ADCY8, adenylate cyclase 8, 114

N. diseases: 29; N. variants: 5
Disease: Muscular Dystrophy, Duchenne ×
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: rs12547243
rs12547243 		1.000 0.120 8 130909710 splice region variant A/G snv 0.64 0.58
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018