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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 46327394 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.120 | 2 | 46314037 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 2 | 46306237 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 2 | 46387063 | downstream gene variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 46387063 | downstream gene variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 46387063 | downstream gene variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
2 | 46357720 | intron variant | A/G | snv | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 2 | 46331293 | intron variant | A/G | snv | 0.42 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 2 | 46331293 | intron variant | A/G | snv | 0.42 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.240 | 2 | 46360680 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.240 | 2 | 46329206 | intron variant | G/A | snv | 0.10 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.200 | 2 | 46349033 | intron variant | C/G;T | snv |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.240 | 2 | 46329206 | intron variant | G/A | snv | 0.10 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.200 | 2 | 46349033 | intron variant | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 2 | 46380281 | missense variant | G/A;T | snv |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 5 | 2008 | 2012 | ||||||||
|
1.000 | 0.040 | 2 | 46380275 | missense variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 5 | 2008 | 2012 | ||||||||
|
0.827 | 0.120 | 2 | 46348249 | intron variant | A/G | snv | 0.22 |
|
Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.925 | 0.040 | 2 | 46380281 | missense variant | G/A;T | snv |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 46387063 | downstream gene variant | G/A | snv | 0.34 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 2 | 46297441 | 5 prime UTR variant | C/T | snv | 1.9E-02 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.120 | 2 | 46297441 | 5 prime UTR variant | C/T | snv | 1.9E-02 |
|
Musculoskeletal Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.240 | 2 | 46360680 | missense variant | G/A | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
2 | 46376625 | missense variant | T/A | snv | 4.0E-03 | 4.5E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.120 | 2 | 46348249 | intron variant | A/G | snv | 0.22 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 2 | 46310465 | intron variant | A/G | snv | 0.52 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.830 | 1.000 | 5 | 2011 | 2019 |