| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 31754078 | intron variant | C/T | snv | 0.49 |
|
0.810 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1 | 39529402 | 3 prime UTR variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2019 | 2020 | |||||||||
|
13 | 97711228 | intergenic variant | T/C | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 2005 | 2016 | |||||||
|
0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 9 | 22072265 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 39527136 | 3 prime UTR variant | T/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 4 | 154585712 | splice acceptor variant | G/A;C;T | snv | 4.8E-05; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 116161170 | intron variant | A/C;G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
9 | 121725216 | intron variant | C/T | snv | 4.0E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |