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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.807 | 0.240 | 17 | 7674200 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.925 | 0.080 | 8 | 127397266 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
1 | 5 | 102459731 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.120 | 9 | 84955504 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
16 | 0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.080 | 3 | 41225816 | synonymous variant | G/A | snv | 3.2E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 3 | 12433975 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
9 | 0.827 | 0.240 | 14 | 100853087 | non coding transcript exon variant | A/G | snv | 0.42 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.160 | 12 | 68839337 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 12 | 109908872 | missense variant | C/T | snv | 5.6E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2002 | 2011 | ||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.030 | 1.000 | 3 | 1998 | 2005 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.030 | 1.000 | 3 | 1998 | 2005 | |||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.090 | 0.889 | 9 | 2003 | 2019 | |||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 16 | 2005 | 2015 | |||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.700 | 1.000 | 14 | 2004 | 2016 |