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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.950 | 4 | 2004 | 2020 | |||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.710 | 1.000 | 1 | 2005 | 2007 | |||||||
|
0.807 | 0.320 | 16 | 11086016 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 4 | 2007 | 2011 | ||||||||
|
0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 |
|
0.810 | 1.000 | 3 | 2007 | 2010 | ||||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.900 | 0.955 | 3 | 2007 | 2018 | |||||||
|
0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 |
|
0.830 | 1.000 | 3 | 2007 | 2019 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.810 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 |
|
0.830 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.860 | 0.800 | 2 | 2007 | 2019 | ||||||||
|
0.925 | 0.120 | 11 | 2191936 | regulatory region variant | C/T | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.790 | 0.320 | 6 | 32636595 | intron variant | G/A | snv | 0.54 |
|
0.810 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
0.810 | 1.000 | 1 | 2007 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 30364778 | upstream gene variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 6 | 32830954 | intron variant | C/G;T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
1.000 | 0.120 | 7 | 94402493 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.200 | 6 | 32867481 | regulatory region variant | T/G | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.200 | 6 | 31642909 | missense variant | A/G | snv | 0.51 | 0.44 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 6 | 32152938 | non coding transcript exon variant | T/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.240 | 6 | 31472305 | non coding transcript exon variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 6 | 31353908 | 3 prime UTR variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 6 | 31719231 | synonymous variant | G/A | snv | 0.27 | 0.31 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 11 | 2174751 | upstream gene variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 11 | 2172610 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 |