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 | 0.160 | 7 | 21880547 | intron variant | C/T | snv | 0.27 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21886368 | intron variant | C/A | snv | 0.31 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21886360 | intron variant | G/C;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.160 | 7 | 21870954 | intron variant | A/G | snv | 0.32 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21885487 | intron variant | A/T | snv | 0.31 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21886238 | intron variant | A/T | snv | 0.48 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21893355 | intron variant | A/T | snv | 0.44 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21891968 | intron variant | C/A;G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.160 | 7 | 21901821 | 3 prime UTR variant | A/G | snv | 0.20 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21877742 | intron variant | G/A | snv | 0.53 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21875372 | intron variant | C/A | snv | 0.27 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 21648307 | intron variant | G/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 21543299 | synonymous variant | C/T | snv | 0.10 | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.120 | 7 | 21544470 | intron variant | G/A | snv | 0.44 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.120 | 7 | 21544470 | intron variant | G/A | snv | 0.44 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.160 | 7 | 21899867 | intron variant | C/T | snv | 0.21 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 21683510 | intron variant | -/T | delins | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.160 | 7 | 21891644 | intron variant | T/C | snv | 0.20 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21884249 | intron variant | C/G | snv | 0.53 | 0.47 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.882 | 0.200 | 7 | 21898622 | intron variant | C/A;T | snv |
|
Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.160 | 7 | 21894306 | intron variant | C/T | snv | 0.43 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 21616294 | splice donor variant | C/A;T | snv | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 |