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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 11 | 76642761 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 186845325 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
19 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 3 | 186860685 | upstream gene variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 0.851 | 0.200 | 3 | 186852664 | non coding transcript exon variant | G/A | snv | 8.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.776 | 0.320 | 3 | 186853770 | splice region variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 2 | 241188699 | stop gained | C/G;T | snv | 5.5E-03 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
10 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2002 | 2012 | |||||
|
8 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
8 | 0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.080 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 22 | 28699888 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
3 | 1.000 | 0.120 | 22 | 28694059 | frameshift variant | T/- | delins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.080 | 2 | 224506080 | missense variant | T/A;C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.120 | 9 | 121665094 | intron variant | G/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.080 | 21 | 38383659 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.030 | 1.000 | 3 | 2013 | 2017 | |||
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.160 | 8 | 23668950 | intergenic variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 |