Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv 2
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del 2
rs878853048
HDAC8
X 72567910 missense variant C/G snv 2
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
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
rs150940923
THOC6
1.000 0.240 16 3027170 missense variant G/C snv 1.8E-04 2.0E-04 3
rs1553212626
POGZ
1.000 1 151406151 frameshift variant -/A delins 3
rs1553212978
POGZ
1.000 1 151406322 frameshift variant -/T delins 3
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
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
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del 3
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv 3
rs1555314736
CHD8
1.000 14 21402335 splice donor variant C/T snv 3
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins 3
rs1555392032
SPRED1
1.000 15 38339805 frameshift variant -/A delins 3
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