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 | 1.000 | 0.040 | 1 | 207701830 | intron variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 1.000 | 0.040 | X | 67722783 | intron variant | G/A | snv | 1.5E-02 | 1.5E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 1.000 | 0.040 | 20 | 40600144 | intergenic variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.800 | 1.000 | 12 | 2010 | 2019 | |||
|
12 | 0.807 | 0.240 | 5 | 75360714 | 3 prime UTR variant | T/C;G | snv | 0.37 | 0.800 | 1.000 | 10 | 2010 | 2019 | ||||
|
11 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 0.800 | 1.000 | 9 | 2010 | 2019 | |||||
|
8 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 0.800 | 1.000 | 8 | 2010 | 2019 | |||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
7 | 1.000 | 0.080 | 16 | 72074194 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
9 | 0.827 | 0.160 | 5 | 156963286 | upstream gene variant | T/C | snv | 0.56 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
4 | 1.000 | 0.040 | 1 | 55038977 | upstream gene variant | G/A | snv | 0.66 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||
|
6 | 0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||
|
6 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
3 | 6 | 16127176 | upstream gene variant | C/T | snv | 0.27 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||
|
3 | 1 | 234722850 | upstream gene variant | A/T | snv | 0.62 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 5 | 2010 | 2019 | |||||
|
3 | 17 | 47347749 | intron variant | G/A;T | snv | 0.47 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
3 | 14 | 24414681 | missense variant | G/A | snv | 0.37 | 0.34 | 0.800 | 1.000 | 5 | 2010 | 2019 | |||||
|
3 | 11 | 126374057 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 1 | 25449242 | intron variant | A/T | snv | 0.50 | 0.800 | 1.000 | 4 | 2010 | 2019 |