| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | X | 66021884 | 3 prime UTR variant | G/A | snv | 9.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.160 | 16 | 3254380 | missense variant | C/G;T | snv | 6.3E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.320 | 16 | 3243403 | missense variant | T/A;C | snv | 8.0E-06; 5.2E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 13 | 92232844 | intron variant | T/A | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.120 | 20 | 10306440 | 3 prime UTR variant | T/C | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 19 | 19250926 | 3 prime UTR variant | G/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 6 | 46657898 | intron variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 12 | 57771302 | intron variant | C/T | snv | 0.38 | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 9 | 119222275 | intron variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.280 | 11 | 47255124 | intron variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 16 | 11243864 | downstream gene variant | G/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 20 | 46095024 | upstream gene variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 9109909 | upstream gene variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 6075359 | upstream gene variant | C/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |