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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.030 | 0.667 | 3 | 2011 | 2017 | |||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.790 | 0.900 | 10 | 2008 | 2018 | |||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.100 | 1.000 | 29 | 2008 | 2018 | |||
|
13 | 0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 | 0.050 | 1.000 | 5 | 2009 | 2014 | ||||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.040 | 1.000 | 4 | 2004 | 2016 | ||||
|
7 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 0.040 | 1.000 | 4 | 2004 | 2013 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 1.000 | 4 | 2006 | 2013 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.030 | 1.000 | 3 | 2009 | 2017 | |||
|
4 | 0.882 | 0.120 | 15 | 78636604 | intron variant | G/T | snv | 0.35 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
5 | 0.827 | 0.160 | 15 | 78625057 | synonymous variant | A/G;T | snv | 0.69 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 20 | 63346204 | 3 prime UTR variant | G/A;C | snv | 0.71 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
1 | 1.000 | 0.080 | 8 | 27470994 | missense variant | G/A;T | snv | 0.17 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.120 | 19 | 40804666 | non coding transcript exon variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2015 | 2015 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 1.000 | 2 | 2004 | 2017 | |||
|
4 | 0.925 | 0.120 | 8 | 42695355 | upstream gene variant | C/T | snv | 0.64 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
8 | 0.851 | 0.160 | 15 | 78615314 | intron variant | T/C | snv | 0.29 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 15 | 78552014 | 3 prime UTR variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 49621173 | intron variant | A/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 |