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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||||
|
1.000 | 8 | 60781137 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||||
|
1.000 | 8 | 60828698 | frameshift variant | GAACACTGTGGAAGAAC/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 20 | 1999 | 2016 | |||||||||
|
1.000 | 8 | 60828698 | frameshift variant | GAACACTGTGGAAGAAC/- | del |
|
0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||||
|
1.000 | 8 | 60828698 | frameshift variant | GAACACTGTGGAAGAAC/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 20 | 1999 | 2016 | |||||||||
|
1.000 | 8 | 60828698 | frameshift variant | GAACACTGTGGAAGAAC/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 20 | 1999 | 2016 | |||||||||
|
0.882 | 0.080 | 8 | 60845063 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||
|
0.882 | 0.080 | 8 | 60845063 | missense variant | G/A | snv |
|
0.700 | 1.000 | 20 | 1999 | 2016 | |||||||||
|
1.000 | 8 | 60845311 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||||
|
8 | 60850514 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||||
|
8 | 60850623 | splice donor variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||||
|
8 | 60852866 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||||
|
8 | 60856559 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||||
|
0.925 | 0.080 | 8 | 60853017 | stop gained | C/T | snv |
|
0.700 | 1.000 | 20 | 1999 | 2016 | |||||||||
|
0.925 | 0.080 | 8 | 60853017 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 60830422 | missense variant | T/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 60830422 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||
|
1.000 | 8 | 60742366 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 20 | 1999 | 2016 | |||||||||
|
1.000 | 8 | 60742366 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 20 | 1999 | 2016 | |||||||||
|
1.000 | 8 | 60742366 | stop gained | C/T | snv |
|
0.700 | 1.000 | 20 | 1999 | 2016 | ||||||||||
|
0.925 | 0.080 | 8 | 60822627 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 19 | 2004 | 2015 | ||||||||
|
0.807 | 0.360 | 8 | 60855993 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.810 | 1.000 | 16 | 2004 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 60830569 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 15 | 2004 | 2015 | ||||||||
|
0.925 | 0.080 | 8 | 60853047 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 15 | 2004 | 2015 |