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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 11 | 60993140 | intron variant | C/A;G | snv | 0.850 | 1.000 | 7 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 116558335 | intron variant | A/G | snv | 0.28 | 0.810 | 1.000 | 5 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 10293054 | intron variant | T/C | snv | 0.32 | 0.830 | 1.000 | 4 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 57739473 | intron variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2009 | 2018 | |||||
|
3 | 0.925 | 0.080 | 11 | 47268596 | missense variant | G/A | snv | 2.2E-04 | 2.6E-04 | 0.740 | 1.000 | 4 | 2016 | 2016 | |||
|
2 | 1.000 | 0.080 | 6 | 137131771 | intergenic variant | A/G | snv | 0.20 | 0.810 | 1.000 | 3 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 59946914 | 3 prime UTR variant | A/G | snv | 0.33 | 0.820 | 1.000 | 3 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 122077921 | splice region variant | G/A | snv | 7.0E-02 | 0.820 | 1.000 | 3 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 230242009 | intron variant | C/T | snv | 0.13 | 0.810 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 8 | 78663569 | intron variant | T/C | snv | 0.64 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 92655550 | intron variant | G/C | snv | 0.57 | 0.710 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 27747289 | intergenic variant | C/T | snv | 0.39 | 0.810 | 1.000 | 2 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 35856473 | 5 prime UTR variant | T/C | snv | 0.26 | 0.020 | < 0.001 | 2 | 2014 | 2017 | ||||
|
3 | 1.000 | 0.080 | 14 | 105706543 | intron variant | G/A | snv | 0.49 | 0.710 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 92607671 | missense variant | C/A | snv | 0.20 | 0.20 | 0.710 | 1.000 | 2 | 2010 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 92682820 | intron variant | C/T | snv | 0.20 | 0.810 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 116495665 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2011 | |||||
|
2 | 1.000 | 0.080 | 2 | 169261301 | intron variant | C/T | snv | 0.24 | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 148038899 | intron variant | G/T | snv | 0.64 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 1.000 | 0.080 | 3 | 121824730 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 162380880 | intron variant | C/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
1 | 1.000 | 0.080 | 3 | 122051692 | upstream gene variant | G/T | snv | 0.44 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.080 | 22 | 21776836 | intron variant | T/G | snv | 0.54 | 0.800 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 11261113 | intron variant | A/G | snv | 0.51 | 0.020 | 0.500 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 122050675 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2016 |