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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | X | 114903581 | intron variant | C/G | snv |
|
0.020 | < 0.001 | 2 | 2014 | 2015 | |||||||||
|
1.000 | 0.040 | 7 | 86818264 | intron variant | T/G | snv | 2.3E-02 |
|
0.020 | < 0.001 | 2 | 2005 | 2008 | ||||||||
|
1.000 | 0.040 | 1 | 21459575 | intron variant | C/T | snv | 0.38 |
|
0.020 | < 0.001 | 2 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 231827745 | intron variant | C/T | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 157890009 | regulatory region variant | T/A | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 22 | 19523195 | 3 prime UTR variant | C/G | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 2 | 49921834 | 3 prime UTR variant | C/T | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 4 | 94585691 | synonymous variant | G/A | snv | 0.18 | 0.22 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 2 | 50472460 | missense variant | T/C | snv | 4.0E-05 | 4.2E-05 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 8 | 21693288 | missense variant | A/T | snv | 0.38 | 0.38 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 11 | 113424254 | intron variant | T/C | snv | 0.45 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 10 | 103425101 | missense variant | G/A | snv | 1.8E-03 | 6.9E-04 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 14 | 104788868 | intron variant | G/A | snv | 0.30 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 16 | 1813980 | intron variant | C/A;G | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.160 | 10 | 92690015 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 17 | 39633179 | non coding transcript exon variant | C/T | snv | 1.6E-02 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.160 | 17 | 74923048 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 8 | 21718897 | intron variant | C/G | snv |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 3 | 114171881 | missense variant | C/A;T | snv | 8.7E-04 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 22 | 19515751 | intron variant | G/C | snv | 0.84 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.200 | 22 | 19961340 | intron variant | G/A;C;T | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.200 | 12 | 71151778 | intron variant | T/A | snv | 7.6E-02 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 11797731 | intron variant | G/A | snv | 0.13 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 |