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
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1555257073
POMP
0.827 0.120 13 28672407 frameshift variant AT/- delins 25
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10