Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6
rs1560092224
ZBTB20
0.925 0.040 3 114339276 missense variant T/A snv 5
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins 7
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv 6
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1555174708
CCDC65
0.925 12 48916993 frameshift variant A/- del 4
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23