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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 638144 | regulatory region variant | G/T | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
2 | 647760 | intergenic variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 647861 | intergenic variant | T/C | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
18 | 60155007 | intron variant | T/A;C;G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
18 | 60146416 | intron variant | G/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.925 | 0.160 | 16 | 53735765 | intron variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.200 | 2 | 634905 | TF binding site variant | T/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
2 | 651507 | intergenic variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 648198 | intergenic variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 646803 | intergenic variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 652542 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 643303 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 652247 | regulatory region variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
1.000 | 0.080 | 3 | 186116501 | intron variant | T/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 11 | 27645655 | intron variant | T/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
16 | 28894763 | intron variant | G/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 |
|
0.700 | 1.000 | 5 | 2010 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 4 | 2010 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 74525960 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.882 | 0.120 | 15 | 67794500 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
19 | 47065746 | 3 prime UTR variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
0.925 | 0.120 | 6 | 50835337 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
14 | 79470621 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.882 | 0.120 | 9 | 28414341 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2010 | 2013 |