Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1555257073
POMP
0.827 0.120 13 28672407 frameshift variant AT/- delins 25
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs1554199368
NSD1
0.827 0.160 5 177256956 missense variant C/T snv 12
rs886039908
GPC3
0.925 0.360 X 133536175 frameshift variant A/- delins 5