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: rs369758958
rs369758958
1.000 0.120 1 228316753 missense variant C/T snv 3.3E-05 7.0E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017