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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 |
|
Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
4 | 38774559 | synonymous variant | C/A;T | snv | 0.25; 4.3E-06 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
4 | 38783103 | upstream gene variant | -/A | delins |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 38777282 | intron variant | G/A;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 38776582 | intron variant | A/G;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 38774508 | synonymous variant | T/C;G | snv | 1.1E-03; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 38774508 | synonymous variant | T/C;G | snv | 1.1E-03; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 38774508 | synonymous variant | T/C;G | snv | 1.1E-03; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 38774508 | synonymous variant | T/C;G | snv | 1.1E-03; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 4 | 38774477 | frameshift variant | GCAGTTGGAT/- | del |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 4 | 38774477 | frameshift variant | GCAGTTGGAT/- | del |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 4 | 38774173 | missense variant | A/G | snv | 2.7E-02; 4.0E-06 | 2.4E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.120 | 4 | 38774173 | missense variant | A/G | snv | 2.7E-02; 4.0E-06 | 2.4E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.120 | 4 | 38774173 | missense variant | A/G | snv | 2.7E-02; 4.0E-06 | 2.4E-02 |
|
Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.040 | 4 | 38775321 | synonymous variant | T/C | snv | 7.0E-03 | 2.9E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.040 | 4 | 38775321 | synonymous variant | T/C | snv | 7.0E-03 | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 4 | 38774614 | missense variant | A/G | snv | 6.4E-02 | 4.1E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.080 | 4 | 38774614 | missense variant | A/G | snv | 6.4E-02 | 4.1E-02 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.080 | 4 | 38774614 | missense variant | A/G | snv | 6.4E-02 | 4.1E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.120 | 4 | 38774699 | missense variant | C/T | snv | 6.5E-02 | 4.6E-02 |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.120 | 4 | 38774699 | missense variant | C/T | snv | 6.5E-02 | 4.6E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |