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 | 4 | 144658851 | missense variant | G/C | snv | 1.1E-03 | 3.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.080 | 4 | 144659723 | missense variant | C/T | snv | 8.5E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
4 | 144653692 | intron variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 4 | 2008 | 2019 | ||||||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2018 | |||||||
|
0.851 | 0.080 | 4 | 144647200 | non coding transcript exon variant | T/C | snv | 0.79 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
4 | 144653692 | intron variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 2 | 2008 | 2010 | ||||||||||
|
4 | 144644674 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
0.851 | 0.080 | 4 | 144647200 | non coding transcript exon variant | T/C | snv | 0.79 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 144645712 | non coding transcript exon variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
4 | 144645696 | intron variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 4 | 144658851 | missense variant | G/C | snv | 1.1E-03 | 3.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.080 | 4 | 144653087 | intron variant | G/T | snv | 0.27 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |