Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv 3
rs397514481
PLCB4
0.882 0.040 20 9409080 missense variant G/A;T snv 5
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins 3
rs1462161137
METTL23
1.000 17 76733042 frameshift variant -/A delins 7.0E-06 3
rs878853048
HDAC8
X 72567910 missense variant C/G snv 2
rs80358312
LRP5
0.925 0.080 11 68403607 missense variant G/A snv 7.0E-06 4
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 19
rs797044863
ZC4H2
1.000 X 64921894 stop gained G/A snv 3
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs587777695
ZSWIM6
0.925 0.120 5 61544156 missense variant C/T snv 4
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs886040988
CHD7
1.000 0.080 8 60830422 missense variant T/A snv 3
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs797044884
PTRH2 ; CLTC
0.925 17 59677123 frameshift variant -/GA delins 4
rs766667249
PIGQ
1.000 16 578912 inframe deletion ACT/- delins 1.5E-04 1.1E-04 3
rs747661902
PIGQ
1.000 16 578404 frameshift variant TG/- del 2.8E-05 2.1E-05 3
rs773157352
OTX2
1.000 14 56804235 stop gained G/A;T snv 8.0E-06 3