rs113170157
|
|
|
14 |
49635935 |
upstream gene variant |
G/C
|
snv
|
|
0.45
|
Blood Protein Measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs137853191
|
1.000 |
0.160 |
14 |
49635127 |
stop gained |
G/A;C;T
|
snv
|
3.7E-05;
6.1E-06
|
|
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs397515341
|
0.925 |
0.160 |
14 |
49633935 |
frameshift variant |
-/CCACGCAGGTATCGTG
|
delins
|
7.8E-06;
7.8E-06
|
2.8E-05
|
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs727504815
|
|
|
14 |
49634423 |
stop gained |
C/A;T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs777108430
|
|
|
14 |
49634315 |
frameshift variant |
CGGGGCT/-;CGGGGCTCGGGGCT
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs797045146
|
1.000 |
0.160 |
14 |
49635119 |
frameshift variant |
C/-
|
delins
|
|
|
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs139416233
|
|
|
14 |
49633565 |
stop gained |
G/A;C
|
snv
|
1.6E-05;
1.2E-05
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555327917
|
|
|
14 |
49633595 |
frameshift variant |
C/-
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555327928
|
|
|
14 |
49633716 |
frameshift variant |
-/C
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555328022
|
|
|
14 |
49634346 |
stop gained |
G/C
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555328047
|
|
|
14 |
49634448 |
frameshift variant |
GGGGCTG/-
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555328087
|
|
|
14 |
49634666 |
stop gained |
G/A
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555328130
|
|
|
14 |
49634917 |
frameshift variant |
-/ACATGGC
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs397515341
|
0.925 |
0.160 |
14 |
49633935 |
frameshift variant |
-/CCACGCAGGTATCGTG
|
delins
|
7.8E-06;
7.8E-06
|
2.8E-05
|
CILIARY DYSKINESIA, PRIMARY, 10
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs752795172
|
|
|
14 |
49634762 |
stop gained |
C/A;T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs902156961
|
|
|
14 |
49633990 |
frameshift variant |
-/CCCC
|
delins
|
1.7E-05;
8.5E-06
|
8.4E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|