Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
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
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs1569190079
PDHA1
0.882 0.160 X 19350044 missense variant G/T snv 10
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins 9
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
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8