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 | 0.120 | 10 | 26024020 | splice acceptor variant | A/C;G | snv | 4.0E-06; 4.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 10 | 26096393 | missense variant | T/A | snv | 4.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 10 | 26096590 | stop gained | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 26096590 | stop gained | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 26096638 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 26096638 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 26120664 | intron variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
10 | 26125584 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 10 | 26153849 | splice acceptor variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 26153849 | splice acceptor variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 26168729 | stop gained | T/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 10 | 26173762 | frameshift variant | T/- | delins | 3.6E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 10 | 26194254 | intron variant | T/C | snv | 0.23 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 |