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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
32 | 0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2009 | 2016 | |||||
|
20 | 0.689 | 0.600 | 19 | 51693200 | non coding transcript exon variant | T/C | snv | 0.45 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
6 | 0.827 | 0.120 | 7 | 76301442 | upstream gene variant | C/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.160 | 22 | 20111808 | 3 prime UTR variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 3 | 122106342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
4 | 0.882 | 0.120 | 5 | 112775679 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.120 | 7 | 129213467 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 22 | 20113073 | non coding transcript exon variant | T/A;C | snv | 1.2E-05; 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 22 | 20111359 | 3 prime UTR variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 |