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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
14 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 0.030 | 1.000 | 3 | 2014 | 2020 | ||||
|
3 | 0.925 | 0.080 | X | 15579386 | intron variant | C/T | snv | 3.9E-02 | 0.030 | 1.000 | 3 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.160 | X | 15572684 | intron variant | C/G | snv | 0.030 | 1.000 | 3 | 2018 | 2019 | |||||
|
5 | 0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 1998 | 1999 | ||||
|
2 | 1.000 | 0.040 | 11 | 57238113 | upstream gene variant | T/C | snv | 0.73 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 1.000 | 0.040 | 9 | 132897292 | missense variant | T/A;C | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2008 | 2012 | ||||
|
4 | 0.882 | 0.160 | 20 | 23035908 | missense variant | T/C | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
12 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 1.000 | 0.040 | 2 | 27079693 | intron variant | G/A | snv | 0.37 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
9 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.882 | 0.120 | 11 | 128917535 | 3 prime UTR variant | G/T | snv | 0.74 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
5 | 0.851 | 0.160 | X | 129655744 | upstream gene variant | A/C | snv | 0.11 | 0.020 | 0.500 | 2 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.120 | 7 | 151004695 | intron variant | G/A | snv | 0.35 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2005 | 2014 | |||||
|
4 | 0.925 | 0.080 | X | 15568841 | intron variant | C/T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
4 | 0.925 | 0.120 | X | 15583220 | intron variant | A/G | snv | 9.1E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.925 | 0.080 | X | 15558483 | downstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | X | 116173577 | 3 prime UTR variant | A/G | snv | 0.020 | 0.500 | 2 | 2006 | 2014 | |||||
|
2 | 1.000 | 0.040 | 11 | 57238490 | upstream gene variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.040 | 2 | 237907946 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |