Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7
rs104894578
KCNJ2
0.807 0.280 17 70175691 missense variant C/T snv 6
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv 6
rs1553761113
ATR
0.851 0.240 3 142507967 missense variant C/A snv 5
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs1553370918
MYCN
0.851 0.360 2 15945602 frameshift variant TG/- delins 6
rs797045954
SF3B4
0.851 0.160 1 149923568 frameshift variant TCGAGGGGGAACTGGTGGCC/- delins 5
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24