| 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 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
8 | 125492484 | intron variant | T/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 115636338 | intron variant | A/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 20703255 | intron variant | T/C | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
4 | 31395996 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
12 | 73207352 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
4 | 167218229 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 12587421 | non coding transcript exon variant | G/C | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
20 | 40462847 | regulatory region variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
1.000 | 0.080 | 2 | 135080336 | intron variant | C/A | snv | 0.61 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
11 | 122651667 | upstream gene variant | T/C | snv | 0.39 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
6 | 115991730 | intron variant | A/T | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
5 | 75340659 | intron variant | C/A | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 23439740 | intron variant | C/T | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233770738 | 3 prime UTR variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2013 | ||||||||||
|
0.925 | 0.120 | 11 | 118615352 | intron variant | T/C | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 46425014 | regulatory region variant | C/T | snv | 8.9E-03 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 202667581 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 1044141 | intron variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 1 | 2009 | 2013 | |||||||
|
6 | 39283061 | regulatory region variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
17 | 7188331 | downstream gene variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
22 | 46231706 | intron variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 |