| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 |
|
0.880 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 |
|
0.850 | 1.000 | 1 | 2008 | 2017 | |||||||
|
0.925 | 0.120 | 4 | 87037243 | intron variant | G/A | snv | 0.42 |
|
0.820 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 108801970 | intergenic variant | G/A | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.830 | 1.000 | 1 | 2009 | 2017 | |||||||||
|
0.776 | 0.240 | 5 | 160452971 | intron variant | T/C | snv | 0.44 |
|
0.840 | 1.000 | 1 | 2008 | 2017 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.800 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
0.810 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.807 | 0.320 | 6 | 32698749 | intergenic variant | C/T | snv | 6.4E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.851 | 0.280 | 6 | 32762309 | intron variant | G/A | snv | 0.64 |
|
0.810 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 |
|
0.900 | 0.867 | 2 | 2008 | 2019 | ||||||||
|
0.882 | 0.240 | 6 | 32757416 | intron variant | A/G | snv | 0.60 |
|
0.800 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.752 | 0.440 | 6 | 31753256 | intron variant | G/A | snv | 6.4E-02 | 7.9E-02 |
|
0.810 | 1.000 | 2 | 2008 | 2016 | |||||||
|
0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.790 | 0.400 | 6 | 32293475 | missense variant | T/G | snv | 6.0E-02 | 6.4E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.925 | 0.120 | 6 | 32608701 | regulatory region variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv |
|
0.810 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.240 | 6 | 27566749 | intergenic variant | A/G | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.200 | 6 | 31642752 | non coding transcript exon variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 27592808 | upstream gene variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.200 | 6 | 32082981 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2017 |