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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 4 | 55088939 | missense variant | G/A;C | snv | 9.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 3 | 2002 | 2008 | |||||||
|
0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
4 | 55092041 | intron variant | T/C | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.160 | 4 | 55106779 | missense variant | A/G | snv | 2.3E-02 | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 4 | 55106779 | missense variant | A/G | snv | 2.3E-02 | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 55124971 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 55124971 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 55124971 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 55124971 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 55124971 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.882 | 0.160 | 4 | 55106779 | missense variant | A/G | snv | 2.3E-02 | 2.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||
|
0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 |
|
Cardiovascular Diseases | 0.040 | 1.000 | 4 | 2012 | 2017 | |||||||
|
0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2012 | 2019 | |||||||
|
1.000 | 0.080 | 4 | 55112043 | intron variant | C/T | snv | 0.24 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.925 | 0.080 | 4 | 55089065 | intron variant | T/A;C | snv |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||||
|
0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||||
|
0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 |
|
Eye Diseases | 0.020 | 0.500 | 2 | 2010 | 2013 | |||||||
|
0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||||
|
0.827 | 0.120 | 4 | 55125564 | 5 prime UTR variant | T/C | snv | 0.48 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||||
|
0.925 | 0.080 | 4 | 55116585 | intron variant | C/T | snv | 0.50 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 4 | 55116585 | intron variant | C/T | snv | 0.50 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |