| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 3 | 41883906 | missense variant | C/G;T | snv | 0.80 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | |||||||
|
0.925 | 0.160 | 6 | 31139481 | intron variant | T/C | snv | 0.72 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.925 | 0.160 | 17 | 16945825 | intron variant | A/G | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.882 | 0.200 | 7 | 21898622 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2014 | |||||||||
|
1.000 | 0.160 | 2 | 25436375 | intron variant | A/C;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2014 | |||||||||
|
1.000 | 0.160 | 22 | 39146287 | intron variant | G/A | snv | 0.43 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 0.160 | 16 | 15880785 | intron variant | A/T | snv | 8.1E-02 |
|
0.710 | 1.000 | 1 | 2015 | 2018 | ||||||||
|
1.000 | 0.160 | 16 | 30714927 | intron variant | C/T | snv | 0.32 |
|
0.710 | 1.000 | 1 | 2016 | 2017 | ||||||||
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.710 | 1.000 | 1 | 2013 | 2017 | |||||||
|
1.000 | 0.160 | 3 | 3149742 | non coding transcript exon variant | T/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 6 | 30897052 | synonymous variant | T/C | snv | 0.47 | 0.43 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.160 | 6 | 30899750 | 3 prime UTR variant | G/A | snv | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 7 | 140753355 | missense variant | CA/TC | mnv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.160 | 12 | 6789226 | intron variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.240 | 14 | 102799329 | intron variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.280 | 8 | 38419696 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.160 | 6 | 151208234 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 12 | 9984989 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.160 | 2 | 201185809 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |