Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 ×
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: rs397514619
rs397514619 		0.925 0.080 X 153565081 missense variant G/A snv
CUI: C0796205
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1
SPINOCEREBELLAR ATAXIA, X-LINKED 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2012 2012