rs137852616
|
0.925 |
0.080 |
21 |
44900367 |
missense variant |
C/T
|
snv
|
4.0E-05
|
2.8E-05
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.800 |
1.000 |
14 |
1990 |
2010 |
rs137852609
|
0.925 |
0.080 |
21 |
44889376 |
missense variant |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.800 |
1.000 |
12 |
1990 |
2010 |
rs137852615
|
0.925 |
0.080 |
21 |
44903482 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.800 |
1.000 |
11 |
1990 |
2010 |
rs137852618
|
0.925 |
0.080 |
21 |
44900400 |
missense variant |
C/T
|
snv
|
1.6E-05
|
6.3E-05
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.800 |
1.000 |
11 |
1990 |
2010 |
rs179363873
|
1.000 |
0.080 |
21 |
44901518 |
missense variant |
C/T
|
snv
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.800 |
|
0 |
|
|
rs179363874
|
1.000 |
0.080 |
21 |
44899161 |
missense variant |
T/A
|
snv
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.710 |
1.000 |
1 |
2010 |
2010 |
rs137852610
|
0.925 |
0.080 |
21 |
44901646 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
1.000 |
11 |
1990 |
2010 |
rs137852611
|
0.925 |
0.080 |
21 |
44903418 |
missense variant |
A/G
|
snv
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
1.000 |
11 |
1990 |
2010 |
rs137852612
|
0.925 |
0.080 |
21 |
44901728 |
missense variant |
C/T
|
snv
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
1.000 |
11 |
1990 |
2010 |
rs137852613
|
0.925 |
0.080 |
21 |
44895002 |
missense variant |
T/C
|
snv
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
1.000 |
11 |
1990 |
2010 |
rs137852614
|
0.925 |
0.080 |
21 |
44901700 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.1E-05
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
1.000 |
11 |
1990 |
2010 |
rs137852617
|
0.925 |
0.080 |
21 |
44903452 |
missense variant |
A/G
|
snv
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
1.000 |
11 |
1990 |
2010 |
rs201752283
|
0.925 |
0.080 |
21 |
44900319 |
splice donor variant |
C/A;T
|
snv
|
2.0E-05
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
1.000 |
4 |
1992 |
2016 |
rs1568879914
|
1.000 |
0.080 |
21 |
44888813 |
frameshift variant |
-/GA
|
ins
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs179363872
|
1.000 |
0.080 |
21 |
44886836 |
missense variant |
C/G
|
snv
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs483352813
|
1.000 |
0.080 |
21 |
44901656 |
frameshift variant |
-/G
|
delins
|
4.0E-06
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs483352814
|
1.000 |
0.080 |
21 |
44901527 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs483352815
|
1.000 |
0.080 |
21 |
44900374 |
frameshift variant |
G/-
|
delins
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs483352816
|
1.000 |
0.080 |
21 |
44895024 |
stop gained |
C/A;T
|
snv
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs483352817
|
1.000 |
0.080 |
21 |
44893485 |
frameshift variant |
G/-
|
delins
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs483352818
|
1.000 |
0.080 |
21 |
44889274 |
splice donor variant |
A/G
|
snv
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs483352819
|
1.000 |
0.080 |
21 |
44888866 |
frameshift variant |
T/-
|
delins
|
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs5030672
|
1.000 |
0.080 |
21 |
44889397 |
missense variant |
G/A
|
snv
|
8.6E-03
|
8.3E-03
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs148877937
|
1.000 |
0.080 |
21 |
44901671 |
stop gained |
G/A
|
snv
|
3.6E-05
|
1.4E-05
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs745917556
|
1.000 |
0.080 |
21 |
44903464 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Leukocyte adhesion deficiency type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |