rs281875178
|
1.000 |
0.120 |
11 |
57614568 |
missense variant |
A/G
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
16 |
1988 |
2014 |
rs28940870
|
0.882 |
0.160 |
11 |
57614474 |
missense variant |
C/A;T
|
snv
|
|
|
Angioedemas, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.030 |
1.000 |
3 |
1990 |
2015 |
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 |
rs1057520366
|
1.000 |
0.120 |
11 |
57606195 |
missense variant |
A/C
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
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 |
rs1554995860
|
1.000 |
0.120 |
11 |
57606471 |
stop gained |
C/G
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554996833
|
1.000 |
0.120 |
11 |
57614428 |
frameshift variant |
GA/-
|
delins
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565168898
|
1.000 |
0.120 |
11 |
57598271 |
start lost |
A/C;G
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565170287
|
1.000 |
0.120 |
11 |
57602069 |
frameshift variant |
ATCC/-
|
delins
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565170364
|
1.000 |
0.120 |
11 |
57602158 |
stop gained |
TC/AA
|
mnv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565171906
|
1.000 |
0.120 |
11 |
57606530 |
stop gained |
C/T
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565173309
|
1.000 |
0.120 |
11 |
57611793 |
frameshift variant |
A/-
|
del
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565174105
|
1.000 |
0.120 |
11 |
57614498 |
stop gained |
C/T
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs922149386
|
1.000 |
0.120 |
11 |
57614558 |
stop gained |
C/T
|
snv
|
|
|
Hereditary Angioedema Type I
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
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 |
|
|