Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv 7
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv 6
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1481733213
ATR
0.851 0.240 3 142568059 splice region variant T/C snv 5
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51