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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 123117450 | intron variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 5 | 123142307 | intron variant | -/TTCAC | delins | 0.72 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 5 | 123118610 | intron variant | A/G | snv | 0.56 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
5 | 123134514 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 123099932 | missense variant | G/A;T | snv | 0.17 | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
5 | 123090099 | missense variant | C/T | snv | 1.4E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
5 | 123140763 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||||
|
5 | 123140763 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.040 | 5 | 123098971 | intron variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 5 | 123146549 | intron variant | A/C;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 5 | 123146549 | intron variant | A/C;G;T | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
5 | 123121430 | intron variant | A/G;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 5 | 123170997 | missense variant | A/G | snv | 6.4E-06 |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 5 | 123180296 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 5 | 123099849 | missense variant | G/C | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 |