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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 5 | 1443383 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.080 | 0.875 | 8 | 2007 | 2013 | |||
|
1 | 1 | 215152892 | intron variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 215239563 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.030 | 1.000 | 3 | 2011 | 2018 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.790 | 0.160 | 6 | 35702206 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 1.000 | 2 | 2001 | 2003 | |||
|
6 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.882 | 0.040 | 18 | 55481790 | intron variant | A/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.925 | 0.080 | 5 | 79517086 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.120 | 10 | 81896770 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.040 | 6 | 88146644 | intron variant | T/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 98087276 | intergenic variant | A/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 |