HYDIN, HYDIN axonemal central pair apparatus protein, 54768
N. diseases: 61; N. variants: 7
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 16 | 71137272 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
16 | 70923707 | intron variant | G/A | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 70964242 | intron variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
16 | 71051768 | intron variant | T/C | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 16 | 70874437 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 70874437 | stop gained | C/A | snv |
|
Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 70874437 | stop gained | C/A | snv |
|
Respiratory Tract Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 70991397 | splice acceptor variant | C/A;T | snv | 1.6E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 16 | 70988133 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 16 | 70988133 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 71137272 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 71137272 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases | 0.700 | 0 |