Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs886039814
WDR19
0.807 0.200 4 39218060 missense variant C/G snv 13
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv 12
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs387906692
FAM20A ; PRKAR1A
0.752 0.480 17 68530405 stop gained C/T snv 11
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv 11
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs1554844486
KAT6B
0.827 0.160 10 75024984 frameshift variant GGGT/- del 10