| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
21 | 26125180 | intron variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
16 | 3651823 | 5 prime UTR variant | T/C | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 127797551 | intron variant | C/T | snv | 7.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116794363 | upstream gene variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
10 | 45517829 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||||
|
18 | 31252875 | intergenic variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
22 | 35377961 | upstream gene variant | A/G | snv | 3.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.080 | 13 | 32366208 | intron variant | C/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 115991730 | intron variant | A/T | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
1 | 65419378 | upstream gene variant | C/G | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135090090 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
2 | 21044589 | upstream gene variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 152062578 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 151998730 | intron variant | G/A | snv | 9.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 151950843 | intron variant | G/T | snv | 2.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 169558942 | intron variant | C/A | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 169583872 | intron variant | A/C | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
16 | 56970065 | intron variant | T/C | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56969811 | intron variant | G/T | snv | 0.96 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 237688783 | intron variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |