| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
11 | 102527789 | synonymous variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 3 | 48184680 | missense variant | G/A | snv | 5.7E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.120 | 15 | 78617197 | intron variant | G/T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 11 | 65649963 | synonymous variant | G/A | snv | 0.31 | 0.30 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 15 | 79090236 | missense variant | G/A | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2011 | |||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2011 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
8 | 124589710 | missense variant | C/A;G;T | snv | 1.2E-05; 4.1E-06; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.080 | 6 | 22298508 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 2 | 186678500 | 3 prime UTR variant | G/C | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.925 | 0.080 | 17 | 50072022 | synonymous variant | C/T | snv | 0.17 | 0.19 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
9 | 21140673 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 21151554 | intergenic variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 43771130 | missense variant | G/T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 |