WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
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: rs1057517845
rs1057517845 		0.882 0.120 X 48688097 splice donor variant G/A snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057517845
rs1057517845 		0.882 0.120 X 48688097 splice donor variant G/A snv
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057517845
rs1057517845 		0.882 0.120 X 48688097 splice donor variant G/A snv
CUI: C1845987
Disease: Neutropenia, Severe Congenital, X-Linked
Neutropenia, Severe Congenital, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057520700
rs1057520700 		1.000 0.120 X 48685634 splice donor variant G/A;C;T snv
CUI: C0025222
Disease: Melena
Melena 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1057520700
rs1057520700 		1.000 0.120 X 48685634 splice donor variant G/A;C;T snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		Digestive System Diseases 0.700 0
dbSNP: rs1057520700
rs1057520700 		1.000 0.120 X 48685634 splice donor variant G/A;C;T snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1064793293
rs1064793293 		1.000 0.120 X 48689434 missense variant G/A snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 1999 2011
dbSNP: rs132630268
rs132630268 		0.882 0.120 X 48684407 missense variant G/A;C;T snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.710 1.000 19 1994 2013
dbSNP: rs132630268
rs132630268 		0.882 0.120 X 48684407 missense variant G/A;C;T snv
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 9 1997 2013
dbSNP: rs132630268
rs132630268 		0.882 0.120 X 48684407 missense variant G/A;C;T snv
CUI: C1845987
Disease: Neutropenia, Severe Congenital, X-Linked
Neutropenia, Severe Congenital, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 9 1997 2013
dbSNP: rs132630269
rs132630269 		1.000 0.080 X 48684317 missense variant C/T snv
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs132630270
rs132630270 		1.000 0.080 X 48686928 missense variant C/G snv
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs132630271
rs132630271 		1.000 0.120 X 48683953 stop gained C/A;T snv 5.5E-06
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs132630272
rs132630272 		0.925 0.120 X 48684394 missense variant T/C snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 12 1995 2010
dbSNP: rs132630272
rs132630272 		0.925 0.120 X 48684394 missense variant T/C snv
CUI: C4016481
Disease: WISKOTT-ALDRICH SYNDROME, ATTENUATED
WISKOTT-ALDRICH SYNDROME, ATTENUATED 		0.700 0
dbSNP: rs132630273
rs132630273 		0.925 0.120 X 48684284 missense variant C/T snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 12 1995 2010
dbSNP: rs132630273
rs132630273 		0.925 0.120 X 48684284 missense variant C/T snv
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 6 1995 2017
dbSNP: rs132630273
rs132630273 		0.925 0.120 X 48684284 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs132630274
rs132630274 		0.882 0.120 X 48688331 missense variant T/C snv
CUI: C1845987
Disease: Neutropenia, Severe Congenital, X-Linked
Neutropenia, Severe Congenital, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 1 2001 2001
dbSNP: rs132630274
rs132630274 		0.882 0.120 X 48688331 missense variant T/C snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs132630274
rs132630274 		0.882 0.120 X 48688331 missense variant T/C snv
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs132630274
rs132630274 		0.882 0.120 X 48688331 missense variant T/C snv
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs132630275
rs132630275 		0.925 0.080 X 48684323 missense variant C/A;G snv
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 5 1995 2002
dbSNP: rs132630275
rs132630275 		0.925 0.080 X 48684323 missense variant C/A;G snv
CUI: C1839164
Disease: Thrombocytopenia, X-Linked, Intermittent
Thrombocytopenia, X-Linked, Intermittent 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs132630276
rs132630276 		0.925 0.080 X 48689423 missense variant T/A snv
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 5 1995 2002