CHD7, chromodomain helicase DNA binding protein 7, 55636
N. diseases: 419; N. variants: 247
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 60860726 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 8 | 60850497 | stop gained | T/C;G | snv | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60742984 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60822604 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60853016 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60844998 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60848514 | splice acceptor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60816455 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60794985 | splice acceptor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60823837 | splice region variant | T/C;G | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 8 | 60742489 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60852886 | frameshift variant | CT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60822638 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 60856592 | stop gained | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 60816501 | splice donor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 8 | 60828682 | missense variant | C/T | snv |
|
0.700 | 1.000 | 20 | 1999 | 2016 | |||||||||
|
0.882 | 0.080 | 8 | 60828682 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||
|
0.882 | 0.080 | 8 | 60828682 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 8 | 60828682 | missense variant | C/T | snv |
|
0.700 | 0 |