| 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 | 1 | 231827745 | intron variant | C/T | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 102279420 | intron variant | A/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 99943207 | intron variant | G/A | snv | 6.2E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 138252460 | 3 prime UTR variant | T/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.040 | 5 | 63965502 | intron variant | C/T | snv | 0.58 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.925 | 0.040 | 5 | 79799594 | missense variant | C/T | snv | 8.7E-02 | 8.2E-02 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
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 | 5 | 175445201 | upstream gene variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 1.000 | 25 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 148621907 | intron variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 10 | 117261896 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 15 | 22896157 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 6 | 32058330 | missense variant | C/A;G;T | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 8 | 142228143 | intron variant | C/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 8 | 22463293 | intron variant | G/A | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 15633201 | intron variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.925 | 0.040 | 14 | 54903622 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 14 | 33800515 | synonymous variant | C/A;G;T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 14 | 33800569 | synonymous variant | C/G | snv | 0.12 | 0.12 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 12 | 2212702 | intron variant | A/T | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165268709 | non coding transcript exon variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 2 | 2290654 | intron variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 2293080 | intron variant | A/G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2019 | |||||||||
|
0.925 | 0.080 | 7 | 21480514 | intron variant | G/A | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |