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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | X | 123307628 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.090 | 0.778 | 9 | 1999 | 2016 | |||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 22 | 19940569 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 22 | 19940569 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.040 | 21 | 33027093 | synonymous variant | A/G | snv | 0.51 | 0.53 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
4 | 0.851 | 0.120 | 21 | 33029641 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2007 | 2019 | |||||
|
4 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.040 | 21 | 33029069 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 21 | 33015144 | intron variant | G/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 21 | 33028471 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 20 | 12018497 | intergenic variant | A/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 20 | 12014779 | intergenic variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 20 | 12015619 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 18 | 28070318 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 18 | 28171702 | intron variant | G/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 18 | 27985092 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 18 | 73963859 | intron variant | T/C | snv | 0.19 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 18 | 27952340 | missense variant | T/C | snv | 2.5E-02 | 2.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.050 | 0.600 | 5 | 2007 | 2018 | ||||
|
5 | 0.851 | 0.160 | 17 | 30237152 | upstream gene variant | G/A | snv | 6.3E-02 | 0.030 | 0.667 | 3 | 2008 | 2018 | ||||
|
3 | 0.882 | 0.040 | 17 | 30228407 | intron variant | G/C | snv | 0.14 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
3 | 0.925 | 0.120 | 17 | 30211356 | missense variant | T/C;G | snv | 7.4E-04 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 17 | 44346297 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.040 | 16 | 89939045 | downstream gene variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 |