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 | 0.090 | 1.000 | 9 | 2007 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.090 | 0.889 | 9 | 2002 | 2017 | |||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.070 | 1.000 | 7 | 2009 | 2016 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.060 | 1.000 | 6 | 2005 | 2012 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2012 | 2018 | |||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.030 | 0.667 | 3 | 2005 | 2013 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||
|
9 | 0.763 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.030 | 1.000 | 3 | 2013 | 2019 | |||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
10 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
8 | 0.807 | 0.160 | 8 | 10292057 | intron variant | A/G | snv | 0.15 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.020 | 0.500 | 2 | 2011 | 2011 | ||||
|
11 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
8 | 0.807 | 0.120 | 13 | 50843630 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2002 | 2008 | |||||
|
4 | 0.851 | 0.080 | 19 | 6713295 | missense variant | C/G | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2002 | 2010 | ||||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
8 | 0.776 | 0.120 | 10 | 44280376 | downstream gene variant | C/T | snv | 0.25 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2014 | |||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2018 | 2019 |