| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
7 | 143268092 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 2 | 202565733 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.200 | 11 | 112086940 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.280 | 7 | 116560326 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 118951604 | intron variant | G/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
8 | 127395871 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 14 | 103137233 | 3 prime UTR variant | G/A;C;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 14 | 103137316 | 3 prime UTR variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 14 | 45073835 | 3 prime UTR variant | T/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
20 | 46016407 | 3 prime UTR variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 7 | 47965365 | synonymous variant | C/T | snv | 0.49 | 0.46 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |