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 | 0.080 | 20 | 3682004 | start lost | T/C | snv | 7.0E-06 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 20 | 3671756 | missense variant | T/C | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.040 | 20 | 3679562 | missense variant | G/A;T | snv | 3.4E-05 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 20 | 3677086 | missense variant | G/C | snv | 4.0E-06 | 2.1E-05 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.080 | 20 | 3669480 | non coding transcript exon variant | G/A | snv | 0.13 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 20 | 3669480 | non coding transcript exon variant | G/A | snv | 0.13 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 20 | 3669558 | missense variant | G/A | snv | 0.13 | 0.14 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.882 | 0.120 | 20 | 3669558 | missense variant | G/A | snv | 0.13 | 0.14 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.120 | 20 | 3669558 | missense variant | G/A | snv | 0.13 | 0.14 |
|
Infections; Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.080 | 20 | 3669587 | missense variant | A/G | snv | 0.13 | 0.14 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.080 | 20 | 3669587 | missense variant | A/G | snv | 0.13 | 0.14 |
|
Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.160 | 20 | 3668514 | 3 prime UTR variant | C/G | snv | 0.71 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.160 | 20 | 3668514 | 3 prime UTR variant | C/G | snv | 0.71 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.160 | 20 | 3668514 | 3 prime UTR variant | C/G | snv | 0.71 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.200 | 20 | 3670825 | intron variant | T/A | snv | 0.41 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.200 | 20 | 3670825 | intron variant | T/A | snv | 0.41 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.200 | 20 | 3670825 | intron variant | T/A | snv | 0.41 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.200 | 20 | 3670825 | intron variant | T/A | snv | 0.41 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.200 | 20 | 3670825 | intron variant | T/A | snv | 0.41 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.120 | 20 | 3671118 | missense variant | C/T | snv | 5.1E-05; 7.6E-02 | 6.7E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.120 | 20 | 3671118 | missense variant | C/T | snv | 5.1E-05; 7.6E-02 | 6.7E-02 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.120 | 20 | 3671118 | missense variant | C/T | snv | 5.1E-05; 7.6E-02 | 6.7E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.120 | 20 | 3671118 | missense variant | C/T | snv | 5.1E-05; 7.6E-02 | 6.7E-02 |
|
Infections; Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.120 | 20 | 3671118 | missense variant | C/T | snv | 5.1E-05; 7.6E-02 | 6.7E-02 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.080 | 20 | 3673835 | missense variant | G/A | snv | 3.5E-05 | 6.3E-05 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |