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: 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: C4016481
Disease: WISKOTT-ALDRICH SYNDROME, ATTENUATED
WISKOTT-ALDRICH SYNDROME, ATTENUATED 		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: rs1557006354
rs1557006354 		0.882 0.120 X 48684421 stop gained 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: rs1557006354
rs1557006354 		0.882 0.120 X 48684421 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 0
dbSNP: rs1557006354
rs1557006354 		0.882 0.120 X 48684421 stop gained 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 0
dbSNP: rs1557006672
rs1557006672 		1.000 0.120 X 48686128 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 0
dbSNP: rs1557007035
rs1557007035 		1.000 0.120 X 48688373 frameshift variant C/- delins
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: 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: rs193922414
rs193922414 		1.000 0.120 X 48685583 stop gained C/G;T snv 6.1E-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: rs193922415
rs193922415 		1.000 0.120 X 48683890 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 0
dbSNP: rs193922416
rs193922416 		1.000 0.120 X 48688077 frameshift variant -/C delins
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: 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: rs387906717
rs387906717 		0.827 0.120 X 48688403 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: rs587776742
rs587776742 		1.000 0.120 X 48683854 start lost A/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: rs587776743
rs587776743 		1.000 0.120 X 48685760 inframe insertion -/ACGAGG delins
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