Source: CLINVAR

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: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant C/- delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0