Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
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
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins 7