rs1554777919, 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 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 9 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016