Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv 14
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs763028380
ABCC8
0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 12
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 12
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins 9
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv 8