Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1569190079
PDHA1
0.882 0.160 X 19350044 missense variant G/T snv 10
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
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
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
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
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
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10