| 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 | 15 | 54388434 | intron variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 11 | 49685809 | intron variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 17 | 45829360 | splice region variant | A/C | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 17 | 45934459 | intron variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | X | 83449447 | intergenic variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 2 | 168235432 | intron variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 7 | 72798898 | intron variant | A/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 7 | 29731981 | non coding transcript exon variant | A/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.120 | 17 | 45636559 | non coding transcript exon variant | A/C;G;T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 15 | 61708933 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 18 | 48726444 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 5 | 2009 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 45913906 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 4 | 2009 | 2014 | ||||||||
|
0.851 | 0.160 | 17 | 45846317 | missense variant | A/G | snv | 0.15 | 0.14 |
|
0.810 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.925 | 0.160 | 17 | 46712837 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.851 | 0.160 | 17 | 45641777 | non coding transcript exon variant | A/G | snv | 0.18 | 0.29 |
|
0.810 | 1.000 | 3 | 2009 | 2015 | |||||||
|
0.925 | 0.120 | 17 | 46169798 | intron variant | A/G | snv |
|
0.700 | 1.000 | 3 | 2009 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 46111701 | intron variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.925 | 0.120 | 17 | 45974480 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.720 | 1.000 | 2 | 2008 | 2012 | |||||||
|
1.000 | 0.040 | 4 | 89808451 | intron variant | A/G | snv | 0.78 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 4 | 15736314 | intron variant | A/G | snv | 0.24 |
|
0.810 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 4 | 89876150 | upstream gene variant | A/G | snv | 0.16 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 45835269 | 3 prime UTR variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 |
|
0.840 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 |
|
0.730 | 0.750 | 1 | 2010 | 2012 |