rs79833450
|
1.000 |
0.160 |
9 |
34513165 |
missense variant |
G/A
|
snv
|
2.0E-05
|
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
|
0.800 |
1.000 |
1 |
2001 |
2001 |
rs200669099
|
1.000 |
0.160 |
9 |
34514468 |
stop gained |
G/A
|
snv
|
3.6E-05
|
5.6E-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 |
2 |
2006 |
2011 |
rs397515363
|
1.000 |
0.160 |
9 |
34459054 |
splice donor variant |
-/T
|
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 |
2 |
1999 |
2013 |
rs397515563
|
1.000 |
0.160 |
9 |
34517468 |
splice donor variant |
G/A
|
snv
|
4.0E-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 |
2006 |
2006 |
rs200488444
|
1.000 |
0.160 |
9 |
34490011 |
splice acceptor variant |
G/C
|
snv
|
4.1E-04
|
4.5E-04
|
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 |
|
0 |
|
|
rs202213517
|
1.000 |
0.160 |
9 |
34497160 |
missense variant |
C/T
|
snv
|
1.8E-03
|
4.5E-04
|
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 |
|
0 |
|
|
rs376252276
|
1.000 |
0.160 |
9 |
34513112 |
missense variant |
G/A;C;T
|
snv
|
7.6E-05;
4.0E-06;
4.0E-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 |
|
0 |
|
|
rs606231164
|
1.000 |
0.160 |
9 |
34489343 |
frameshift variant |
-/AATA
|
ins
|
|
|
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 |
|
0 |
|
|
rs606231165
|
1.000 |
0.160 |
9 |
34514480 |
inframe deletion |
CCAAGGTCTTCA/-
|
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 |
|
0 |
|
|