Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
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
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
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
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10