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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 17 | 39905964 | missense variant | C/T | snv | 0.43 | 0.39 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
7 | 0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
3 | 0.925 | 0.160 | 17 | 39910014 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 39912261 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 39915920 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 0.925 | 0.160 | 17 | 39908216 | splice acceptor variant | T/A;C | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39918763 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 39910119 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39907485 | non coding transcript exon variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39913556 | intron variant | C/G;T | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39913818 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 17 | 39918265 | non coding transcript exon variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 17 | 39919173 | non coding transcript exon variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 17 | 39911790 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 39912823 | intron variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 17 | 39917793 | non coding transcript exon variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 |