Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17