Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv 6
rs180177041
BRAF
0.851 0.240 7 140777006 missense variant C/G snv 5
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs869320713
LOC107984190 ; ZMYND11
0.851 0.120 10 248370 missense variant G/A snv 6
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs121918243
MMACHC
0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 5
rs141949212
OCA2
0.882 0.160 15 27845052 missense variant C/T snv 4.0E-05 2.0E-04 5
rs1554770667
GRIN1
0.882 9 137163845 missense variant C/T snv 4
rs397514481
PLCB4
0.882 0.040 20 9409080 missense variant G/A;T snv 5
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
rs587780586
SCN8A
0.882 0.160 12 51765675 missense variant G/A snv 4
rs796943858
CSTB
0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05 4
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs1057516904
MCOLN1
0.925 0.160 19 7528881 frameshift variant -/A delins 3
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
rs1057521070
TCF4
0.925 0.200 18 55228999 missense variant C/T snv 3
rs1131690805
H1-4 ; H2BC5
0.925 6 26156815 frameshift variant -/G delins 3
rs1131692154
SYNGAP1
0.925 0.160 6 33432700 stop gained C/T snv 6
rs1182326570
FBXL4
0.925 6 98926883 stop gained T/A snv 8.0E-06 3
rs1197561990
NEB
0.925 0.080 2 151664609 splice acceptor variant C/G;T snv 7.0E-06 3
rs120074152
VPS13B
0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06 3