MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8
Disease: Distal Muscular Dystrophies ×
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: rs121434591
rs121434591 		1.000 5 139307669 missense variant C/G snv
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2014 2017