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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 17 | 74703694 | intron variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2009 | 2017 | |||||||
|
3 | 1 | 247442297 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
1 | 16 | 71998831 | intron variant | T/A;C | snv | 0.38 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.800 | 1.000 | 2 | 2011 | 2017 | ||||||
|
6 | 5 | 132335969 | synonymous variant | C/G | snv | 3.1E-02 | 2.8E-02 | 0.800 | 1.000 | 2 | 2009 | 2016 | |||||
|
3 | 2 | 241357034 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
1 | 2 | 102115231 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
1 | 3 | 123145924 | intron variant | G/T | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 7 | 36044919 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1 | 9 | 89604345 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 21 | 39093586 | regulatory region variant | G/T | snv | 0.22 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
1 | 2 | 241298487 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
4 | 4 | 3450618 | upstream gene variant | G/A | snv | 0.41 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 22 | 50663510 | intergenic variant | A/C | snv | 0.20 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
3 | 4 | 154567669 | synonymous variant | C/T | snv | 0.17 | 0.15 | 0.800 | 1.000 | 2 | 2009 | 2011 | |||||
|
2 | 8 | 9315848 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
3 | 17 | 42137346 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 8 | 143946999 | intron variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
1 | 22 | 50673933 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
3 | 10 | 63229171 | intron variant | A/T | snv | 0.47 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1 | 11 | 43484157 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1 | 21 | 39094542 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 4 | 154599476 | downstream gene variant | G/A | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 132445653 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 5 | 132408882 | upstream gene variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2009 | 2009 |