DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 315; N. variants: 38
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B ×
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: rs889145646
rs889145646 		1.000 0.120 20 32801353 missense variant C/T snv 1.4E-05
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016