Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs1304422857
UBE3B
1.000 12 109511304 splice donor variant G/A;T snv 3
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
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06 3
rs1462161137
METTL23
1.000 17 76733042 frameshift variant -/A delins 7.0E-06 3
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv 3
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv 2
rs1553212626
POGZ
1.000 1 151406151 frameshift variant -/A delins 3
rs1553212978
POGZ
1.000 1 151406322 frameshift variant -/T delins 3
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553353206
MIR4742 ; WDR26
1.000 1 224398525 frameshift variant CATTTAACAA/- delins 3
rs1553479405
GLI2
1.000 2 120989603 frameshift variant C/- del 3
rs1553521389
CUL3
1.000 2 224503679 frameshift variant AG/- delins 3
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1554109707
FLT4
1.000 5 180613051 missense variant C/G;T snv 3
rs1554117456
CPLANE1
1.000 5 37245569 stop gained C/A snv 3
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del 2
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4