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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.900 | 0.975 | 160 | 2004 | 2020 | ||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.900 | 0.945 | 55 | 2007 | 2019 | ||||
|
25 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 0.900 | 0.964 | 28 | 2007 | 2019 | |||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.900 | 1.000 | 24 | 2008 | 2019 | ||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.900 | 1.000 | 19 | 2008 | 2019 | ||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.900 | 1.000 | 15 | 2008 | 2019 | ||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.900 | 1.000 | 14 | 2007 | 2018 | ||||
|
23 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 0.900 | 1.000 | 14 | 2008 | 2019 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.890 | 0.938 | 16 | 2007 | 2019 | ||||
|
16 | 0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 | 0.870 | 1.000 | 12 | 2008 | 2016 | ||||
|
15 | 0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 | 0.860 | 1.000 | 10 | 2008 | 2019 | ||||
|
16 | 0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 | 0.850 | 1.000 | 6 | 2008 | 2016 | ||||
|
11 | 0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 | 0.840 | 1.000 | 8 | 2010 | 2019 | ||||
|
13 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.840 | 1.000 | 7 | 2008 | 2019 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.840 | 1.000 | 4 | 2010 | 2014 | |||
|
14 | 0.732 | 0.240 | 8 | 127412547 | intron variant | A/G | snv | 0.63 | 0.830 | 0.889 | 9 | 2008 | 2019 | ||||
|
15 | 0.742 | 0.160 | 6 | 36655123 | regulatory region variant | C/A | snv | 0.28 | 0.830 | 1.000 | 4 | 2012 | 2019 | ||||
|
14 | 0.776 | 0.080 | 20 | 62345988 | intron variant | T/C | snv | 0.56 | 0.830 | 1.000 | 3 | 2010 | 2018 | ||||
|
12 | 0.776 | 0.080 | 1 | 221872104 | intergenic variant | G/T | snv | 0.34 | 0.830 | 0.667 | 3 | 2010 | 2013 | ||||
|
18 | 0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 | 0.820 | 0.833 | 6 | 2014 | 2019 | ||||
|
10 | 0.776 | 0.080 | 5 | 135163402 | intron variant | C/A | snv | 0.63 | 0.820 | 1.000 | 6 | 2013 | 2019 | ||||
|
13 | 0.763 | 0.080 | 18 | 48924606 | intron variant | A/G | snv | 0.87 | 0.820 | 1.000 | 6 | 2014 | 2019 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.820 | 1.000 | 4 | 2005 | 2016 | ||||
|
10 | 0.776 | 0.080 | 12 | 50761880 | upstream gene variant | C/T | snv | 0.23 | 0.820 | 1.000 | 2 | 2010 | 2012 | ||||
|
10 | 0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 | 0.810 | 1.000 | 7 | 2014 | 2019 |