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 III
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1057519503
|
1.000 |
0.080 |
7 |
74789339 |
3 prime UTR variant |
G/A
|
snv
|
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs4029402
|
1.000 |
0.120 |
7 |
74777267 |
frameshift variant |
GT/-
|
delins
|
|
|
Chronic granulomatous disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs201802880
|
0.882 |
0.200 |
7 |
74779296 |
missense variant |
G/A
|
snv
|
1.1E-03
|
|
Lupus Erythematosus, Systemic
|
Skin and Connective Tissue Diseases; Immune System Diseases
|
0.040 |
1.000 |
4 |
2017 |
2020 |
rs145360423
|
0.925 |
0.120 |
7 |
74783529 |
stop gained |
G/A
|
snv
|
6.9E-04
|
5.3E-04
|
Chronic granulomatous disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.030 |
1.000 |
3 |
2018 |
2018 |
rs1489201208
|
|
|
7 |
74785283 |
missense variant |
G/A
|
snv
|
|
|
Chronic granulomatous disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs201802880
|
0.882 |
0.200 |
7 |
74779296 |
missense variant |
G/A
|
snv
|
1.1E-03
|
|
Autoimmune Diseases
|
Immune System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs201802880
|
0.882 |
0.200 |
7 |
74779296 |
missense variant |
G/A
|
snv
|
1.1E-03
|
|
Rheumatoid Arthritis
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs201802880
|
0.882 |
0.200 |
7 |
74779296 |
missense variant |
G/A
|
snv
|
1.1E-03
|
|
Primary Sjögren's syndrome
|
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |