Disease: Gowers sign
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7
rs1553846331
DOK7
0.925 0.120 4 3473504 missense variant C/T snv 4
rs756015202
DOK7
0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 4