ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
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: rs104894003
rs104894003
0.827 0.320 7 5528536 missense variant G/A snv
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia
Nervous System Diseases 0.800 1.000 2 2002 2006
dbSNP: rs1166509821
rs1166509821
0.925 0.240 7 5529305 missense variant G/A;C snv 4.0E-06
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia
Nervous System Diseases 0.700 0