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 | 0.080 | 1 | 64833868 | 3 prime UTR variant | -/TTAA;TTAATTAA | delins |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 64897943 | intron variant | A/C | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||||
|
1.000 | 0.080 | 1 | 64847130 | intron variant | A/G | snv | 0.22 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 1 | 64877383 | intron variant | A/G | snv | 0.16 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 64884439 | intron variant | A/G | snv | 0.43 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 64883925 | intron variant | A/G | snv | 0.37 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.360 | 1 | 64837655 | intron variant | A/G | snv | 0.37 |
|
Eye Diseases; Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.360 | 1 | 64837655 | intron variant | A/G | snv | 0.37 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.360 | 1 | 64837655 | intron variant | A/G | snv | 0.37 |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.200 | 1 | 64873549 | 3 prime UTR variant | A/G | snv | 1.0E-02 | 3.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.200 | 1 | 64873549 | 3 prime UTR variant | A/G | snv | 1.0E-02 | 3.6E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.200 | 1 | 64873549 | 3 prime UTR variant | A/G | snv | 1.0E-02 | 3.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 65049850 | intron variant | A/G | snv | 5.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 65049850 | intron variant | A/G | snv | 5.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 65006640 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 65066068 | intron variant | A/G | snv | 0.38 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 1 | 64883861 | intron variant | A/G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 64833108 | 3 prime UTR variant | A/T | snv | 0.52 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 1 | 64895266 | intron variant | A/T | snv | 0.15 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 1 | 64895266 | intron variant | A/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 1 | 64895266 | intron variant | A/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 1 | 64895266 | intron variant | A/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2009 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 64848529 | intron variant | C/A | snv | 7.3E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2019 |