SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
Disease: Movement Disorders ×
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: rs1555254256
rs1555254256 		1.000 13 23354906 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 21 1993 2016