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: rs1554777919
rs1554777919
STXBP1
9 127669950 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1998 2016