STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
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: 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
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
dbSNP: rs188212047
rs188212047 		1.000 0.080 19 7642058 missense variant G/T snv 8.0E-05 3.5E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2303116
rs2303116 		1.000 0.040 19 7641770 synonymous variant C/T snv 7.5E-03 2.1E-03
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6791
rs6791 		1.000 0.040 19 7647391 missense variant A/G snv 0.63 0.67
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 < 0.001 1 2015 2015