| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 |
|
0.720 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
1.000 | 0.120 | 9 | 16911668 | intergenic variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16877790 | intergenic variant | G/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16911759 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 |
|
0.710 | 1.000 | 1 | 2010 | 2012 | |||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.720 | 1.000 | 0 | 1997 | 1998 | |||||||
|
0.925 | 0.320 | 11 | 108307985 | splice donor variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.120 | 9 | 16858086 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 9 | 16865701 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16854369 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 9 | 16848792 | intron variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16856885 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 9 | 16864523 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16864524 | intron variant | GTCT/- | delins | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16851680 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 9 | 16862282 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.120 | 4 | 13607505 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.120 | 7 | 140753379 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 43070993 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 17 | 43047676 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43051069 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 43082529 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.730 | 1.000 | 0 | 2006 | 2010 | ||||||||
|
0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
0.800 | 0 |