Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 18
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv 17
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 12
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs140291094
STAC3
0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 11
rs140614802
LOC107984670 ; ADSS1
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 10
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs863224880
IGHMBP2
0.925 0.160 11 68906074 stop gained G/A snv 7
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 7
rs886041094
UNC80
0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 7
rs121912823
CHAT
0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 6
rs118192177
RYR1
0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 6