STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Overgrowth ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554777919
rs1554777919 		9 127669950 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 27 1998 2016