rs121918568
|
1.000 |
0.160 |
11 |
36574244 |
missense variant |
C/T
|
snv
|
|
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
1 |
2008 |
2008 |
rs121918569
|
1.000 |
0.160 |
11 |
36575637 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
1 |
2008 |
2008 |
rs121918575
|
1.000 |
0.160 |
11 |
36592817 |
missense variant |
C/G
|
snv
|
3.6E-05
|
4.2E-05
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
1 |
2008 |
2008 |
rs104894291
|
0.882 |
0.160 |
11 |
36574491 |
missense variant |
G/A;T
|
snv
|
1.6E-05
|
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1998 |
2014 |
rs193922461
|
0.882 |
0.160 |
11 |
36574870 |
missense variant |
G/T
|
snv
|
1.1E-04
|
8.4E-05
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
2000 |
2015 |
rs199474686
|
0.882 |
0.160 |
11 |
36574725 |
missense variant |
G/A
|
snv
|
6.4E-05
|
7.0E-06
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2001 |
2009 |
rs121918572
|
0.851 |
0.160 |
11 |
36575630 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2007 |
2009 |
rs539590514
|
0.925 |
0.160 |
11 |
36576278 |
missense variant |
A/G
|
snv
|
4.0E-06
|
9.1E-05
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2001 |
2014 |
rs121918571
|
0.882 |
0.160 |
11 |
36574287 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2007 |
2014 |
rs754502950
|
0.851 |
0.200 |
11 |
36575652 |
stop gained |
C/G
|
snv
|
1.2E-05
|
2.8E-05
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2001 |
2014 |
rs104894286
|
0.925 |
0.160 |
11 |
36575514 |
missense variant |
G/A
|
snv
|
4.0E-05
|
2.1E-05
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs104894298
|
0.925 |
0.160 |
11 |
36574823 |
missense variant |
C/T
|
snv
|
|
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs121918570
|
1.000 |
0.160 |
11 |
36576227 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs141524540
|
0.851 |
0.200 |
11 |
36574607 |
missense variant |
A/G
|
snv
|
2.8E-05
|
2.8E-05
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs193922464
|
0.882 |
0.160 |
11 |
36573626 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
2.0E-05
|
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs773929270
|
0.851 |
0.200 |
11 |
36573728 |
stop gained |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|