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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 | 0.020 | 0.500 | 2 | 2010 | 2017 | ||||
|
2 | 0.925 | 0.160 | 10 | 113080735 | intron variant | G/A | snv | 0.25 | 0.020 | < 0.001 | 2 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 102172509 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||
|
5 | 0.925 | 0.160 | 10 | 113029056 | intron variant | T/C | snv | 0.27 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.120 | 2 | 43334022 | intron variant | C/A | snv | 0.48 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 132477512 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 212529988 | intron variant | C/G | snv | 0.29 | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.120 | 11 | 114078510 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
47 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.020 | 0.500 | 2 | 2014 | 2014 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
4 | 0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.120 | 12 | 53423453 | upstream gene variant | A/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 88123239 | 3 prime UTR variant | G/A | snv | 0.17 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 0.882 | 0.120 | 19 | 7150407 | intron variant | C/G | snv | 0.75 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 48974473 | intron variant | C/T | snv | 0.53 | 0.810 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.120 | 12 | 65830681 | intron variant | A/C | snv | 2.1E-02 | 0.810 | 1.000 | 2 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 49020693 | intron variant | T/C | snv | 0.63 | 0.710 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 0.882 | 0.240 | 15 | 51237582 | intron variant | G/A | snv | 0.40 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
10 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 0.020 | 0.500 | 2 | 2010 | 2012 | ||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.200 | 2 | 240591757 | non coding transcript exon variant | G/A | snv | 0.23 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 6666809 | intron variant | G/A | snv | 0.12 | 0.020 | 1.000 | 2 | 2011 | 2013 |