Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
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
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins 9
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
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
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
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
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15