| 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 | 0.120 | 2 | 100056230 | intron variant | C/T | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.200 | 2 | 100142823 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 2 | 100143710 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 100190052 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.160 | 2 | 100190478 | intron variant | T/A | snv | 0.51 |
|
0.800 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
1.000 | 0.120 | 2 | 100208905 | intron variant | C/T | snv | 0.46 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 100215693 | intron variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 4 | 100505575 | intron variant | T/C | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 4 | 100512097 | intron variant | G/A | snv | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 7 | 101299780 | non coding transcript exon variant | G/A | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 15 | 101365954 | non coding transcript exon variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 8 | 101451374 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
1.000 | 0.120 | 8 | 101453833 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 |
|
0.020 | 0.500 | 2 | 2009 | 2017 | ||||||||
|
0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 |
|
0.030 | 1.000 | 3 | 2009 | 2017 | |||||||
|
0.925 | 0.160 | 14 | 102068203 | upstream gene variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.200 | 3 | 10222796 | missense variant | C/G | snv | 0.37 | 0.35 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 3 | 10234479 | missense variant | T/A | snv | 0.73 | 0.70 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.925 | 0.200 | 4 | 102567083 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | 11 | 102630934 | downstream gene variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
0.030 | 1.000 | 3 | 2001 | 2016 |