Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1241142887
DLG3
1.000 X 70445552 stop gained T/A;C snv 8.3E-06 9.4E-06 2
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs137852540
PRPS1
0.925 0.080 X 107640936 missense variant A/G snv 3
rs1555907215
MSL3
1.000 X 11768608 frameshift variant C/- delins 2
rs1555922391
USP9X
1.000 X 41151058 splice donor variant G/A snv 2
rs1555934843
PDHA1
1.000 X 19357651 splice acceptor variant G/A snv 3
rs1555939377
RPS6KA3
1.000 X 20187890 stop gained C/A snv 2
rs1555943503
RPS6KA3
1.000 X 20195156 intron variant T/C snv 2
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1555953166
DDX3X
1.000 X 41343288 splice acceptor variant G/A snv 2
rs1555953548
DDX3X
1.000 X 41344350 missense variant C/T snv 2
rs1555985372
PCDH19
1.000 X 100407591 frameshift variant -/C delins 2
rs1556019107
PHF6
1.000 X 134415106 stop gained C/T snv 3
rs1556026984
HPRT1
0.925 0.120 X 134475194 missense variant G/C snv 4
rs1556055108
ARX
1.000 X 25013073 stop gained C/A snv 2
rs1556200443
CUL4B
1.000 X 120538659 splice donor variant C/- delins 2
rs1556235119
UBE2A
1.000 X 119574712 start lost A/G 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
rs1557084120
PRAF2 ; WDR45
1.000 X 49075874 stop gained G/A snv 2
rs1557099144
PHF8
1.000 X 53985131 frameshift variant -/C delins 3
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10