rs193922721
|
0.925 |
0.120 |
17 |
42322413 |
missense variant |
T/C
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
7 |
2007 |
2016 |
rs113994135
|
0.925 |
0.120 |
17 |
42329643 |
missense variant |
G/A
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2007 |
2014 |
rs113994139
|
0.925 |
0.120 |
17 |
42322474 |
missense variant |
C/T
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
2007 |
2016 |
rs397514766
|
1.000 |
0.120 |
17 |
42329621 |
missense variant |
G/A
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
4 |
2007 |
2016 |
rs886039434
|
0.925 |
0.120 |
17 |
42322404 |
missense variant |
A/G
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2010 |
2018 |
rs193922716
|
0.925 |
0.120 |
17 |
42333719 |
missense variant |
G/A
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2008 |
2012 |
rs869312892
|
0.925 |
0.120 |
17 |
42316899 |
missense variant |
G/A
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2014 |
2015 |
rs869312890
|
0.925 |
0.120 |
17 |
42339328 |
missense variant |
G/A
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1131691476
|
1.000 |
0.120 |
17 |
42317209 |
missense variant |
A/G
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs113994136
|
0.827 |
0.240 |
17 |
42329642 |
missense variant |
C/A;T
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs113994138
|
1.000 |
0.120 |
17 |
42325038 |
inframe deletion |
CAC/-
|
delins
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555563717
|
1.000 |
0.120 |
17 |
42322407 |
missense variant |
A/T
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555566820
|
1.000 |
0.120 |
17 |
42333736 |
missense variant |
A/T
|
snv
|
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs113994137
|
1.000 |
0.120 |
17 |
42329423 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|