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: rs1554008611
rs1554008611
CTNND2
5 11236825 splice acceptor variant T/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 8 2003 2017