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: rs1556789913
rs1556789913
DMD
0.925 0.160 X 31657989 splice donor variant C/T snv
Dmd-Associated Dilated Cardiomyopathy
0.700 1.000 5 2006 2017
dbSNP: rs1556789913
rs1556789913
DMD
0.925 0.160 X 31657989 splice donor variant C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 0