rs1554777375, STXBP1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 9 127665304 frameshift variant -/A delins 0.700 1.000 27 1998 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 9 127665304 frameshift variant -/A delins 0.700 1.000 27 1998 2016