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: rs1556880327
rs1556880327
DMD
X 31774182 frameshift variant -/T delins
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1556880327
rs1556880327
DMD
X 31774182 frameshift variant -/T delins
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		0.700 0