rs119103270
|
1.000 |
0.120 |
7 |
74777319 |
missense variant |
G/A
|
snv
|
1.6E-05
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs119103271
|
1.000 |
0.120 |
7 |
74779298 |
stop gained |
C/G;T
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs119103272
|
1.000 |
0.120 |
7 |
74779360 |
stop gained |
T/A
|
snv
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs119103273
|
1.000 |
0.120 |
7 |
74783061 |
missense variant |
G/A
|
snv
|
3.2E-05
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1307080411
|
1.000 |
0.120 |
7 |
74787994 |
frameshift variant |
G/-
|
del
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs145360423
|
0.925 |
0.120 |
7 |
74783529 |
stop gained |
G/A
|
snv
|
6.9E-04
|
5.3E-04
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1563003964
|
1.000 |
0.120 |
7 |
74782989 |
frameshift variant |
G/-
|
del
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs4029402
|
1.000 |
0.120 |
7 |
74777267 |
frameshift variant |
GT/-
|
delins
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|