ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Congenital Fiber Type Disproportion ×
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: rs886041268
rs886041268 		1.000 0.080 7 5529381 missense variant C/T snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019