Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1313319892
POGZ
1.000 1 151406306 stop gained G/A;T snv 7.0E-06 3
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv 3
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv 2
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1554117456
CPLANE1
1.000 5 37245569 stop gained C/A snv 3
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv 3
rs1556019107
PHF6
1.000 X 134415106 stop gained C/T snv 3
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs773157352
OTX2
1.000 14 56804235 stop gained G/A;T snv 8.0E-06 3
rs797044863
ZC4H2
1.000 X 64921894 stop gained G/A snv 3
rs864321692
WAC
0.925 10 28583498 stop gained C/A snv 4
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06 3