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: rs128626254
rs128626254
DMD
0.925 0.160 X 31323625 stop gained G/A;T snv 1.1E-05
Dmd-Associated Dilated Cardiomyopathy
0.700 0
dbSNP: rs128626254
rs128626254
DMD
0.925 0.160 X 31323625 stop gained G/A;T snv 1.1E-05
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 0