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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.900 | 0.889 | 18 | 2007 | 2018 | ||||
|
10 | 0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 | 0.860 | 0.900 | 10 | 2008 | 2018 | |||
|
3 | 0.925 | 0.080 | 17 | 39908152 | intron variant | C/T | snv | 0.40 | 0.35 | 0.820 | 1.000 | 5 | 2011 | 2018 | |||
|
9 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.820 | 1.000 | 5 | 2010 | 2016 | ||||
|
3 | 0.925 | 0.160 | 17 | 39910014 | intron variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2011 | 2019 | |||||
|
4 | 0.882 | 0.160 | 17 | 39905964 | missense variant | C/T | snv | 0.43 | 0.39 | 0.800 | 1.000 | 2 | 2011 | 2018 | |||
|
3 | 0.925 | 0.160 | 17 | 39911790 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
3 | 0.925 | 0.080 | 17 | 39910767 | intron variant | C/T | snv | 0.36 | 0.710 | 1.000 | 2 | 2008 | 2011 | ||||
|
2 | 0.925 | 0.080 | 17 | 39905186 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 17 | 39908718 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 39917590 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.160 | 17 | 39918265 | non coding transcript exon variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 17 | 39919173 | non coding transcript exon variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 17 | 39917778 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.160 | 17 | 39917793 | non coding transcript exon variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 17 | 39908216 | splice acceptor variant | T/A;C | snv | 0.40 | 0.030 | 1.000 | 3 | 2013 | 2018 |