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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.040 | 3 | 30453840 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.080 | 3 | 61096480 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.200 | 21 | 46599326 | 3 prime UTR variant | G/A | snv | 0.16; 2.4E-05 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.040 | 1 | 147625465 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.040 | 14 | 96204324 | upstream gene variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.040 | 6 | 35654004 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 6 | 164236705 | intergenic variant | A/G | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 6 | 144709148 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.160 | 6 | 28329086 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.807 | 0.160 | 17 | 76470935 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.040 | 6 | 88146644 | intron variant | T/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.752 | 0.280 | 6 | 88140381 | 3 prime UTR variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 6 | 50758466 | intron variant | C/G | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.120 | 12 | 117937681 | intron variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.200 | 12 | 121162449 | missense variant | GT/AC | mnv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.080 | 12 | 2512979 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.040 | 8 | 49727454 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 72479983 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 2 | 224600060 | intergenic variant | C/T | snv | 2.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 14 | 34840969 | intron variant | A/G | snv | 4.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 6 | 1128802 | intergenic variant | G/T | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |