rs200669099
|
1.000 |
0.160 |
9 |
34514468 |
stop gained |
G/A
|
snv
|
3.6E-05
|
5.6E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2011 |
rs772686744
|
|
|
9 |
34514527 |
missense variant |
G/C
|
snv
|
1.6E-05
|
2.8E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2001 |
2008 |
rs79833450
|
1.000 |
0.160 |
9 |
34513165 |
missense variant |
G/A
|
snv
|
2.0E-05
|
2.8E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2001 |
2010 |
rs200488444
|
1.000 |
0.160 |
9 |
34490011 |
splice acceptor variant |
G/C
|
snv
|
4.1E-04
|
4.5E-04
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs376252276
|
1.000 |
0.160 |
9 |
34513112 |
missense variant |
G/A;C;T
|
snv
|
7.6E-05;
4.0E-06;
4.0E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs397515563
|
1.000 |
0.160 |
9 |
34517468 |
splice donor variant |
G/A
|
snv
|
4.0E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs116938457
|
|
|
9 |
34489431 |
missense variant |
C/G;T
|
snv
|
4.1E-04
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1465404366
|
|
|
9 |
34513192 |
splice donor variant |
G/T
|
snv
|
|
7.0E-06
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs368248592
|
1.000 |
0.120 |
9 |
34514436 |
missense variant |
G/A;T
|
snv
|
7.6E-05;
2.0E-05
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs769224534
|
|
|
9 |
34491498 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
1.6E-05;
2.0E-05
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs769284314
|
|
|
9 |
34506870 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs878854968
|
|
|
9 |
34500732 |
stop gained |
C/G
|
snv
|
4.0E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs397515363
|
1.000 |
0.160 |
9 |
34459054 |
splice donor variant |
-/T
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
1999 |
2018 |
rs876657683
|
|
|
9 |
34489394 |
frameshift variant |
C/-
|
delins
|
|
1.4E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1060503515
|
|
|
9 |
34506748 |
frameshift variant |
C/-
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060503495
|
|
|
9 |
34485216 |
frameshift variant |
T/-
|
del
|
4.0E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs751920647
|
|
|
9 |
34513152 |
frameshift variant |
C/-
|
del
|
4.0E-06
|
1.4E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|