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: rs139265251
rs139265251 		1.000 0.080 X 48685786 missense variant G/A;C snv 4.5E-04 7.2E-04
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1999 2013
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: 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
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: 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: 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: rs1557007165
rs1557007165 		1.000 0.080 X 48688782 frameshift variant C/- delins
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: rs387906716
rs387906716 		1.000 0.080 X 48688336 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 0.700 0
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: rs782290433
rs782290433 		0.882 0.120 X 48684373 missense variant G/A snv 5.5E-06
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 17 1995 2017
dbSNP: rs782290433
rs782290433 		0.882 0.120 X 48684373 missense variant G/A 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 1.000 13 1995 2017
dbSNP: rs782290433
rs782290433 		0.882 0.120 X 48684373 missense variant G/A snv 5.5E-06
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 13 1995 2017
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: 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: rs139857045
rs139857045 		1.000 0.120 X 48684416 missense variant G/A snv 5.2E-05 1.1E-04
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: rs146220228
rs146220228 		1.000 0.120 X 48685764 missense variant G/A snv 2.6E-03 2.2E-03
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: rs1557006239
rs1557006239 		0.882 0.120 X 48683944 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 10 1995 2017
dbSNP: rs1557006239
rs1557006239 		0.882 0.120 X 48683944 missense 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 1.000 10 1995 2017
dbSNP: rs1557006239
rs1557006239 		0.882 0.120 X 48683944 missense 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 1.000 10 1995 2017
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: 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: 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: rs1557007123
rs1557007123 		0.882 0.120 X 48688689 stop gained 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 6 1995 2015