| 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 | 0.080 | 4 | 141732931 | 3 prime UTR variant | C/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 100996153 | 3 prime UTR variant | T/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 41932887 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.160 | 9 | 117715764 | 3 prime UTR variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 17 | 7674239 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.763 | 0.320 | 7 | 75985688 | missense variant | C/T | snv | 0.31 | 0.27 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.120 | 5 | 40955459 | missense variant | G/C | snv | 0.58 | 0.52 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
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 | 4 | 82629966 | 3 prime UTR variant | T/C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 5 | 149732603 | intron variant | A/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 112089809 | intron variant | T/C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 2 | 6708412 | intergenic variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 9 | 97700127 | non coding transcript exon variant | T/C | snv | 3.2E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 35231586 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 10 | 125773956 | missense variant | A/G | snv | 0.76 | 0.78 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.200 | 2 | 203937045 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.200 | 10 | 52771774 | upstream gene variant | G/A | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |