Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 19
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 15
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs397514481
PLCB4
0.882 0.040 20 9409080 missense variant G/A;T snv 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
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
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4