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: rs373286166
rs373286166
DMD
0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 1.000 5 2007 2016
dbSNP: rs373286166
rs373286166
DMD
0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.700 1.000 5 2007 2016
dbSNP: rs373286166
rs373286166
DMD
0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 5 2007 2016