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: rs794726993
rs794726993
DMD
0.882 0.160 X 32645020 stop gained G/A;C snv
Dmd-Associated Dilated Cardiomyopathy
0.700 1.000 3 2009 2017
dbSNP: rs794726993
rs794726993
DMD
0.882 0.160 X 32645020 stop gained G/A;C snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 3 2009 2017
dbSNP: rs794726993
rs794726993
DMD
0.882 0.160 X 32645020 stop gained G/A;C snv
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
0.700 1.000 3 2009 2017