Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs1555174708
CCDC65
0.925 12 48916993 frameshift variant A/- del 4
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv 7
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins 7
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17