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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.800 | 1.000 | 6 | 2013 | 2019 | ||||
|
13 | 0.851 | 0.080 | 1 | 109274570 | 3 prime UTR variant | A/G | snv | 0.23 | 0.800 | 1.000 | 6 | 2012 | 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 | ||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.800 | 1.000 | 5 | 2013 | 2019 | |||||||
|
7 | 0.925 | 0.120 | 5 | 75352778 | intron variant | A/T | snv | 0.38 | 0.800 | 1.000 | 5 | 2008 | 2019 | ||||
|
5 | 1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 5 | 2009 | 2019 | ||||
|
7 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 0.800 | 1.000 | 5 | 2012 | 2018 | ||||||
|
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 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.800 | 1.000 | 5 | 2008 | 2013 | |||
|
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 | |||||
|
16 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 0.800 | 1.000 | 5 | 2012 | 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 | |||||
|
4 | 8 | 54509054 | upstream gene variant | G/A | snv | 0.19 | 0.800 | 1.000 | 4 | 2013 | 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 | ||||||
|
5 | 1.000 | 0.080 | 19 | 44943964 | intron variant | G/A | snv | 1.3E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
3 | 6 | 160157828 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
14 | 0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||
|
3 | 20 | 17865277 | intergenic variant | A/C;G;T | snv | 0.800 | 1.000 | 4 | 2013 | 2019 |