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: rs398122853
rs398122853
DMD
0.882 0.160 X 33211304 stop gained C/T snv
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.710 1.000 3 2009 2017
dbSNP: rs398122853
rs398122853
DMD
0.882 0.160 X 33211304 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 6 2003 2017
dbSNP: rs398122853
rs398122853
DMD
0.882 0.160 X 33211304 stop gained C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 1.000 3 2009 2017