| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 133274306 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
0.925 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1 | 169511883 | downstream gene variant | T/A | snv | 0.91 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169511938 | downstream gene variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1 | 169531352 | intron variant | C/A | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
9 | 133266804 | intron variant | G/T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1.000 | 0.080 | 9 | 133278860 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.851 | 0.160 | 9 | 133278431 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
1 | 169508336 | downstream gene variant | A/C | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169491488 | non coding transcript exon variant | A/G | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
9 | 133271249 | intron variant | A/T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||||
|
1 | 169382306 | intron variant | A/C;G | snv | 5.9E-03; 6.2E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
4 | 186266415 | intron variant | G/A | snv | 0.34 |
|
0.710 | 1.000 | 2 | 2010 | 2012 | ||||||||||
|
1 | 169510736 | downstream gene variant | C/T | snv | 0.95 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
4 | 186304150 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
4 | 186301446 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
4 | 186305519 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
5 | 175547573 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
8 | 51844533 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 171724227 | downstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
4 | 186297569 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
17 | 5819886 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |