TMC1, transmembrane channel like 1, 117531
N. diseases: 16; N. variants: 23
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 | 0.120 | 9 | 72648657 | frameshift variant | -/A | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 9 | 72694578 | stop gained | C/T | snv | 5.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 9 | 72694707 | frameshift variant | A/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 9 | 72694715 | splice donor variant | G/A;T | snv | 1.7E-05; 4.2E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 9 | 72788337 | splice acceptor variant | A/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 72789236 | stop gained | C/A;G;T | snv | 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 9 | 72789306 | frameshift variant | -/A | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 72791920 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 72792318 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 72792329 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 72816213 | splice region variant | A/G | snv | 6.1E-04 | 5.5E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1.000 | 0.120 | 9 | 72821017 | missense variant | T/C | snv | 2.4E-05 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 9 | 72821038 | missense variant | A/G | snv | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.800 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.120 | 9 | 72830640 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 |