Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38