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: rs199472823
rs199472823
0.851 0.240 11 2571328 missense variant T/C snv
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011