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: rs367543077
rs367543077
0.882 0.120 1 235450286 stop gained G/A snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015