Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | X | 123239256 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | X | 123403426 | synonymous variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 9 | 137156924 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 15620624 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.776 | 0.120 | 6 | 15627871 | intron variant | T/C | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.040 | 6 | 15664978 | upstream gene variant | A/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 1 | 163063552 | regulatory region variant | A/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 4 | 163329645 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.040 | 2 | 170822115 | synonymous variant | T/C | snv | 0.39 | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 2 | 170845970 | intron variant | C/T | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1.000 | 0.040 | 1 | 183277955 | intron variant | C/T | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.090 | 1.000 | 9 | 2011 | 2015 | |||||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 22 | 19942636 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.960 | 25 | 1997 | 2019 | |||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.040 | 22 | 20241019 | downstream gene variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 7 | 20828189 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 |