| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 |
|
0.840 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 5 | 40386453 | regulatory region variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 |
|
0.810 | 1.000 | 3 | 2008 | 2014 | ||||||||
|
0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 |
|
0.860 | 1.000 | 8 | 2006 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 130768383 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 5 | 139383837 | intron variant | T/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.200 | 5 | 150848436 | synonymous variant | C/T | snv | 0.17 | 0.21 |
|
0.070 | 0.857 | 7 | 2011 | 2014 | |||||||
|
1.000 | 0.040 | 5 | 56143024 | intron variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv |
|
0.710 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 60997124 | intron variant | C/T | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 2 | 102046427 | intron variant | T/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 2 | 60990407 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2008 | 2011 | |||||||||
|
0.851 | 0.240 | 5 | 132393705 | missense variant | C/T | snv | 4.0E-06 |
|
0.050 | 0.800 | 5 | 2006 | 2012 | ||||||||
|
1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 2 | 2007 | 2010 | |||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.810 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.160 | 7 | 17298523 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 7 | 28150502 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 10 | 30439172 | synonymous variant | T/C | snv | 0.51 | 0.45 |
|
0.710 | 1.000 | 3 | 2015 | 2017 |