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
rs1554066397
SMN1 ; SMN2
0.925 0.080 5 70925108 missense variant C/G;T snv 7