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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 65664716 | non coding transcript exon variant | A/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 11 | 65662465 | 5 prime UTR variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 11 | 65654980 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 11 | 65655757 | missense variant | T/C | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 11 | 65662465 | 5 prime UTR variant | T/C | snv | 0.52 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 11 | 65663889 | non coding transcript exon variant | C/T | snv | 0.17 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 11 | 65662465 | 5 prime UTR variant | T/C | snv | 0.52 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 11 | 65659875 | non coding transcript exon variant | G/A;C | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 11 | 65655120 | 3 prime UTR variant | C/G;T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 11 | 65661693 | missense variant | A/G | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 11 | 65655714 | missense variant | C/T | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.040 | 11 | 65655714 | missense variant | C/T | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.040 | 11 | 65655714 | missense variant | C/T | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.040 | 11 | 65655714 | missense variant | C/T | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.040 | 11 | 65655714 | missense variant | C/T | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.120 | 11 | 65661805 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.120 | 11 | 65661817 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.120 | 11 | 65655120 | 3 prime UTR variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Infections | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 11 | 65655120 | 3 prime UTR variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Infections | 0.010 | 1.000 | 1 | 2015 | 2015 |