Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins 3
rs1555392032
SPRED1
1.000 15 38339805 frameshift variant -/A delins 3
rs1555473499
CREBBP
0.925 0.120 16 3738605 missense variant A/G snv 4
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins 3
rs1555537637
SPNS2
1.000 17 4533107 frameshift variant CC/T delins 3
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv 3
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1555934843
PDHA1
1.000 X 19357651 splice acceptor variant G/A snv 3
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1556019107
PHF6
1.000 X 134415106 stop gained C/T snv 3
rs1556779417
RBM10
1.000 X 47181541 frameshift variant GT/- delins 3
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs1557099144
PHF8
1.000 X 53985131 frameshift variant -/C delins 3
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv 4
rs397514481
PLCB4
0.882 0.040 20 9409080 missense variant G/A;T snv 5
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 19
rs587777357
TUBB
0.925 6 30724263 missense variant G/A snv 4
rs587777695
ZSWIM6
0.925 0.120 5 61544156 missense variant C/T snv 4
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5