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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 |
|
0.810 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.882 | 0.120 | 5 | 40401407 | intergenic variant | T/G | snv | 0.14 |
|
0.810 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 3433084 | intron variant | T/G | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
1.000 | 0.040 | 21 | 15440233 | intron variant | C/A | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.827 | 0.120 | 19 | 1124032 | intron variant | G/A | snv | 0.24 | 0.26 |
|
0.800 | 1.000 | 2 | 2008 | 2017 | |||||||
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
1.000 | 0.940 | 2 | 2001 | 2018 | |||||||
|
0.882 | 0.160 | 5 | 132435113 | intron variant | C/T | snv | 0.29 |
|
0.810 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.850 | 1.000 | 2 | 2006 | 2013 | |||||||||
|
0.752 | 0.320 | 6 | 167024500 | intron variant | C/T | snv | 0.42 |
|
0.810 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.860 | 0.800 | 2 | 2005 | 2016 | |||||||
|
0.827 | 0.240 | 6 | 32713500 | upstream gene variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv |
|
0.820 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.830 | 1.000 | 2 | 2008 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 233275771 | non coding transcript exon variant | G/A | snv | 0.45 | 0.42 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 |
|
0.850 | 1.000 | 2 | 2005 | 2018 | |||||||
|
0.851 | 0.240 | 5 | 40392626 | regulatory region variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.040 | 16 | 50722863 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2007 | 2014 | |||||||||
|
0.925 | 0.080 | 9 | 114783386 | downstream gene variant | C/T | snv | 0.34 |
|
0.820 | 1.000 | 2 | 2005 | 2019 | ||||||||
|
0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 |
|
0.760 | 1.000 | 2 | 2005 | 2018 | ||||||||
|
0.790 | 0.200 | 8 | 128554935 | intron variant | T/C | snv | 0.19 |
|
0.810 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
0.800 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 73255307 | intron variant | A/G | snv | 0.42 |
|
0.800 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 |
|
0.820 | 1.000 | 2 | 2011 | 2015 |