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 | 8 | 22692184 | non coding transcript exon variant | C/T | snv | 0.27 |
|
0.020 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 20 | 63400682 | missense variant | C/A | snv | 0.18 |
|
0.020 | 1.000 | 2 | 2007 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 211387139 | synonymous variant | T/C | snv | 0.30 | 0.26 |
|
0.020 | 0.500 | 2 | 2010 | 2017 | |||||||
|
1.000 | 0.040 | 15 | 92393214 | upstream gene variant | C/T | snv | 0.97 |
|
0.020 | 1.000 | 2 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 15 | 92392939 | upstream gene variant | C/T | snv | 0.97 |
|
0.020 | 1.000 | 2 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 14 | 81278392 | missense variant | A/C;G | snv | 4.0E-06; 0.81 |
|
0.020 | 0.500 | 2 | 2011 | 2013 | ||||||||
|
0.925 | 0.040 | 12 | 108894208 | intron variant | A/G | snv | 0.18 |
|
0.020 | 0.500 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.882 | 0.040 | 13 | 105451011 | intergenic variant | C/T | snv | 0.31 |
|
0.020 | 1.000 | 2 | 2004 | 2006 | ||||||||
|
1.000 | 0.040 | 13 | 105509652 | upstream gene variant | T/C | snv | 0.47 |
|
0.020 | 1.000 | 2 | 2006 | 2018 | ||||||||
|
0.925 | 0.040 | 12 | 108888108 | intron variant | G/A | snv | 0.34 |
|
0.020 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
1.000 | 0.040 | 22 | 38060591 | intron variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.040 | 10 | 60145969 | splice region variant | T/C | snv | 7.6E-03 | 8.2E-03 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 21459575 | intron variant | C/T | snv | 0.38 |
|
0.020 | < 0.001 | 2 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 15 | 90883330 | 3 prime UTR variant | G/A;C | snv |
|
0.720 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 79807648 | intron variant | G/C | snv | 0.29 |
|
0.020 | 0.500 | 2 | 2011 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 66335081 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2012 | |||||||||
|
1.000 | 0.040 | 1 | 147611315 | intron variant | T/C | snv | 0.71 |
|
0.720 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 11 | 125481576 | missense variant | A/T | snv | 0.15 | 0.19 |
|
0.020 | 1.000 | 2 | 2004 | 2007 | |||||||
|
1.000 | 0.040 | 22 | 40507417 | intron variant | A/G | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
1.000 | 0.040 | 13 | 97992999 | synonymous variant | A/G | snv | 7.9E-02 | 7.2E-02 |
|
0.020 | 1.000 | 2 | 2004 | 2007 | |||||||
|
0.882 | 0.040 | 13 | 46892487 | synonymous variant | G/A | snv | 1.8E-02 | 1.7E-02 |
|
0.020 | 0.500 | 2 | 2007 | 2019 | |||||||
|
1.000 | 0.040 | Y | 1352245 | intron variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||||
|
0.882 | 0.040 | 5 | 79695550 | intron variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
1.000 | 0.040 | 11 | 124742695 | intron variant | C/G | snv | 0.35 |
|
0.020 | 1.000 | 2 | 2008 | 2016 |