Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555809836
ADNP
20 50892215 frameshift variant T/- delins 1
rs797044890
ANKRD11
16 89275092 splice donor variant C/T snv 1
rs1554231814
ARID1B
6 157184262 frameshift variant C/- del 1
rs797044859
ARID1B
6 157200765 frameshift variant AT/- del 1
rs1555912419
ASXL1
20 32435823 stop gained G/A snv 1
rs1555918056
BCOR
X 40072918 stop gained G/A snv 1
rs1555815731
BMP7
20 57228383 frameshift variant G/- delins 1
rs750803248
CDH23
10 71646592 frameshift variant -/G delins 1
rs866435331
CDH23 ; C10orf105
10 71712685 stop gained C/T snv 1
rs1554603550
CHD7
8 60850514 missense variant T/G snv 1
rs1554604059
CHD7
8 60852866 frameshift variant AG/- delins 1
rs1554605030
CHD7
8 60856559 frameshift variant -/T delins 1
rs797044919
CHD7
8 60845364 frameshift variant -/C delins 1
rs1555087619
CLPB
11 72308526 splice donor variant C/T snv 1
rs1554787366
COL27A1
9 114167926 frameshift variant T/- del 1
rs1554816354
COL27A1
9 114252621 missense variant G/A snv 1
rs1555475250
CREBBP
16 3744921 stop gained G/A snv 1
rs1555478331
CREBBP
16 3757990 frameshift variant T/- del 1
rs1555393172
DLL4
15 40936659 frameshift variant CGGACGACGGC/- delins 1
rs981267400
DNAH5
5 13871562 splice donor variant A/G snv 4.0E-06 1
rs1553173425
DVL1
1 1338112 frameshift variant G/- delins 1
rs1555984102
DYRK1A ; LOC105372797
21 37490194 frameshift variant AT/- delins 1
rs1556105875
EFNB1
X 68838630 stop gained A/T snv 1
rs1555564006
EFTUD2
17 44852563 splice acceptor variant C/T snv 1
rs1555907749
EP300
22 41131612 frameshift variant -/T delins 1