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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.240 | 1 | 209697571 | intron variant | A/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 13 | 42573888 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 27979579 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 12 | 27984936 | regulatory region variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.240 | 17 | 50195288 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50191826 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 15 | 45676237 | missense variant | T/C | snv | 0.24 | 0.19 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 1.000 | 0.080 | 4 | 87811540 | missense variant | G/A | snv | 0.30 | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 4 | 87811611 | missense variant | A/G | snv | 0.21 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.807 | 0.360 | 12 | 121177328 | missense variant | C/G | snv | 0.14 | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.200 | 1 | 160882036 | missense variant | A/G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 11 | 61962313 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | X | 32365046 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.790 | 0.240 | 17 | 50196172 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.240 | 7 | 94409768 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.240 | 7 | 94410457 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50190578 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.240 | 17 | 50196163 | missense variant | C/T | snv | 0.700 | 0 |