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 | 9 | 135137855 | regulatory region variant | T/G | snv | 0.74 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 46713638 | intron variant | A/G | snv | 0.80 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 3204477 | intron variant | A/C;T | snv | 7.0E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 131955465 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 12 | 112993031 | intron variant | T/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 17 | 78367559 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 19 | 39241107 | upstream gene variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 19 | 39262180 | upstream gene variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 19 | 4841139 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 39245004 | 5 prime UTR variant | C/G | snv | 0.31 | 0.39 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 19 | 39255579 | upstream gene variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 20 | 3207087 | upstream gene variant | T/C | snv | 8.6E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 39252122 | upstream gene variant | C/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 20 | 3400902 | intron variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 19 | 39243580 | 3 prime UTR variant | C/A | snv | 0.39 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 0.925 | 0.120 | 15 | 45253280 | missense variant | C/T | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 2 | 250470 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 9 | 135561895 | missense variant | A/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 7 | 30677027 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 20 | 3271278 | intron variant | A/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.120 | 19 | 39244466 | missense variant | T/C | snv | 0.29 | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.851 | 0.120 | 9 | 32464137 | intron variant | G/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 | 0.800 | 1.000 | 1 | 2011 | 2011 |