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 | 11 | 60993140 | intron variant | C/A;G | snv |
|
Immune System Diseases; Nervous System Diseases | 0.850 | 1.000 | 7 | 2009 | 2016 | ||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
Digestive System Diseases | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2016 | 2018 | |||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
11 | 61019002 | non coding transcript exon variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 11 | 61008833 | frameshift variant | -/T | ins | 5.1E-06; 5.1E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.120 | 11 | 60988884 | intron variant | G/A;T | snv |
|
Eye Diseases; Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 11 | 61009601 | missense variant | G/A | snv | 0.13 | 0.14 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.080 | 11 | 61008834 | missense variant | C/T | snv | 0.53 | 0.58 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.080 | 11 | 61008834 | missense variant | CG/TC | mnv |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |