Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1560092224
ZBTB20
0.925 0.040 3 114339276 missense variant T/A snv 5
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv 6