rs28941476
|
1.000 |
0.120 |
16 |
88648103 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
11 |
1990 |
2013 |
rs104894510
|
1.000 |
0.120 |
16 |
88646761 |
missense variant |
T/C
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
10 |
1990 |
2013 |
rs104894513
|
1.000 |
0.120 |
16 |
88646773 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
10 |
1990 |
2013 |
rs104894514
|
1.000 |
0.120 |
16 |
88646131 |
missense variant |
G/A;T
|
snv
|
1.9E-05;
4.3E-05
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
10 |
1990 |
2013 |
rs104894515
|
1.000 |
0.120 |
16 |
88643474 |
missense variant |
G/T
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
10 |
1990 |
2013 |
rs179363892
|
1.000 |
0.120 |
16 |
88646774 |
missense variant |
G/A;C
|
snv
|
4.0E-05;
1.2E-05
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
10 |
1990 |
2013 |
rs179363890
|
1.000 |
0.120 |
16 |
88647149 |
missense variant |
A/G
|
snv
|
4.1E-06
|
7.0E-06
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
10 |
1990 |
2013 |
rs179363891
|
1.000 |
0.120 |
16 |
88648099 |
missense variant |
C/A;T
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
10 |
1990 |
2013 |
rs179363893
|
1.000 |
0.120 |
16 |
88647146 |
missense variant |
T/A;C
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
10 |
1990 |
2013 |
rs179363894
|
1.000 |
0.120 |
16 |
88643570 |
missense variant |
G/A
|
snv
|
7.7E-06
|
2.8E-05
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
10 |
1990 |
2013 |
rs104894511
|
1.000 |
0.120 |
16 |
88651007 |
stop gained |
G/A
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs119103269
|
1.000 |
0.120 |
16 |
88643568 |
missense variant |
C/A;T
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1439134665
|
1.000 |
0.120 |
16 |
88646796 |
frameshift variant |
G/-
|
delins
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567608853
|
0.925 |
0.160 |
16 |
88646212 |
non coding transcript exon variant |
G/C
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567609091
|
1.000 |
0.120 |
16 |
88646754 |
splice donor variant |
C/T
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|