Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs104894578
KCNJ2
0.807 0.280 17 70175691 missense variant C/T snv 6
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv 6
rs1553370918
MYCN
0.851 0.360 2 15945602 frameshift variant TG/- delins 6
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv 7
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs797045954
SF3B4
0.851 0.160 1 149923568 frameshift variant TCGAGGGGGAACTGGTGGCC/- delins 5
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43