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 | 19 | 55032292 | missense variant | G/A | snv | 1.2E-03 | 1.2E-03 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
1.000 | 19 | 55027664 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | |||||||||
|
19 | 55027612 | synonymous variant | T/C;G | snv | 0.87; 4.0E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 55032835 | 5 prime UTR variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 19 | 55014991 | missense variant | A/G;T | snv | 3.7E-05; 2.0E-05; 0.80; 4.4E-04 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||||
|
0.925 | 0.120 | 19 | 55030031 | intron variant | A/G | snv | 0.32 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 19 | 55030031 | intron variant | A/G | snv | 0.32 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.120 | 19 | 55018667 | missense variant | C/G;T | snv | 4.0E-06; 0.81 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 19 | 55018667 | missense variant | C/G;T | snv | 4.0E-06; 0.81 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 19 | 55015821 | intron variant | G/T | snv | 0.74 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 19 | 55015821 | intron variant | G/T | snv | 0.74 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 19 | 55015713 | missense variant | C/T | snv | 0.80 | 0.74 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.120 | 19 | 55015713 | missense variant | C/T | snv | 0.80 | 0.74 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.160 | 19 | 55014977 | missense variant | T/G | snv | 0.85 | 0.81 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.160 | 19 | 55014977 | missense variant | T/G | snv | 0.85 | 0.81 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.160 | 19 | 55014977 | missense variant | T/G | snv | 0.85 | 0.81 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.160 | 19 | 55014977 | missense variant | T/G | snv | 0.85 | 0.81 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |