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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.280 | 1 | 207454348 | 5 prime UTR variant | T/C | snv | 0.16 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.200 | 1 | 173266926 | regulatory region variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 1 | 22637618 | start lost | T/G | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
17 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.320 | 13 | 108285104 | intron variant | T/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.160 | 2 | 162297853 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.360 | 6 | 22303975 | intron variant | A/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.160 | 1 | 206771516 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 1 | 207454573 | intron variant | G/A | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.776 | 0.320 | 2 | 203745673 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.280 | 7 | 128948946 | 3 prime UTR variant | T/C | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 |