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
rs1553370918
MYCN
0.851 0.360 2 15945602 frameshift variant TG/- delins 6
rs1481733213
ATR
0.851 0.240 3 142568059 splice region variant T/C snv 5
rs1553761113
ATR
0.851 0.240 3 142507967 missense variant C/A snv 5
rs797045954
SF3B4
0.851 0.160 1 149923568 frameshift variant TCGAGGGGGAACTGGTGGCC/- delins 5
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
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
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
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
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 2
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17