STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 ×
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: rs773360200
rs773360200 		1.000 0.040 19 7644720 missense variant G/A;C snv 1.6E-05
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		Hemic and Lymphatic Diseases 0.800 1.000 6 2009 2017
dbSNP: rs121918540
rs121918540 		1.000 0.040 19 7646322 missense variant C/T snv 4.2E-06 1.4E-05
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		Hemic and Lymphatic Diseases 0.800 1.000 2 2009 2009
dbSNP: rs121918541
rs121918541 		1.000 0.040 19 7642081 missense variant T/A;C snv 4.0E-06
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		Hemic and Lymphatic Diseases 0.800 1.000 2 2009 2009
dbSNP: rs140148806
rs140148806 		1.000 0.040 19 7645196 splice acceptor variant G/C snv 2.0E-04 2.3E-04
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		Hemic and Lymphatic Diseases 0.700 1.000 7 2009 2017
dbSNP: rs61736587
rs61736587 		1.000 0.040 19 7647436 missense variant G/A;T snv 2.3E-04; 4.0E-06
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		Hemic and Lymphatic Diseases 0.700 1.000 4 2010 2013
dbSNP: rs746897867
rs746897867 		1.000 0.040 19 7642509 missense variant G/A snv 8.0E-06
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		Hemic and Lymphatic Diseases 0.700 1.000 2 2009 2009
dbSNP: rs769717341
rs769717341 		1.000 0.040 19 7644719 missense variant C/T snv 1.6E-05
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		Hemic and Lymphatic Diseases 0.700 1.000 2 2009 2009
dbSNP: rs1555769166
rs1555769166 		1.000 0.040 19 7639773 frameshift variant TG/- del
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1568463402
rs1568463402 		1.000 0.040 19 7639065 frameshift variant G/- del
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		Hemic and Lymphatic Diseases 0.700 0