Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
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
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
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
rs150940923
THOC6
1.000 0.240 16 3027170 missense variant G/C snv 1.8E-04 2.0E-04 3
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 19
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv 4
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;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
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs1555473499
CREBBP
0.925 0.120 16 3738605 missense variant A/G snv 4
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs587777695
ZSWIM6
0.925 0.120 5 61544156 missense variant C/T snv 4
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv 4