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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.800 | 0.800 | 10 | 1997 | 2004 | |||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.770 | 1.000 | 21 | 2007 | 2019 | ||||
|
25 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 0.750 | 1.000 | 12 | 2007 | 2019 | |||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.720 | 1.000 | 9 | 2008 | 2019 | ||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.720 | 1.000 | 6 | 2008 | 2019 | ||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.710 | 1.000 | 7 | 2008 | 2019 | ||||
|
16 | 0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 | 0.710 | 1.000 | 5 | 2008 | 2015 | ||||
|
15 | 0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 | 0.710 | 1.000 | 5 | 2008 | 2019 | ||||
|
13 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.710 | 1.000 | 4 | 2008 | 2019 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.710 | 1.000 | 4 | 2011 | 2016 | ||||
|
23 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 0.710 | 1.000 | 4 | 2008 | 2019 | ||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.710 | 1.000 | 2 | 2010 | 2017 | ||||
|
16 | 0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 | 0.710 | 1.000 | 2 | 2008 | 2013 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.710 | 1.000 | 1 | 2004 | 2004 | ||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.776 | 0.080 | 19 | 45818249 | intron variant | A/G | snv | 1.9E-02 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
11 | 0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 | 0.700 | 1.000 | 5 | 2014 | 2019 | ||||
|
11 | 0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 | 0.700 | 1.000 | 5 | 2010 | 2019 | ||||
|
13 | 0.763 | 0.080 | 18 | 48924606 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 5 | 2014 | 2019 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 4 | 2007 | 2018 | ||||
|
9 | 0.790 | 0.080 | 12 | 4259186 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
18 | 0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 4 | 2014 | 2019 | ||||
|
23 | 0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 | 0.700 | 1.000 | 4 | 2014 | 2019 |