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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.030 | 1.000 | 3 | 2015 | 2018 | |||
|
6 | 0.807 | 0.160 | 2 | 102152842 | intron variant | A/G | snv | 0.36 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 102152913 | intron variant | G/T | snv | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 2 | 102153326 | intron variant | C/T | snv | 0.22 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.200 | 2 | 102418584 | upstream gene variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
4 | 0.851 | 0.080 | 14 | 103699474 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 1 | 107816883 | intron variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 13 | 108209596 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
1 | 1.000 | 0.080 | 11 | 108325782 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.120 | 11 | 108349930 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.882 | 0.120 | 9 | 110800531 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.851 | 0.080 | 11 | 112164002 | 5 prime UTR variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 10 | 113574365 | synonymous variant | C/T | snv | 0.63 | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 10 | 113580733 | intron variant | G/A;C | snv | 0.57; 8.2E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 10 | 113583298 | missense variant | G/C | snv | 1.0E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 |