Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1558519119
BCL11A
0.925 0.120 2 60546061 frameshift variant C/- del 3
rs11893842
OBSL1 ; INHA
0.925 0.160 2 219572251 intron variant A/G snv 0.45 2
rs1057523157
SETD2
0.925 0.120 3 47088172 missense variant G/A snv 3
rs1250394819
LOC101927100 ; TMED7-TICAM2 ; TMED7
0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 9
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv 5
rs797045277
ARID1B
0.882 0.280 6 157198907 splice region variant G/A snv 5
rs1563183469
AUTS2
0.925 0.120 7 70766245 missense variant A/C snv 3
rs568887534
DCTN6
0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 9
rs1563406024
FZD3
0.851 0.240 8 28555799 frameshift variant -/A delins 4
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 12
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs387907252
VAX1
0.882 0.160 10 117134559 missense variant G/T snv 3
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1190999960
ZNRD2-AS1 ; ZNRD2 ; FAM89B
0.807 0.240 11 65571690 missense variant G/A snv 9
rs121907917
PAX6
0.807 0.240 11 31794079 stop gained G/A snv 6
rs148634289
SDHD
0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 6
rs1064796460
TUBA1A
0.790 0.400 12 49185197 missense variant C/G;T snv 8
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv 6
rs797045005
TUBA1A
0.851 0.320 12 49185140 missense variant A/G snv 4
rs1057517858
TUBA1A
0.925 0.240 12 49185714 missense variant C/A;T snv 3
rs1565627707
TUBA1A
0.925 0.240 12 49186657 missense variant C/A snv 3
rs750610248
BCL11B
0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06 3
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs1285675735
SORD
0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 6
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5