rs112565881
|
1.000 |
0.120 |
11 |
57611937 |
splice donor variant |
G/A;T
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121907947
|
0.925 |
0.160 |
11 |
57614450 |
missense variant |
G/A
|
snv
|
|
|
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121907948
|
0.882 |
0.160 |
11 |
57614475 |
missense variant |
G/A;C;T
|
snv
|
|
|
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121907949
|
0.925 |
0.160 |
11 |
57614439 |
missense variant |
T/A
|
snv
|
|
|
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121907950
|
0.925 |
0.120 |
11 |
57614472 |
missense variant |
C/T
|
snv
|
|
|
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR
|
|
0.700 |
|
0 |
|
|
rs121907951
|
1.000 |
0.120 |
11 |
57602081 |
stop gained |
C/G
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554995260
|
1.000 |
0.120 |
11 |
57602098 |
frameshift variant |
-/T
|
delins
|
|
|
Abdominal Pain
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs1554995260
|
1.000 |
0.120 |
11 |
57602098 |
frameshift variant |
-/T
|
delins
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554995260
|
1.000 |
0.120 |
11 |
57602098 |
frameshift variant |
-/T
|
delins
|
|
|
Angioedema
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554996817
|
1.000 |
0.120 |
11 |
57614338 |
frameshift variant |
T/-
|
delins
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554996819
|
1.000 |
0.120 |
11 |
57614345 |
stop gained |
-/A
|
delins
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1565169419
|
1.000 |
0.120 |
11 |
57599882 |
stop gained |
A/T
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1565169621
|
1.000 |
0.120 |
11 |
57600167 |
frameshift variant |
TACC/-
|
delins
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1565173405
|
1.000 |
0.120 |
11 |
57611934 |
stop gained |
T/A
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs200534715
|
1.000 |
0.120 |
11 |
57600179 |
missense variant |
A/G
|
snv
|
2.3E-04
|
3.1E-05
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs28940870
|
0.882 |
0.160 |
11 |
57614474 |
missense variant |
C/A;T
|
snv
|
|
|
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs606231141
|
1.000 |
0.160 |
11 |
57614435 |
protein altering variant |
-/TGT
|
ins
|
|
|
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs978962357
|
|
|
11 |
57614553 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Angioedema
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121907948
|
0.882 |
0.160 |
11 |
57614475 |
missense variant |
G/A;C;T
|
snv
|
|
|
Angioedemas, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.020 |
1.000 |
2 |
1992 |
2002 |
rs11603020
|
0.925 |
0.120 |
11 |
57606859 |
intron variant |
T/C
|
snv
|
|
0.21
|
Narcolepsy
|
Nervous System Diseases; Mental Disorders
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1005510
|
1.000 |
0.040 |
11 |
57599749 |
intron variant |
C/T
|
snv
|
|
0.39
|
Age related macular degeneration
|
Eye Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs11603020
|
0.925 |
0.120 |
11 |
57606859 |
intron variant |
T/C
|
snv
|
|
0.21
|
Age related macular degeneration
|
Eye Diseases
|
0.010 |
< 0.001 |
1 |
2010 |
2010 |
rs1326562515
|
1.000 |
0.120 |
11 |
57606105 |
missense variant |
C/T
|
snv
|
|
|
Rheumatoid Arthritis
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs28362941
|
0.925 |
0.080 |
11 |
57597964 |
5 prime UTR variant |
G/C
|
snv
|
|
1.2E-03
|
Malignant neoplasm of stomach
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs28362941
|
0.925 |
0.080 |
11 |
57597964 |
5 prime UTR variant |
G/C
|
snv
|
|
1.2E-03
|
Stomach Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2013 |
2013 |