| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 56698623 | upstream gene variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
6 | 25842723 | intron variant | T/G | snv | 4.0E-02 |
|
0.800 | 1.000 | 4 | 2009 | 2017 | ||||||||||
|
1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 |
|
0.800 | 1.000 | 4 | 2009 | 2013 | ||||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 3 | 2009 | 2017 | ||||||||||
|
6 | 139517282 | intron variant | C/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||||
|
6 | 135097778 | intron variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||||
|
6 | 41957421 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2009 | 2018 | |||||||||||
|
9 | 4856877 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
19 | 12890733 | upstream gene variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
16 | 259156 | intron variant | C/A | snv | 0.19 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
3 | 196082268 | upstream gene variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
22 | 37071352 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.800 | 1.000 | 6 | 2010 | 2018 | ||||||||
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
1 | 198626376 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2010 | 2017 | |||||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 46002468 | intron variant | C/T | snv | 9.5E-02 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
6 | 109313625 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 25821542 | intron variant | C/T | snv | 6.1E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||||
|
9 | 4844265 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
10 | 45459616 | intron variant | C/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
16 | 175654 | upstream gene variant | A/C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2012 | |||||||||||
|
22 | 50528485 | non coding transcript exon variant | T/C;G | snv | 0.61; 8.2E-06 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |