CPLANE1, ciliogenesis and planar polarity effector 1, 65250
N. diseases: 120; N. variants: 86
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 5 | 37198797 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 5 | 2011 | 2017 | ||||||
|
1.000 | 5 | 37187488 | missense variant | G/A | snv | 1.6E-05; 4.0E-06 | 2.1E-05 |
|
0.800 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 37201718 | stop gained | G/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||||
|
1.000 | 0.080 | 5 | 37187460 | missense variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||||
|
1.000 | 0.080 | 5 | 37187795 | missense variant | C/G | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 5 | 37245569 | stop gained | C/A | snv |
|
0.700 | 1.000 | 6 | 2011 | 2015 | ||||||||||
|
1.000 | 5 | 37245569 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 6 | 2011 | 2015 | |||||||||
|
1.000 | 5 | 37245569 | stop gained | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 6 | 2011 | 2015 | |||||||||
|
0.925 | 0.080 | 5 | 37244452 | frameshift variant | T/- | del | 7.0E-05 |
|
0.700 | 1.000 | 5 | 2014 | 2018 | ||||||||
|
0.925 | 0.080 | 5 | 37198797 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 4 | 2013 | 2017 | |||||||
|
0.925 | 0.080 | 5 | 37244452 | frameshift variant | T/- | del | 7.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 4 | 2014 | 2017 | |||||||
|
0.925 | 0.080 | 5 | 37198775 | missense variant | G/A;T | snv | 1.6E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2014 | 2015 | |||||||
|
0.925 | 0.080 | 5 | 37165595 | stop gained | G/A | snv | 5.7E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.882 | 0.080 | 5 | 37157810 | stop gained | A/T | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||
|
0.882 | 0.080 | 5 | 37157810 | stop gained | A/T | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.925 | 0.080 | 5 | 37244373 | splice donor variant | A/T | snv | 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 5 | 37244373 | splice donor variant | A/T | snv | 1.3E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 5 | 37198775 | missense variant | G/A;T | snv | 1.6E-05; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 37243012 | splice donor variant | C/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 5 | 37243012 | splice donor variant | C/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 5 | 37125330 | stop gained | G/A | snv | 3.2E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 5 | 37187826 | synonymous variant | A/G | snv | 6.5E-04 | 8.5E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 5 | 37153973 | stop gained | G/A | snv | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |