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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 20 | 53605567 | intron variant | C/T | snv | 8.1E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 1 | 3080038 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 6 | 135130442 | intergenic variant | C/T | snv | 0.21 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 12 | 2414606 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
4 | 6 | 135144336 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||||
|
3 | 6 | 43973400 | intergenic variant | T/C | snv | 3.3E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
8 | 10 | 69334748 | intron variant | T/C | snv | 6.4E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 3 | 71207158 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
10 | 18 | 63253621 | intron variant | C/T | snv | 2.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 6 | 135142809 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||||
|
3 | 5 | 88895818 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 6 | 135182647 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
10 | 4 | 54542832 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 11 | 33892021 | 5 prime UTR variant | T/C | snv | 0.43 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 18 | 48934533 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 17 | 78125783 | missense variant | A/G | snv | 0.24 | 0.29 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
4 | 17 | 81558634 | 3 prime UTR variant | A/G | snv | 0.24 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 6 | 41937537 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2009 | 2010 | |||||||
|
12 | 5 | 1104823 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 1 | 214007378 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 6 | 164057356 | intergenic variant | C/A | snv | 0.46 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 5 | 1284020 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
5 | 2 | 46127912 | intron variant | A/C | snv | 0.43 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
3 | 19 | 2161322 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 8 | 21934261 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 2 | 2016 | 2019 |