| 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 | 0.120 | 5 | 168486503 | missense variant | A/C;G;T | snv | 4.2E-05 |
|
0.800 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
1.000 | 5 | 168516860 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 5 | 168486503 | missense variant | A/C;G;T | snv | 4.2E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
1.000 | 5 | 168518035 | frameshift variant | TA/- | del |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.120 | 5 | 168510601 | missense variant | C/T | snv | 3.8E-04 | 4.3E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 5 | 168486544 | splice donor variant | G/A;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 5 | 168488650 | frameshift variant | TG/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 5 | 168486499 | start lost | A/G | snv | 1.8E-05 | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 5 | 168486500 | start lost | T/A;C;G | snv | 6.0E-06; 1.2E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 5 | 168510601 | missense variant | C/T | snv | 3.8E-04 | 4.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.080 | 5 | 168486598 | intron variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 168486598 | intron variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 5 | 168486503 | missense variant | A/C;G;T | snv | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |