| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 3 | 52394972 | synonymous variant | C/A | snv | 8.3E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 3 | 52396510 | missense variant | G/A | snv | 0.19 | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 3 | 120421014 | intron variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 2 | 46332637 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 21 | 31266532 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.827 | 0.160 | 8 | 109578004 | missense variant | A/G | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.120 | 19 | 38287929 | missense variant | C/T | snv | 1.6E-03 | 1.9E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.120 | 9 | 79515946 | non coding transcript exon variant | T/C | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 3 | 69936725 | start lost | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 3 | 148697390 | upstream gene variant | T/C | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 2 | 112782628 | intron variant | G/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.240 | 4 | 106924637 | missense variant | C/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |