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 | 1.000 | 0.080 | 18 | 662103 | intron variant | G/A | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 2 | 222299799 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 14 | 64442433 | intron variant | G/A | snv | 0.40 | 0.33 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.080 | 9 | 133671511 | intron variant | G/A;C | snv | 0.53; 1.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 18 | 666371 | intron variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 21 | 43067294 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 14 | 93015978 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 18 | 659236 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 5 | 79074078 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 2 | 74142024 | intron variant | A/G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 74233777 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.938 | 16 | 1995 | 2014 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.030 | 1.000 | 3 | 2003 | 2009 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2000 | 2003 | |||||
|
2 | 1.000 | 0.080 | 6 | 149793609 | missense variant | G/A | snv | 0.46 | 0.53 | 0.020 | 1.000 | 2 | 2006 | 2012 | |||
|
1 | 1.000 | 0.080 | 14 | 36581342 | missense variant | C/T | snv | 9.1E-04 | 4.2E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.160 | 9 | 95447156 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.200 | 5 | 7897078 | missense variant | C/T | snv | 0.16 | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 |