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: rs128626235
rs128626235
DMD
0.925 0.160 X 32816565 stop gained G/A;T snv 5.5E-06
Dmd-Associated Dilated Cardiomyopathy
0.700 1.000 4 1994 2013
dbSNP: rs128626235
rs128626235
DMD
0.925 0.160 X 32816565 stop gained G/A;T snv 5.5E-06
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 0