Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886043676
rs886043676
DMD
X 31178766 frameshift variant G/- del
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		0.700 0
dbSNP: rs886043676
rs886043676
DMD
X 31178766 frameshift variant G/- del
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.700 0
dbSNP: rs886043676
rs886043676
DMD
X 31178766 frameshift variant G/- del
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0