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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.040 | 1.000 | 4 | 2012 | 2019 | |||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
16 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 0.040 | 1.000 | 4 | 2011 | 2016 | |||
|
25 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2011 | 2014 | |||||
|
10 | 0.776 | 0.160 | 19 | 45421104 | intron variant | G/C | snv | 0.53 | 0.020 | 0.500 | 2 | 2007 | 2014 | ||||
|
7 | 0.827 | 0.200 | 19 | 45419065 | intron variant | G/A;T | snv | 1.9E-04; 0.20 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
10 | 0.776 | 0.160 | 19 | 45407414 | 3 prime UTR variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 19 | 45421317 | missense variant | G/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 19 | 45417538 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 19 | 45413183 | intron variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 19 | 45410788 | intron variant | T/C | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |