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 | 118981487 | missense variant | T/C | snv | 8.3E-02 | 0.13 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | |||||||
|
1.000 | 0.080 | 2 | 118975372 | intron variant | G/T | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 118967884 | intron variant | A/G | snv | 1.0E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 118973892 | intron variant | T/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.200 | 12 | 96015423 | intron variant | A/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 118985008 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 12 | 96032219 | intron variant | T/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 10 | 17849701 | missense variant | G/A | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.240 | 2 | 189565370 | missense variant | C/A | snv | 3.8E-03 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.280 | 12 | 68157416 | intron variant | G/A | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.160 | 2 | 113131542 | intron variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 16 | 50691282 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 |
|
0.040 | 0.750 | 4 | 2013 | 2019 | |||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 58799804 | intergenic variant | T/C | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 12 | 121132209 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 |