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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||||
|
0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 |
|
Eye Diseases; 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; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||
|
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 | |||||||
|
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 | |||||||||||
|
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 | |||||||||
|
0.925 | 0.160 | 16 | 75643129 | intron variant | A/G | snv | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.160 | 16 | 75643129 | intron variant | A/G | snv | 0.30 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 16 | 75640790 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |