Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555977248
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 13 2008 2015