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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 5 | 161471322 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.160 | 12 | 121232997 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 12 | 2551994 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 1 | 7820623 | missense variant | T/G | snv | 0.17 | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.040 | 1 | 147552120 | intron variant | C/T | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 2679713 | synonymous variant | G/A | snv | 0.68 | 0.57 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.807 | 0.080 | 11 | 113975284 | 5 prime UTR variant | T/C | snv | 0.79 | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.120 | 10 | 60325579 | intron variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 12 | 2259508 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 11 | 63837705 | upstream gene variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 37661874 | intron variant | G/A;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.040 | 11 | 27674363 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 12 | 2206827 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 92379618 | intergenic variant | A/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 4 | 25113042 | regulatory region variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 10 | 67908257 | intron variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.160 | 11 | 27659197 | 5 prime UTR variant | A/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 11 | 27673288 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.080 | 2 | 75050887 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 4 | 94585691 | synonymous variant | G/A | snv | 0.18 | 0.22 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 4 | 117725752 | intergenic variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 |