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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
4 | 1 | 62583880 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
4 | 11 | 116780399 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 16 | 30907166 | intron variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
6 | 1.000 | 0.120 | 1 | 62531167 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2019 | |||||
|
1 | 8 | 10826419 | intron variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
4 | 11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
2 | 7 | 73448919 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 17 | 43797377 | downstream gene variant | C/A | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
3 | 5 | 157052312 | intron variant | G/A;C | snv | 6.2E-03; 0.67 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
9 | 0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
4 | 8 | 19985951 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
14 | 0.851 | 0.200 | 11 | 61836038 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2008 | 2012 | |||||
|
12 | 0.925 | 0.080 | 11 | 61855668 | non coding transcript exon variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
5 | 0.925 | 0.200 | 11 | 116741111 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
12 | 0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
5 | 1.000 | 0.080 | 15 | 58387979 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.040 | 13 | 19526394 | intron variant | C/T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
2 | 16 | 15036083 | missense variant | C/A;T | snv | 4.0E-06; 0.31 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||||
|
1 | 7 | 116717990 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
3 | 8 | 125511281 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2014 | 2018 |