Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv 14
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs10830963
MTNR1B
0.776 0.400 11 92975544 intron variant C/G snv 0.22 10
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10