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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.925 | 0.080 | 1 | 34784797 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 1.000 | 0.080 | 1 | 34785018 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.080 | 1 | 34784887 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 7 | 55161592 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 97221459 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.120 | 12 | 57471538 | missense variant | G/A | snv | 0.50 | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 12 | 57459370 | non coding transcript exon variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
3 | 1.000 | 0.040 | 7 | 76304100 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 16 | 16081173 | intron variant | A/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 7 | 99930354 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 150757317 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 6 | 170543473 | intron variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 7 | 96096624 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.120 | 11 | 85654139 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.752 | 0.400 | 1 | 26427451 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.851 | 0.080 | X | 24503479 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
19 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 21 | 42281867 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 |