Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894578
KCNJ2
0.807 0.280 17 70175691 missense variant C/T snv 6
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv 6
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1481733213
ATR
0.851 0.240 3 142568059 splice region variant T/C snv 5
rs1553370918
MYCN
0.851 0.360 2 15945602 frameshift variant TG/- delins 6
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv 7
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1553761113
ATR
0.851 0.240 3 142507967 missense variant C/A snv 5
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26