WAC, WW domain containing adaptor with coiled-coil, 51322
N. diseases: 68; N. variants: 14
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 10 | 28590718 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 28590718 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 28611923 | splice donor variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 28616363 | splice donor variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 10 | 28617762 | stop gained | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 28535742 | frameshift variant | AGAG/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 28616337 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 28535748 | frameshift variant | -/GG | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 10 | 28583498 | stop gained | C/A | snv |
|
0.700 | 0 |