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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.100 | 1.000 | 15 | 2008 | 2019 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.900 | 0.923 | 13 | 2007 | 2019 | ||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.880 | 1.000 | 10 | 2007 | 2018 | |||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.090 | 1.000 | 9 | 2008 | 2018 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.770 | 1.000 | 8 | 2007 | 2013 | ||||
|
10 | 0.827 | 0.160 | 6 | 26458037 | 5 prime UTR variant | T/C | snv | 0.70 | 0.780 | 1.000 | 8 | 2011 | 2014 | ||||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.060 | 1.000 | 6 | 2005 | 2019 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.060 | 0.833 | 6 | 2008 | 2015 | |||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.050 | 1.000 | 5 | 2013 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.800 | 5 | 2003 | 2019 | |||||
|
10 | 0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 | 0.040 | 1.000 | 4 | 2001 | 2013 | ||||
|
9 | 0.763 | 0.200 | 17 | 64356203 | missense variant | C/A;T | snv | 0.38 | 0.040 | 1.000 | 4 | 2001 | 2013 | ||||
|
14 | 0.776 | 0.280 | 9 | 22119196 | non coding transcript exon variant | T/C | snv | 0.50 | 0.730 | 1.000 | 4 | 2007 | 2018 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 0.750 | 4 | 2003 | 2012 | |||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.040 | 1.000 | 4 | 2008 | 2012 | ||||
|
5 | 0.925 | 0.080 | 19 | 10679486 | intron variant | T/C | snv | 0.76 | 0.740 | 1.000 | 4 | 2011 | 2011 | ||||
|
18 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2003 | 2016 | |||||
|
7 | 0.807 | 0.200 | 6 | 150931849 | intron variant | G/A | snv | 0.35 | 0.040 | 1.000 | 4 | 2010 | 2015 | ||||
|
5 | 0.882 | 0.160 | 16 | 11003622 | intron variant | C/G;T | snv | 0.730 | 1.000 | 4 | 2009 | 2011 | |||||
|
4 | 0.925 | 0.080 | 9 | 22088095 | intron variant | A/G | snv | 0.42 | 0.810 | 1.000 | 3 | 2007 | 2018 | ||||
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.810 | 1.000 | 3 | 2009 | 2017 | |||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.030 | 1.000 | 3 | 2004 | 2007 | ||||
|
5 | 0.851 | 0.200 | 18 | 23845972 | intron variant | G/A | snv | 0.47 | 0.720 | 1.000 | 3 | 2010 | 2011 | ||||
|
5 | 0.827 | 0.160 | 6 | 12927312 | intron variant | C/G | snv | 0.27 | 0.820 | 1.000 | 3 | 2009 | 2015 | ||||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.720 | 0.667 | 3 | 2007 | 2011 |