Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs113994152
TSEN54
0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 11
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins 9
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 7
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins 7
rs587777449
IFIH1
0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 6
rs118192212
KCNQ2
0.925 0.040 20 63439610 inframe deletion AAG/- delins 6
rs1555975523
CASK
0.851 0.200 X 41534892 splice donor variant C/AT delins 5
rs1562931936
KMT2E
1.000 7 105107527 stop gained C/T snv 5
rs869312708
DYRK1A
1.000 21 37506191 stop gained C/T snv 4
rs201278558
LINC02245 ; LOC107984063 ; SLC1A4
0.925 0.080 2 65010729 missense variant G/A snv 2.3E-04 1.2E-04 3