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 | 0.882 | 0.080 | 1 | 204192819 | missense variant | C/T | snv | 3.3E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
18 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
17 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 7 | 45922864 | upstream gene variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.827 | 0.160 | 7 | 45915430 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
25 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 1 | 204196482 | 5 prime UTR variant | A/- | delins | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |