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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.120 | 19 | 47680514 | missense variant | C/G;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.882 | 0.080 | 10 | 21541175 | intron variant | A/G | snv | 0.31 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 22 | 29636805 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2013 | 2020 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2013 | |||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 7 | 129210500 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.790 | 0.160 | 10 | 21626690 | intron variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 10 | 21494705 | non coding transcript exon variant | G/A | snv | 0.24 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 21971097 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 9 | 22006096 | missense variant | C/G;T | snv | 4.2E-06; 8.4E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
13 | 0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 19 | 10154774 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
17 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.020 | 1.000 | 2 | 2017 | 2017 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 1.000 | 2 | 2017 | 2017 | |||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.080 | 10 | 102550019 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
14 | 0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |