Disease: Proximal muscle weakness
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 6