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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.800 | 1.000 | 3 | 2011 | 2018 | |||
|
3 | 1.000 | 0.040 | 10 | 100035604 | regulatory region variant | T/A;G | snv | 0.43 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 149707970 | intron variant | C/T | snv | 8.6E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1 | 76433779 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
10 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.700 | 1.000 | 2 | 2011 | 2019 | ||||
|
4 | 1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2019 | ||||||
|
3 | 4 | 87254878 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 10 | 112189906 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 36922355 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 9 | 95446682 | 3 prime UTR variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 10 | 100101678 | downstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
5 | 19 | 40827379 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 7 | 28691895 | intron variant | G/A | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.120 | 12 | 112136812 | intron variant | C/T | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 4 | 76495474 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 3 | 120706484 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 7 | 28139639 | intron variant | C/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 2 | 232655544 | intron variant | A/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 5 | 56792072 | intergenic variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.120 | 22 | 31829377 | intron variant | C/A | snv | 6.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 |