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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
13 | 0.763 | 0.360 | 11 | 116837697 | 5 prime UTR variant | C/T | snv | 0.17 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.030 | 1.000 | 3 | 1999 | 2015 | |||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.030 | 1.000 | 3 | 2008 | 2018 | ||||
|
22 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2000 | |||||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2001 | 2014 | |||||
|
5 | 12 | 21215788 | intron variant | T/C | snv | 0.18 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||||
|
4 | 0.925 | 0.120 | X | 15583220 | intron variant | A/G | snv | 9.1E-02 | 0.020 | 0.500 | 2 | 2018 | 2018 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
10 | 0.827 | 0.160 | 6 | 26458037 | 5 prime UTR variant | T/C | snv | 0.70 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
4 | 0.882 | 0.160 | X | 15572684 | intron variant | C/G | snv | 0.020 | 1.000 | 2 | 2018 | 2018 | |||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 1 | 151368294 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1 | 11 | 116761784 | intron variant | C/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 11 | 117661016 | intron variant | C/T | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.040 | 12 | 109472747 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 12 | 109474527 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 8 | 11589291 | regulatory region variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.851 | 0.080 | 16 | 56959249 | upstream gene variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 11 | 231980 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 1 | 151369834 | synonymous variant | T/C | snv | 3.5E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
2 | 11 | 116802796 | intergenic variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 13 | 98684036 | 3 prime UTR variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 |