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 | 0.040 | 19 | 7639065 | frameshift variant | G/- | del |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 7639773 | frameshift variant | TG/- | del |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 7641770 | synonymous variant | C/T | snv | 7.5E-03 | 2.1E-03 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.080 | 19 | 7642058 | missense variant | G/T | snv | 8.0E-05 | 3.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.040 | 19 | 7642081 | missense variant | T/A;C | snv | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 2 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 19 | 7642509 | missense variant | G/A | snv | 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 19 | 7644719 | missense variant | C/T | snv | 1.6E-05 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 19 | 7644720 | missense variant | G/A;C | snv | 1.6E-05 |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 6 | 2009 | 2017 | |||||||
|
1.000 | 0.040 | 19 | 7645196 | splice acceptor variant | G/C | snv | 2.0E-04 | 2.3E-04 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 7 | 2009 | 2017 | ||||||
|
1.000 | 0.040 | 19 | 7645196 | splice acceptor variant | G/C | snv | 2.0E-04 | 2.3E-04 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 2009 | 2012 | ||||||
|
1.000 | 0.040 | 19 | 7646322 | missense variant | C/T | snv | 4.2E-06 | 1.4E-05 |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 19 | 7647391 | missense variant | A/G | snv | 0.63 | 0.67 |
|
Nervous System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 19 | 7647436 | missense variant | G/A;T | snv | 2.3E-04; 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2010 | 2013 |