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 | 0.160 | 7 | 21867059 | intron variant | C/T | snv | 0.32 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 21650988 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 21748743 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||||
|
7 | 21842641 | stop gained | C/T | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||||
|
7 | 21854418 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.160 | 7 | 21902051 | 3 prime UTR variant | A/C | snv | 0.34 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
7 | 21681585 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||||
|
7 | 21862024 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||||
|
1.000 | 0.160 | 7 | 21872858 | intron variant | G/A | snv | 0.31 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21880428 | intron variant | G/A | snv | 0.27 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21880547 | intron variant | C/T | snv | 0.27 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21886368 | intron variant | C/A | snv | 0.31 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21886360 | intron variant | G/C;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.160 | 7 | 21870954 | intron variant | A/G | snv | 0.32 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21885487 | intron variant | A/T | snv | 0.31 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21886238 | intron variant | A/T | snv | 0.48 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
Respiratory Tract Diseases | 0.700 | 0 |