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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 22 | 28796682 | non coding transcript exon variant | T/C | snv | 0.44 |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 22 | 28796682 | non coding transcript exon variant | T/C | snv | 0.44 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 22 | 28796682 | non coding transcript exon variant | T/C | snv | 0.44 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 22 | 28800769 | non coding transcript exon variant | G/C | snv | 0.40 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 22 | 28800769 | non coding transcript exon variant | G/C | snv | 0.40 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.120 | 22 | 28800769 | non coding transcript exon variant | G/C | snv | 0.40 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.120 | 22 | 28800769 | non coding transcript exon variant | G/C | snv | 0.40 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 22 | 28795944 | intron variant | A/G | snv | 4.6E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.040 | 22 | 28795944 | intron variant | A/G | snv | 4.6E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.040 | 22 | 28795944 | intron variant | A/G | snv | 4.6E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 22 | 28797159 | missense variant | T/C | snv | 4.0E-05 | 9.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.120 | 22 | 28795623 | missense variant | C/A;G | snv | 8.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 22 | 28795623 | missense variant | C/A;G | snv | 8.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 22 | 28795637 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 |