DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201217593
rs201217593
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.700 0