| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 19 | 4117543 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 1219352 | missense variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 1999 | 2019 | |||||||||
|
1.000 | 0.040 | 17 | 64390632 | missense variant | A/T | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2003 | 2010 | ||||||||
|
1.000 | 0.120 | 9 | 111594264 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1.000 | 2 | 208243469 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 161194005 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 15 | 90881744 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 153561551 | missense variant | C/T | snv | 7.1E-02 | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 11 | 112086921 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 1 | 20618562 | synonymous variant | C/T | snv | 0.31 | 0.34 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 4 | 141732931 | 3 prime UTR variant | C/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 41932887 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 4 | 54726020 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 7 | 140781593 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 2 | 29222404 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 14 | 104776711 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 7 | 55163737 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 3 | 41224631 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2014 | |||||||||
|
1.000 | 0.080 | 3 | 186856394 | 3 prime UTR variant | T/C | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 18 | 63655761 | missense variant | T/C;G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 53437445 | intron variant | T/G | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 16 | 53470809 | synonymous variant | T/C | snv | 0.44 | 0.55 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 11 | 64808031 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 |