rs587776744
|
1.000 |
0.120 |
X |
48688821 |
frameshift variant |
G/-
|
delins
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs587776745
|
1.000 |
0.120 |
X |
48683860 |
frameshift variant |
G/-
|
delins
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs132630274
|
0.882 |
0.120 |
X |
48688331 |
missense variant |
T/C
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.810 |
1.000 |
1 |
2001 |
2001 |
rs132630274
|
0.882 |
0.120 |
X |
48688331 |
missense variant |
T/C
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs132630275
|
0.925 |
0.080 |
X |
48684323 |
missense variant |
C/A;G
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1995 |
2002 |
rs132630276
|
0.925 |
0.080 |
X |
48689423 |
missense variant |
T/A
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1995 |
2002 |
rs1569494025
|
0.882 |
0.120 |
X |
48688724 |
frameshift variant |
G/-
|
delins
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
1996 |
2002 |
rs1569494025
|
0.882 |
0.120 |
X |
48688724 |
frameshift variant |
G/-
|
delins
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
1996 |
2002 |
rs1569494025
|
0.882 |
0.120 |
X |
48688724 |
frameshift variant |
G/-
|
delins
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
1996 |
2002 |
rs132630274
|
0.882 |
0.120 |
X |
48688331 |
missense variant |
T/C
|
snv
|
|
|
Severe congenital neutropenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs132630274
|
0.882 |
0.120 |
X |
48688331 |
missense variant |
T/C
|
snv
|
|
|
Congenital neutropenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs387906717
|
0.827 |
0.120 |
X |
48688403 |
missense variant |
T/C
|
snv
|
|
|
Leukopenia
|
Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs387906717
|
0.827 |
0.120 |
X |
48688403 |
missense variant |
T/C
|
snv
|
|
|
Neutropenia
|
Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs387906717
|
0.827 |
0.120 |
X |
48688403 |
missense variant |
T/C
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs132630272
|
0.925 |
0.120 |
X |
48684394 |
missense variant |
T/C
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2010 |
rs132630273
|
0.925 |
0.120 |
X |
48684284 |
missense variant |
C/T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2010 |
rs139857045
|
1.000 |
0.120 |
X |
48684416 |
missense variant |
G/A
|
snv
|
5.2E-05
|
1.1E-04
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2010 |
rs146220228
|
1.000 |
0.120 |
X |
48685764 |
missense variant |
G/A
|
snv
|
2.6E-03
|
2.2E-03
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2010 |
rs387906717
|
0.827 |
0.120 |
X |
48688403 |
missense variant |
T/C
|
snv
|
|
|
MYELODYSPLASTIC SYNDROME
|
Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs387906717
|
0.827 |
0.120 |
X |
48688403 |
missense variant |
T/C
|
snv
|
|
|
Myelodysplasia
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1064793293
|
1.000 |
0.120 |
X |
48689434 |
missense variant |
G/A
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
1999 |
2011 |
rs132630268
|
0.882 |
0.120 |
X |
48684407 |
missense variant |
G/A;C;T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
19 |
1994 |
2013 |
rs132630268
|
0.882 |
0.120 |
X |
48684407 |
missense variant |
G/A;C;T
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs132630268
|
0.882 |
0.120 |
X |
48684407 |
missense variant |
G/A;C;T
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs139265251
|
1.000 |
0.080 |
X |
48685786 |
missense variant |
G/A;C
|
snv
|
4.5E-04
|
7.2E-04
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
1999 |
2013 |