Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 17
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 15
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
rs376493409
CEP290
0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 12
rs387906692
FAM20A ; PRKAR1A
0.752 0.480 17 68530405 stop gained C/T snv 11
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv 10
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 8
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8