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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 11 | 102790228 | 3 prime UTR variant | A/G | snv | 0.15 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 11 | 102790228 | 3 prime UTR variant | A/G | snv | 0.15 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 11 | 102790228 | 3 prime UTR variant | A/G | snv | 0.15 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
11 | 102799093 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 102799093 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 102799093 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 11 | 102790349 | 3 prime UTR variant | G/A | snv | 0.19 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 11 | 102794539 | intron variant | T/C | snv | 0.77 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 11 | 102795585 | synonymous variant | T/C | snv | 0.92 | 0.95 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 102798581 | intron variant | A/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 11 | 102798914 | intron variant | A/C | snv | 0.40 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 11 | 102798914 | intron variant | A/C | snv | 0.40 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 11 | 102795478 | missense variant | T/C | snv | 1.9E-04 | 7.7E-04 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 11 | 102790143 | 3 prime UTR variant | G/A | snv | 0.29 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 11 | 102795237 | missense variant | T/A;C;G | snv | 1.6E-05; 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |