XYLT1, xylosyltransferase 1, 64131

N. diseases: 141; N. variants: 19
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: rs74643788
rs74643788 		1.000 0.120 16 17268972 intron variant C/G;T snv
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