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 | 172377408 | intron variant | G/A | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||||
|
1 | 207851475 | intron variant | C/T | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1 | 219519878 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 219577375 | regulatory region variant | G/T | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1 | 118953038 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1 | 118961220 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2019 | |||||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 164672366 | intron variant | C/T | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 52472410 | intron variant | C/T | snv | 0.96 | 0.96 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
5 | 173935455 | intron variant | G/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | ||||||||||
|
1.000 | 0.040 | 6 | 6742916 | upstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
6 | 127016554 | intron variant | C/A;G;T | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 126846446 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
6 | 121837124 | intergenic variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 6738519 | intron variant | T/C | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
1.000 | 0.120 | 6 | 32396178 | synonymous variant | T/C | snv | 0.41 | 0.39 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
6 | 127088737 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.882 | 0.120 | 6 | 43791136 | downstream gene variant | G/A | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
6 | 7217284 | non coding transcript exon variant | C/T | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 127188012 | intron variant | G/A | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 127131494 | intron variant | C/G | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||||
|
6 | 126960402 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1.000 | 0.040 | 7 | 25831489 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 121393067 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |