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: rs886039785
rs886039785
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0