| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.800 | 1.000 | 12 | 2008 | 2019 | ||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.800 | 1.000 | 11 | 2008 | 2019 | ||||
|
6 | 1 | 109275216 | 3 prime UTR variant | T/C | snv | 0.75 | 0.800 | 1.000 | 8 | 2008 | 2019 | ||||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.800 | 1.000 | 7 | 2008 | 2019 | ||||
|
13 | 0.851 | 0.080 | 1 | 109274570 | 3 prime UTR variant | A/G | snv | 0.23 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||
|
4 | 1 | 109264661 | intron variant | A/C;T | snv | 4.0E-06; 0.10 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||||
|
5 | 1.000 | 0.040 | 1 | 109272630 | non coding transcript exon variant | A/G | snv | 0.28 | 0.32 | 0.800 | 1.000 | 3 | 2008 | 2018 | |||
|
8 | 0.925 | 0.160 | 1 | 109272258 | intron variant | C/T | snv | 0.17 | 0.21 | 0.700 | 1.000 | 2 | 2008 | 2012 | |||
|
3 | 1 | 109256099 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 109271097 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 109275536 | 3 prime UTR variant | -/T | ins | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 109262024 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 109275536 | 3 prime UTR variant | C/A;G;T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 109264477 | synonymous variant | G/A;C | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.080 | 1 | 109264212 | synonymous variant | C/A;T | snv | 4.0E-06; 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 |