5 0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05 0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
10 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
dbSNP: rs1555380716
rs1555380716
SLC12A6
5 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs369634007
rs369634007
TMEM87B
10 0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs753520553
rs753520553
NAGLU
10 0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs886041045
rs886041045
SMARCA2
5 1.000 0.280 9 2086854 missense variant A/G snv 0.700 0
dbSNP: rs374993554
rs374993554
TAF6
3 0.925 7 100113899 missense variant A/G;T snv 3.2E-05 0.700 0
dbSNP: rs1135402760
rs1135402760
BRSK2
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1223073957
rs1223073957
MED25
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1555564126
rs1555564126
EFTUD2
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs531630376
rs531630376
PCDH12
4 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1251713297
rs1251713297
PRMT7
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs1565369746
rs1565369746
KCNK4 ; KCNK4-TEX40
5 11 64297507 missense variant C/A snv 0.700 0
dbSNP: rs1565977796
rs1565977796
CDK8
7 0.882 0.120 13 26337623 stop gained C/A snv 0.700 0
dbSNP: rs869312696
rs869312696
ASXL3
5 0.882 0.160 18 33739086 stop gained C/A snv 0.700 0
dbSNP: rs483352822
rs483352822
RIT1
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs367557471
rs367557471
CHD7
4 1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05 0.700 0
dbSNP: rs80338758
rs80338758
MED12
12 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
dbSNP: rs147484110
rs147484110
CSTB
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 0
dbSNP: rs886039814
rs886039814
WDR19
13 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
dbSNP: rs886041097
rs886041097
NAA15
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0