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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 58799804 | intergenic variant | T/C | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.120 | 9 | 117701903 | upstream gene variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 18 | 22610832 | intergenic variant | G/A | snv | 0.86 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 16 | 29656932 | regulatory region variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 18 | 22611328 | intergenic variant | A/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 16 | 50691282 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 32613805 | intergenic variant | C/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.200 | 3 | 38137763 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 14 | 67651415 | missense variant | C/G;T | snv | 9.2E-02 | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.120 | 4 | 76023632 | intron variant | C/T | snv | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 17 | 34357972 | intron variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 17 | 35879999 | intron variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 19 | 7744967 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 7 | 80629494 | intron variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 80602188 | 5 prime UTR variant | G/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 7 | 80674446 | intron variant | T/G | snv | 6.7E-02 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | X | 136659026 | intron variant | T/C | snv | 0.17 | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 3 | 50610457 | 5 prime UTR variant | T/G | snv | 9.6E-02 | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |