Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
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
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 29
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 28
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
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
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
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