CHD8, chromodomain helicase DNA binding protein 8, 57680
N. diseases: 12; N. variants: 20
Source: CURATED ×
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 14 | 21402335 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 12 | 2008 | 2017 | |||||||||
|
1.000 | 14 | 21402335 | splice donor variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 12 | 2008 | 2017 | |||||||||
|
1.000 | 14 | 21402335 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 12 | 2008 | 2017 | ||||||||||
|
1.000 | 14 | 21394188 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 12 | 2008 | 2017 | ||||||||||
|
1.000 | 14 | 21394188 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 12 | 2008 | 2017 | ||||||||||
|
1.000 | 14 | 21393500 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2012 | 2016 | ||||||||||
|
1.000 | 14 | 21393500 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2012 | 2016 | ||||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 4 | 2012 | 2016 | ||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
Mental Disorders | 0.700 | 1.000 | 4 | 2012 | 2016 | ||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2012 | 2016 | ||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||
|
14 | 21453066 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 21456066 | 5 prime UTR variant | G/A | snv | 1.3E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 14 | 21408756 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 21393692 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 21431297 | frameshift variant | G/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 21431297 | frameshift variant | G/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 21431459 | stop gained | G/A;C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 21400605 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 14 | 21400267 | frameshift variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 21402494 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 21408477 | frameshift variant | A/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 21403019 | stop gained | G/A | snv |
|
0.700 | 0 |