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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.862 | 58 | 2003 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.826 | 46 | 2003 | 2019 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 1.000 | 23 | 2005 | 2019 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.100 | 0.933 | 15 | 2000 | 2019 | |||
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.100 | 0.929 | 14 | 1999 | 2019 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 0.917 | 12 | 2010 | 2016 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.800 | 10 | 2005 | 2017 | |||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.100 | 0.800 | 10 | 2010 | 2019 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.090 | 1.000 | 9 | 2010 | 2019 | |||||
|
7 | 0.827 | 0.080 | 7 | 82824392 | missense variant | A/C | snv | 0.45 | 0.34 | 0.780 | 1.000 | 9 | 2009 | 2017 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.090 | 0.778 | 9 | 2004 | 2017 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.070 | 0.714 | 7 | 2002 | 2019 | ||||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.070 | 0.714 | 7 | 2006 | 2018 | |||
|
9 | 0.776 | 0.080 | 16 | 55656513 | 5 prime UTR variant | C/A;T | snv | 0.060 | 0.833 | 6 | 2008 | 2018 | |||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.060 | 1.000 | 6 | 2010 | 2019 | ||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.060 | 1.000 | 6 | 2009 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2012 | 2017 | |||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.050 | 0.600 | 5 | 2007 | 2019 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.040 | 1.000 | 4 | 2008 | 2013 | |||
|
10 | 0.763 | 0.160 | 11 | 27659197 | 5 prime UTR variant | A/T | snv | 0.36 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
3 | 1.000 | 0.040 | 13 | 53051646 | 3 prime UTR variant | A/G | snv | 0.58 | 0.700 | 1.000 | 4 | 2016 | 2019 | ||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.820 | 1.000 | 4 | 2013 | 2019 | |||||
|
3 | 1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2016 |