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: rs1057524157
rs1057524157
DEAF1
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 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: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554944271
rs1554944271
DEAF1
14 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1555743003
rs1555743003
ASXL3
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1555883505
rs1555883505
EEF1A2
10 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1057521223
rs1057521223
SCN2A
5 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
dbSNP: rs1057524820
rs1057524820
SCN8A
33 0.776 0.280 12 51765746 missense variant G/A;T snv 0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
6 0.925 0.040 X 136016706 frameshift variant GT/- delins 0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/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: rs1380822792
rs1380822792
NAA15
7 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
13 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
23 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
dbSNP: rs146539065
rs146539065
SEPSECS
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555358382
rs1555358382
GCH1
6 14 54844115 stop gained G/A snv 0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0