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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 19 | 13230185 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.968 | 31 | 2000 | 2019 | |||
|
8 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2001 | 2011 | |||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 0.500 | 2 | 2001 | 2004 | |||
|
9 | 0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2003 | 2018 | |||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2004 | 2007 | |||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.020 | 0.500 | 2 | 2005 | 2014 | |||
|
2 | 1.000 | 0.080 | 19 | 13312778 | missense variant | T/C | snv | 8.9E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.060 | 0.667 | 6 | 2006 | 2019 | |||
|
7 | 0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||
|
12 | 0.790 | 0.120 | 19 | 13365448 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 0.500 | 2 | 2007 | 2011 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
50 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 0.750 | 4 | 2008 | 2017 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2008 | 2015 | ||||
|
5 | 0.851 | 0.080 | 2 | 165998049 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.925 | 0.160 | 7 | 73703866 | 3 prime UTR variant | T/C | snv | 0.42 | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2012 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 2009 | 2015 | |||
|
2 | 1.000 | 0.040 | 7 | 73710933 | intron variant | G/A | snv | 0.28 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 19 | 13298882 | missense variant | C/G;T | snv | 0.13; 4.6E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 19 | 13298658 | missense variant | T/A;C | snv | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 |