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 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 0.667 | 3 | 2010 | 2013 | |||||
|
6 | 0.882 | 0.080 | 9 | 93953746 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.882 | 0.160 | 9 | 21974682 | missense variant | A/C;G | snv | 6.3E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.925 | 0.080 | 3 | 70879779 | intergenic variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.080 | 6 | 29943448 | missense variant | A/C;G;T | snv | 4.1E-06; 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 7 | 117400063 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 150927414 | intergenic variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 130753797 | intron variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.080 | 18 | 22074176 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 13 | 28355470 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.080 | 3 | 168007561 | downstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.790 | 0.320 | 6 | 29388554 | intron variant | A/G | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 184065565 | downstream gene variant | A/G;T | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 3 | 70868488 | intergenic variant | A/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 61681634 | intron variant | AAACA/-;AAACAAAACA | delins | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.080 | 6 | 29943448 | frameshift variant | ATGA/- | del | 1.9E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 22843345 | synonymous variant | C/A;G | snv | 8.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
23 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 9 | 97548219 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2010 | 2013 |