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 | 16 | 75636503 | missense variant | A/G | snv | 2.8E-05 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
0.882 | 0.080 | 16 | 75647605 | missense variant | T/A;C | snv | 1.6E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 16 | 75647605 | missense variant | T/A;C | snv | 1.6E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 16 | 75647605 | missense variant | T/A;C | snv | 1.6E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 16 | 75647605 | missense variant | T/A;C | snv | 1.6E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 16 | 75640258 | missense variant | A/T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.040 | 16 | 75630480 | missense variant | C/T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 16 | 75630493 | frameshift variant | G/-;GG | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 75630493 | frameshift variant | G/-;GG | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 75630493 | frameshift variant | G/-;GG | delins |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 75630493 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 16 | 75630493 | frameshift variant | G/-;GG | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 16 | 75636504 | frameshift variant | -/AA | delins |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.200 | 16 | 75635688 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.200 | 16 | 75635688 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||
|
0.882 | 0.200 | 16 | 75635688 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.200 | 16 | 75635688 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.200 | 16 | 75635688 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 16 | 75631726 | missense variant | C/T | snv | 1.4E-05 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
1.000 | 0.120 | 16 | 75648280 | missense variant | G/A | snv | 7.9E-05 | 4.2E-05 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 |