STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
Disease: Familial Hemophagocytic Lymphocytosis ×
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: rs140148806
rs140148806 		1.000 0.040 19 7645196 splice acceptor variant G/C snv 2.0E-04 2.3E-04
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		Hemic and Lymphatic Diseases 0.700 1.000 5 2009 2012