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 | 0.040 | 16 | 2285499 | stop gained | C/T | snv | 1.4E-05 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 |
|
Respiratory Tract Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 16 | 2277878 | splice donor variant | C/T | snv |
|
Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 2319842 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
Respiratory Tract Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 2319842 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 2319842 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 16 | 2319633 | frameshift variant | TGTAG/- | delins | 7.0E-06 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 2299370 | intron variant | T/C | snv | 0.51 | 0.45 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.080 | 16 | 2287992 | intron variant | G/A;C | snv | 0.42; 4.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 |
|
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases | 0.700 | 1.000 | 16 | 2005 | 2014 | |||||||
|
0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 10 | 2005 | 2018 | |||||||
|
0.925 | 0.080 | 16 | 2317335 | synonymous variant | G/A | snv | 0.17 | 0.12 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2008 | 2016 | ||||||
|
0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2008 | 2012 | |||||||
|
0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 |
|
Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||||
|
1.000 | 0.120 | 16 | 2300001 | splice donor variant | GCACCTT/TGG | delins |
|
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases | 0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.882 | 0.080 | 16 | 2319591 | missense variant | C/T | snv | 5.7E-03 | 6.5E-03 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.080 | 16 | 2319591 | missense variant | C/T | snv | 5.7E-03 | 6.5E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 16 | 2319591 | missense variant | C/T | snv | 5.7E-03 | 6.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.080 | 16 | 2319591 | missense variant | C/T | snv | 5.7E-03 | 6.5E-03 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 16 | 2326027 | missense variant | A/G | snv |
|
Respiratory Tract Diseases | 0.800 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 16 | 2278348 | missense variant | A/G | snv |
|
Respiratory Tract Diseases | 0.800 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 16 | 2299442 | missense variant | T/C | snv |
|
Respiratory Tract Diseases | 0.800 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 16 | 2317335 | synonymous variant | G/A | snv | 0.17 | 0.12 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |