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: rs755587394
rs755587394
1.000 0.040 X 32364661 missense variant G/C snv 1.1E-05 9.5E-06
CUI: C0009917
Disease: Contracture
Contracture
Musculoskeletal Diseases 0.010 1.000 1 2016 2016