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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.776 | 0.200 | 2 | 218136011 | 3 prime UTR variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 7 | 55152484 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 15 | 45253280 | missense variant | C/T | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 131955465 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
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 | |||||
|
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 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 19 | 6713280 | synonymous variant | C/G;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 7 | 30677027 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.280 | 19 | 7747650 | upstream gene variant | A/G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2014 | 2014 |