Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs2254298
CAV3 ; OXTR
0.701 0.200 3 8760542 intron variant G/A snv 0.16 23
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs75184679
RNASEH2B
0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 16
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv 10
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del 9
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv 7
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs267608463
MECP2
0.925 0.120 X 154032206 splice donor variant C/A;T snv 5